PH Screening

What does this mean to the baby and his/her parents?

When a baby is identified as a carrier of sickle cell disease it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensures there are no risks for future pregnancies.

When either parent has been confirmed as a carrier of sickle cell, information on their implications can be found in the following page:

https://www.gov.uk/government/publications/your-baby-carries-a-gene-for-sickle-cell/sickle-cell-and-thalassaemia-screening-your-baby-carries-a-gene-for-sickle-cell

Actions

Test baby’s parents, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care. 

• If only one parent is a carrier of sickle cell, the couple has a 1 in 2 chance (or 50%) to have children who are carriers.  
• If one parent is a carrier of sickle cell and the other is a carrier of any other haemoglobin variant, refer to Clinical Genetics for appropriate counselling on their reproduction options.

If the couple has other children, only test them if the parent is a carrier of any other haemoglobin variant. Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.

Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings) They can request a test called “Haemoglobinopathy screen” via their GP

Make sure the patient understands the rare health issues associated with being a carrier. They should therefore be advised to:

• Avoid situations where there may be a shortage of oxygen (deep-sea diving, unpressurized aircrafts, etc).
• Inform the anaesthetist if they are going to require an anaesthetic.
• Keep well hydrated.

Refer children and adults with haematuria.

Refer children and adults urgently if they present symptoms suggestive of renal medullary cancer. Symptoms include: haematuria, weight loss, loin pain, fever and abdominal pain.

Give the appropriate information leaflets (“Information for mums and dads: your baby carries a gene for sickle cell” and “You are a sickle cell disease”).

Make sure the patient has received his/her haemoglobinopathy card.

Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Community Genetic Counsellors on Tel: 0141 354 9201/ 0141 354 9229 (secretary)

Email: Community.Genetics@ggc.scot.nhs.uk

What does this mean to the baby and his/her parents?

When a baby is identified as a carrier of haemoglobin C it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensure there are no risks for future pregnancies.

When either parent has been confirmed as a carrier of haemoglobin C, information on their implications can be found in the following page:

https://www.gov.uk/government/publications/baby-carries-a-gene-for-unusual-haemoglobin-description-in-brief/newborn-screening-your-baby-carries-a-gene-for-haemoglobin-c

Actions

Test baby’s parents, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.

If only one parent is a carrier of haemoglobin C, the couple has a 1 in 2 chance (or 50%) to have children who are healthy carriers.

• If one parent is a carrier of haemoglobin C and the other is a carrier of Sickle Cell Disease (haemoglobin S), refer to Clinical Genetics for appropriate counselling on their reproduction options.
• If one parent is a carrier of haemoglobin C and the other is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.

If the couple has other children, only test them if the partner is a carrier of sickle cell disease. Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, postpone testing until the age of 16, to enable them to make their own informed decision.

Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings) They can request a test called “Haemoglobinopathy screen” via their GP.

Give an appropriate information leaflets. (“Information for mums and dads: your baby carries a gene for unusual haemoglobin” and “You are a carrier of haemoglobin C”).

Make sure the patient has received his/her haemoglobinopathy card.

Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Community Genetic Counsellors on Tele: 0141 354 9201 / 0141 354 9229 (secretary)

Email: Community.Genetics@ggc.scot.nhs.uk

What does this mean to the baby and his/her parents?

When a baby is identified as a carrier of haemoglobin E it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensures there are no risks for future pregnancies.

When either parent has been confirmed as a carrier of haemoglobin E, information on their implications can be found in the following page:

Newborn screening: Your baby carries a gene for Haemoglobin D – GOV.UK (www.gov.uk)

Actions

There are 7 different types of haemoglobin D. The only clinically relevant variant is haemoglobin D^Punjab.

Test partner, if not done previously (that includes haemoglobin screen, full blood count and ferritin levels).

• If partner is not a carrier of any haemoglobin variant, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
• If partner is a carrier of Sickle Cell disease (Haemoglobin S), refer to Clinical Genetics for appropriate counselling on their reproduction options.
• If the partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.

If the couple has children, only test them if the partner is a carrier of a haemoglobin variant. Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.

Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings).

Give the appropriate information leaflets.

Make sure the patient has received his/her Haemoglobinopathy card.

Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitat to contact:

Community Genetic Counsellors on Tele: 0141 354 9201 / 0141 354 9229 (secretary)

Email: Community.Genetics@ggc.scot.nhs.uk

What does this mean to the baby and his/her parents?

When a baby is identified as a carrier of haemoglobin E it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensures there are no risks for future pregnancies.

When either parent has been confirmed as a carrier of haemoglobin E, information on their implications can be found in the following page:

https://www.gov.uk/government/publications/baby-carries-a-gene-for-unusual-haemoglobin-description-in-brief/newborn-screening-your-baby-carries-a-gene-for-haemoglobin-e

Actions

If a carrier is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.

Test baby’s parents, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels) This can be done in primary care.

• If only one parent is a carrier of haemoglobin E, the couple have a 1 in chance (or 50%) to have children who are healthy carriers.
• If one parent is a carrier of haemoglobin E and the other is a carrier of Sickle Cell Disease (Haemoglobin S) or Beta Thalassaemia, refer to Clinical Genetics for appropriate counselling on their reproduction options.
• If one parent is a carrier of haemoglobin E and the other is a carrier of any other haemoglobin variant, reassure the couple as there is no other significant interaction with any other haemoglobin variant.

If the couple has other children, only test them if the partner is a carrier of beta thalassaemia or sickle cell disease. Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision

Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.

Give the appropriate information leaflets (“Information for mums and dads: your baby carries a gene for unusual haemoglobin” and “You are a carrier of haemoglobin E”).

Make sure the patient has received his/her haemoglobinopathy card.

Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

Community Genetic Counsellors on Telephone: 0141 354 9201 / 0141 354 9229 (secretary)

Email: Community.Genetics@ggc.scot.nhs.uk

What does this mean to the baby and his/her parents?

When a baby is identified as a carrier of haemoglobin Lepore it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensures there are no risks for future pregnancies.

When either parent has been confirmed as a carrier of haemoglobin Lepore, information on their implications can be found in the following page:

https://www.gov.uk/government/publications/haemoglobin-lepore-carrier-description-in-brief

Actions

If a carrier is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.

Test the baby’s parents, if not done previously (that includes haemoglobinopathy screen, full blood count and ferritin levels). This can be done in primary care.

• If only one parent is a carrier of haemoglobin Lepore, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
• If one parent is a carrier of haemoglobin Lepore and the other is a carrier of Beta Thalassaemia or Sickle Cell Disease (Haemoglobin S), refer to Clinical Genetics for appropriate counselling on their reproduction options.
• If one parent is a carrier of haemoglobin Lepore and the other is a carrier of any other haemoglobin variant, reassure the couple as there is no significant interaction with any other haemoglobin variant.

If the couple has other children, only test them if the partner is a carrier of beta thalassaemia or sickle cell disease (haemoglobin S). Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.

Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “Haemoglobinopathy screen” via their GP.

Give the appropriate information leaflets (“Information for mums and dads: your baby carried a gene of unusual haemoglobin” and “You are a carrier of haemoglobin Lepore”).

Make sure the patient has receive his/her haemoglobinopathy card.

Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

Community Genetic Counsellors on Telephone: 0141 354 9201 / 0141 354 9229 (secretary)

Email: Community.Genetics@ggc.scot.nhs.uk

What does this mean to the baby and his/her parents?

When a baby is identified as a carrier of haemoglobin OArab  it is important to test the parents, if not done before. This way it can be confirmed from which parent this has been inherited and, at the same time, it ensures there are no risks for future pregnancies.

When either parent has been confirmed as a carrier of haemoglobin O^Arab, information on their implications can be found in the following page:

https://www.gov.uk/government/publications/baby-carries-a-gene-for-unusual-haemoglobin-description-in-brief/newborn-screening-your-baby-carries-a-gene-for-haemoglobin-o-arab

Actions

If a carrier is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.

Test the baby’s parents, if not done previously (that includes: haemoglovinopathy screen, full blood count and ferritin levels). This can be done in primary care.

• If only one parent is a carrier of O^Arab, the couple have a 1 in 2 chance (or 50%) to have children who are healthy cariers.
• If one parent is a carrier of O^Arab  and the other is a carrier of Beta Thalassaemia or Sickle Cell Disease (Haemoglobin S), refer to Clinical Genetics for appropriate counselling on their reproduction options.
• If one parent is a carrier of O^Arab and the other is a carrier of any other haemoglobin variant, reassure the couple as there is no other significant interaction with any other haemoglobin variant. 

If the couple has other children, only test them if one parent is a carrier of O^Arab and the other is a carrier of beta thalassaemia or sickle cell disease (haemoglobin S). Otherwise, there is no need to test them unless they are present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.

Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “Haemoglobinopathy screen” via their GP.

Give the appropriate information leaflets (“Information for mums and dads: your baby carries a gene for unusual haemoglobin” and “You are a carrier of haemoglobin O^Arab).

Make sure the patient has received his/her haemoglobinopathy card.

Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Community Genetic Counsellors on Telephone: 0141 354 9201 / 0141 354 9229 (secretary)

Email: Community.Genetics@ggc.scot.nhs.uk

• Sickle Cell carrier
• Sickle Cell – easy read
• Sickle Cell – Arabic
• Sickle Cell – Chinese 

What does this mean to the patient?

When a patient is identified as a carrier of haemoglobin C, information on their implications can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis.   Information for fathers on haemologlobin C carrier screening, can be downloaded or ordered via PHRD. 

Actions

• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of Sickle Cell Disease (haemoglobin S), refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of sickle cell disease. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of haemoglobin C”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of haemoglobin D, information on their implications can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. Information for fathers on haemoglobin D carrier screening, can be downloaded or ordered via PHRD. 

Actions

• There are 7 different types of haemoglobin D. The only clinically relevant variant is haemoglobin D^Punjab.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of Sickle Cell Disease (haemoglobin S), refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of sickle cell disease. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of haemoglobin C”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of haemoglobin E, information on their implications can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. Information for fathers on haemologlobin E carrier screening, can be downloaded or ordered via PHRD. 

Actions

If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.

• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of Sickle Cell Disease (haemoglobin S) or Beta Thalassaemia, refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of beta thalassaemia or sickle cell disease. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of haemoglobin E”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of haemoglobin Lepore, information on their implications can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. 

Information for fathers on haemoglobin Lepore screening, can be downloaded or ordered via PHRD. 

Actions

• If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of Beta Thalassaemia or Sickle Cell Disease (Haemoglobin S), refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing,
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of beta thalassaemia or sickle cell disease. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of haemoglobin E”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of haemoglobin O^Arab, information on their implications can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. Information for fathers on haemologlobin O^Arab carrier screening, can be downloaded or ordered via PHRD. 

Actions

• If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of Beta Thalassaemia or Sickle Cell Disease (Haemoglobin S), refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of beta thalassaemia or sickle cell disease. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of haemoglobin O^Arab ”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of beta thalassaemia, information on their implications can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. Information for fathers on Beta Thalassaemia carrier screening, can be downloaded or ordered via PHRD. 

Actions

• If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If the partner is a carrier of Beta Thalassaemia, Sickle Cell Disease (Haemoglobin S), Haemoglobin E, Haemoglobin Lepore, Haemoglobin O^Arab or Delta-Beta Thalassaemia, refer urgently to Clinical Genetics for appropriate counselling on their reproduction options.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of a haemoglobin variant. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of beta thalassaemia”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

A haemoglobinopathy screen cannot differentiate between alpha thalassaemia carriers and iron deficiency. For this reason, it is important to interpret the patient’s results in combination with ferritin levels.

What does this mean to the patient?

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis.

Actions

• If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of alpha plus or alpha zerothalassaemia, refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of alpha zero thalassaemia. Children diagnosed with Haemoglobin H disease should be referred to Haematology. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of Alpha zero Thalassaemia”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

A haemoglobinopathy screen cannot differentiate between alpha thalassaemia carriers and iron deficiency. For this reason, it is important to interpret the patient’s results in combination with ferritin levels.

What does this mean to the patient?

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis.

Actions

• If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of alpha plus or alpha zerothalassaemia, refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple.
• If the couple has other children, only test them if the partner is a carrier of alpha zero thalassaemia. Children diagnosed with Haemoglobin H disease should be referred to Haematology. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of Alpha zero Thalassaemia”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

• Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of delta beta thalassaemia, information can be found in the following leaflet and ordered via PHRD.

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. Information for fathers on delta beta thalassaemia carrier screening, can be downloaded or ordered via PHRD. 

Actions

• If patient is found to have reduced MCV and MCH indices, iron supplementation is not required unless the patient’s ferritin levels are reduced.
• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variants, the couple have a 1 in 2 chance (or 50%) to have children who are healthy carriers.
  • If partner is a carrier of Beta Thalassaemia or Sickle Cell Disease (Haemoglobin S), refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
  • If partner is a carrier of any other haemoglobin variant, reassure the couple as there is no other relevant interaction with any other haemoglobin variant.
• If the couple has other children, only test them if the partner is a carrier of a haemoglobin variant. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Give the appropriate information leaflets. (“You are a carrier of delta beta thalassaemia”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

What does this mean to the patient?

When a patient is identified as a carrier of sickle cell, information on their implications can be found in the following leaflet:

• Sickle cell carrier: description in brief – GOV.UK (www.gov.uk)

It is important to offer testing to the partner to make sure there is no risk to have a baby with a haemoglobin disorder. Ideally, results from both parents’ results should be available before week 12 of pregnancy to enable decisions regarding prenatal diagnosis. 

Actions

• Test partner, if not done previously (that includes: haemoglobin screen, full blood count and ferritin levels). This can be done in primary care.
  • If partner is not a carrier of any haemoglobin variant, the couple has a 1 in 2 chance (or 50%) to have children who are carriers.
  • If partner is a carrier of any haemoglobin variant, refer urgently to Clinical Genetics for appropriate counselling and to discuss further testing.
• If the couple has other children, only test them if the partner is a carrier of a haemoglobin variant. Otherwise, there is no need to test them unless they present with health problems. It is normally recommended to postpone testing until the age of 16, to enable them to make their own informed decision.
• Stress that other family members can be carriers, so it is advisable to circulate the information to first-degree relatives (parents and siblings). They can request a test called “haemoglobinopathy screen” via their GP.
• Make sure the patient understands the rare health issues associated with being a carrier. They should therefore be advised to:
• Avoid situations where there may be a shortage of oxygen (deep-sea diving, unpressurized aircrafts, etc).
• Inform the anaesthetist if they are going to require an anaesthetic.
• Keep well hydrated.
• Refer children and adults with haematuria.
• Refer children and adults urgently if they present with symptoms suggestive of renal medullary cancer. Symptoms include: haematuria, weight loss, loin pain, fever and abdominal pain.
• Give the appropriate information leaflets. (“You are a carrier of sickle cell.”)
• Make sure the patient had received his/her haemoglobinopathy card.
• Explain that it is still important to have malaria prophylaxis if visiting an area where malaria is endemic.

More Information

If you would like more information about haemoglobinopathies and testing, please do not hesitate to contact:

Telephone: 0141 354 9201 (receptionist)/0141 354 9229 (secretary)

Email:  geneticsreferrals@ggc.scot.nhs.uk

• Haemoglobin C carrier
• Haemoglobin D carrier
• Haemoglobin E carrier
• Haemoglobin Lepore carrier
• Haemoglobin OArab carrier
• Beta thalassaemia carrier
• Delta beta thalassaemia carrier
• You are a Beta thalassaemia carrier – easy read 
• Beta thalassaemia leaflet 
• Beta thalassaemia – Arabic 
• Beta thalassaemia – Chinese 
• Beta thalassaemia – Urdu
• UK Thalassaemia Society
• Sickle Cell Society
• Screening for sickle cell and thalassaemia ( NHS UK)
• Understanding haemoglobinopathies Guidance ( GOV.UK)

Haemoglobin is a protein that is carried by red blood cells. Its main function is to pick up oxygen in the lungs and deliver it to the peripheral tissues to maintain the viability of cells. Haemoglobin is made from two similar proteins, usually referred to as subunits, which “stick together”. Both subunits must be present for the haemoglobin to function normally. One of the subunits is called alpha, and the other is beta. Inside each subunit, there is a small iron-containing molecule called heme, to which oxygen is bound. Before birth, the beta protein is not expressed. Instead, a chain called gamma is produced.

Like all proteins, the “instructions” to synthesise haemoglobin are found in DNA (the material that makes up genes). Normally, an individual has four genes that code for the alpha protein, or alpha chain. Two other genes code for the beta chain. The alpha chain and the beta chain are made in precisely equal amounts, despite the differing number of genes. The protein chains join in developing red blood cells, and remain together for the life of the red cell.

The composition of haemoglobin is the same in all people. The genes that code for haemoglobin are identical throughout the world. Occasionally, however, one of the genes has a change or variant. Although the changes that produce abnormal haemoglobins are rare, several hundred haemoglobins variants exist. Most variant haemoglobins function normally, and are only found through specialized research techniques. Some haemoglobin variants, however, do not function normally and can produce clinical disorders, such as sickle cell disease.

Usual types of haemoglobin

Haemoglobin A: This is the designation for the most common haemoglobin variant that exists after birth. Haemoglobin A is a tetramer with two alpha chains and two beta chains (a₂b₂).

Haemoglobin A2: This is a minor component of haemoglobin found in red cells and consists of two alpha chains and two delta chains (a₂d₂). Haemoglobin A2 generally comprises less that 3% of the total red cell haemoglobin.

Haemoglobin F: Haemoglobin F is the predominant haemoglobin during foetal development. The molecule is a tetramer of two alpha chains and two gamma chains (a₂g₂).

Clinically significant haemoglobin variants

Haemoglobin S: This is the predominant variant in people with sickle cell disease. The disease-causing gene change is found in the beta chain. The highest frequency of sickle cell disease is found in tropical regions, particularly sub-Saharan Africa, tribal regions of India and the Middle-East. The carrier frequency ranges between 10% and 25% across equatorial Africa.

Haemoglobin C: Haemoglobin C results from a gene change in beta globin. It can cause sickle cell disease when it is inherited with haemoglobin S. It can also cause haemoglobin C disease when two haemoglobin C variants are inherited. Haemoglobin C is most prevalent in Western Africa, especially in Nigeria and Benin.

Haemoglobin E: This variant results from a gene change in the haemoglobin beta chain. It can cause thalassaemia major or intermedia hen coinherited with beta thalassaemia. Haemoglobin E is extremely common in Southeastern Asia (Thailand, Myanmar, Cambodia, Laos, Vietnam, and India) where its prevalence can reach 30-40%.

Haemoglobin D: There are different types of haemoglobin D variants, but the most vlinically significant is haemoglobin D^Punjab (also called D^{Los Angeles}). It results from a gene change in the beta globin chain. It can cause sickle cell disease if coinherited with haemoglobin S. As the name indicated, it is most frequent in the Punjab Area (Northwestern India), where the carrier frequency can be around 2%.

Haemoglobin O^Arab: This variant results from a gene change in the beta globin chain. It can cause sickle cell disease when it is inherited with haemoglobin S. It is more frequent in North Africa, Middle East and Eastern Europe.

Haemoglobin Lepore: Haemoglobin Lepore is an unusual variant that is th product of the fusion of the beta and delta globin genes. It can cause thalassaemia major/intermedia when a person inherits two copies of haemoglobin Lepore, or when it is inherited with beta thalassaemia. It can also cause sickle cell disease when inherited with haemoglobin S. It occurs most frequently in patients originating from the Mediterranean region.

Sickle cell disease is the name for a group of inherited conditions that affect the red blood cells. The most serious type is called sickle cell anaemia. Sickle cell disease mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin. In the UK, it’s particularly common in people with an African or Caribbean family background. People with sickle cell disease produce unusually shaped red blood cells that can cause problem because they don’t live as long as healthy blood cells and they can become stuck in blood vessels. Sickle cell disease is a serious and lifelong condition, although long-term treatment can help manage many of the problems associated with it.

Sickle Cell Anaemia (HbSS)

Sickle cell disease is an inherited blood condition. Babies with sickle cell disease are usually well at birth but may start to develop symptoms from around 4 months of age. The symptoms of SCD are:

• Chronic anaemia: long term decreased number of red blood cells and/or the amount of haemoglobin they carry.
• Infections: people with SCD, especially infants and children, are more likely to experience infections such a flu, meningitis, and hepatitis.
• Sudden pain crisis: this happens when the sickle blood cells obstruct a blood vessel. This can be triggered by different situations, such as intense exercise, stress, infections, sudden temperature changes and not drinking enough water.
• Hand-Foot Syndrome: swelling in the hands and feet, often along with a fever, is caused by the sickle cells getting stuck in the blood vessels and blocking the blood from flowing freely through the hands and feet.
• Acute Chest Syndrome (ACS): blockage of the flow of blood to the lungs can cause acute chest syndrome. ACS is similar to pneumonia; symptoms include chest pain, coughing, difficult breathing, and fever.

Because of the sickling, the patients suffer a chronic haemolytic anaemia and the usual 120 half life of erythrocytes falls to 20 days for patients with sickle disease. The chronic haemolysis results in a rapid production of erythrocytes and a FBC that contains reticulocytes, occasional nucleated erythrocytes, target cells and sickle cells. As the spleen becomes compromised with repeated infarctions, Howell-Jolly bodies are also seen.

Several factors can lead to crises in sickle cell disease: hypoxia, dehydration, vascular stasis, fever, cold and acidosis. Anything that leads to hypoxia will promote sickling. Therefore, patients with respiratory compromise due to infection or chronic respiratory diseases are prone to develop sickle crisis.

There is no single best treatment for all people with SCD. Treatment options are different for each person depending on the symptoms. Treatments can include receiving blood transfusions, maintaining a high fluid intake (drinking 8 to 10 glasses of water each day), receiving intravenous therapy (fluids given into a vein) and medications to help with pain. Nowadays, with the proper treatment, most people affected with SCD live normal long lives.

Other types of sickle cell disease

The different forms of sickle cell disease are:

Severe sickle cell disease: symptoms and management similar to that in sickle cell anaemia.

• HbS/ß thalassaemia
• HbS/O^ArabModerate sickle cell disease:

• HbS/C
• HbS/D^Punjab
• HbS/LeporeMild sickle cell disease: clinically non relevant

• HbS/E
• Hbs/HPFH

Beta Thalassaemia is generally caused by point mutations or chromosome 11, following a recessive inheritance pattern (meaning that a mutation in each allele is needed to develop the disease). The symptoms of beta thalassaemia differ greatly from one patient to another, depending mostly on the severity of the mutation. Beta thalassaemia includes:

• Thalassaemia minor: this usually occurs in patients who are heterozygous for one beta thalassaemia mutation (beta thalassamia carriers or bête thalassaemia trait). Individuals will suffer from mild microcytic hypochromic anaemia, whih is usually asymptomatic and it is not expected to cause any health issue.
• Thalassaemia intermedia: Patients with symptoms that range from those observed in thalassaemia minor and those in thalassaemia major. Patient’s require frequent medical check ups and usually require sporadic blood transfusions.
• Thalassaemia major: also called Mediterranean anemia or Cooley anemia. It is caused by severe mutations in both alleles. No functional ß chains are produced, and thus no haemoglobin A can be assembled. This is he most severe form of ß-thalassemia: those with thalassaemia major need to have regular blood transfusions from infancy onwards in order to survive. Long term transfusions can lead to iron overload, so this patients also need iron chelating therapy.

Alpha globin is made by four genes, two on each strand of chromosome 16. Alpha thalassaemia usually occurs by deletion of some of these four genes. Depending on the total number of alpha genes that a patient has, there are different outcomes:

Alpha globin genes:

4 alpha globin genes: most common scenario, person is not a carrier.

3 alpha globin genes: silent alpha thalassaemia carrier. There is overlap between the red blood cell indices of these individuals and those with 4 gene copies, although the MCV may be slightly lower.

2 alpha globin genes: alpha thalassaemia carrier (also called alpha thalassaemia trait). Individuals who have alpha thalassaemia trait are identified by microcytosis, erythrocytosis, hypochromia and mild anaemia. Individuals with a thalassaemia trait will experience no significant health problems except a possible slight anaemia which cannot be treated with iron, with consequent mild fatigue symptoms.

• When the two copies are in different alleles (also called in trans), the person is an alpha + carrier. It is most commonly detected in people with African ancestry.
• When the two copies are in the same allele (also called in cis), the person is alpha 0 carrier. It is most commonly detected in people with Southeast Asian ancestry.

1 alpha globin gene: the person will be affected with haemoglobin H disease. Haemoglobin H disease is characterized by mild to moderate anaemia, hypochromia and microcytosis. Individuals who have haemoglobin H disease generally have a persistent stable state of anemia, which may be accentuated by increased haemolysis during viral infections and by exposure to oxidant medications, chemicals and foods such as sulfa drugs, benzene, and fava beans (similar to individuals who have G6PD deficiency).

As the red cells mature they lose their ability to withstand oxidant stress and haemoglobin H precipitates, leading to haemolysis. Therapy for individuals who have haemoglobin H disease includes folate, avoidance of oxidant drugs and foods and frequent medical check ups.

No alpha globin genes: the absence of alfa chains causes severe anaemia and leads to hydrops foetalis. This diagnosis is frequently made in the last months of pregnancy when fetal ultrasound indicates a hydropic fetus. The mother frequently exhibits toxemia and can develop severe postpartum hemorrhage. These infants are usually stillborn. There can be other congenital anomalies, though none are pathognomonic for alpha thalassaemia major. If the diagnosis is made early, intrauterine transfusions can be performed.

More uncommonly, alpha thalassaemia can also be caused by point mutations in any of the four alfa globin genes. Some examples of these haemoglobin variants are: Constant-Spring, Icaria, Seal Rock, Pakse, Quong Sze, Sun-Praire and Adana.

Information Leaflets

• Sickle Cell carrier information leaflet: Sickle cell carrier: description in brief – GOV.UK (www.gov.uk)       
• Haemoglobin E carrier information leaflet: Haemoglobin E carrier: description in brief – GOV.UK (www.gov.uk)
• Haemoglobin Lepore carrier information leaflet: Your antenatal blood test result: you are a haemoglobin Lepore carrier – GOV.UK (www.gov.uk)
• Haemoglobin C carrier information leaflet: Newborn screening: Your baby carries a gene for Haemoglobin C – GOV.UK (www.gov.uk)
• Haemoglobin O^arab information leaflet: Haemoglobin O Arab carrier: description in brief – GOV.UK (www.gov.uk)
• Haemoglobin D carrier information leaflet: Newborn screening: Your baby carries a gene for Haemoglobin D – GOV.UK (www.gov.uk)
• Delta Beta Thalassaemia information leaflet: Delta beta thalassaemia carrier: description in brief – GOV.UK (www.gov.uk)

Patient associations and information sources

• Sickle Cell Society
• UK Thalassaemia Society
• Scottish Paedriatic & Adult Haemoglobinopathy Managed Clinical Network (www.spah.scot.nhs.uk): offers useful information sources and support groups for parents and patients.
• NHS Choice (http://www.nhs.uk/Conditions/Sickle-cell-anaemia/Pages/Introduction.aspx)

• NICE – Clinical Knowledge Summaries (http://cks.nice.org.uk/sickle-cell-disease#!topicsummary): this website offers some information on sickle cell disease, diagnosis and, more importantly, the clinical management of both affected patients and carriers.
• NHS Sickle Cell and Thalassaemia e-learning New sickle cell and thalassaemia screening e-learning resource – PHE Screening (blog.gov.uk): education and training to support the NHS Screening Programme for Sickle Cell and Thalassaemia.
• Sickle Cell and Thalassaemia Handbook for Laboratories 
• Haemoglobinopathy network for children and adults in Scotland

This is aimed at those who have previously complete the core Cervical Skills Training. Update training is required to be completed every 3 years. Smear takers will update knowledge and skills; increase awareness of current practice; and address unsatisfactory smears.