Sickle Cell Carrier (HbAS)
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:
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)
Haemoglobin C Carrier (HbAC)
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:
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)
Haemoglobin D Carrier (HbAD)
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)
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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).
- 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)
Haemoglobin E Carrier (HbAE)
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:
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)
Haemoglobin Lepore Carrier
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)
Haemoglobin OArab Carrier
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 OArab, information on their implications can be found in the following page:
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 OArab, the couple have a 1 in 2 chance (or 50%) to have children who are healthy cariers.
- If one parent is a carrier of OArab 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 OArab 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 OArab 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 OArab).
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)