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Pregnancy Screening Results

Haemoglobin C carrier

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:

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

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

Haemoglobin D carrier

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 DPunjab.
  • 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:

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

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

Haemoglobin E carrier

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:

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

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

Haemoglobin Lepore carrier

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 haemologlobin Lepore 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 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:

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

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

Haemoglobin OArab carrier

What does this mean to the patient?

When a patient is identified as a carrier of haemoglobin OArab, 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 OArab 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 OArab ”)
  • 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:

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

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

Beta Thalassaemia carrier

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 OArab 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:

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

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

Alpha Plus Thalassaemia carrier

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:

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

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

Alpha Zero Thalassaemia carrier

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:

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

Delta Beta Thalassaemia carrier

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:

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

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

Sickle Cell Carrier

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:

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:

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

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

Pregnancy Screening Results – Further Information and Resources