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Newborn Screening Results: Haemoglobin Lepore Carrier

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

Information on the implications for the newly diagnosed can be found in the follow leaflet and ordered via PHRD:

Sickle Cell and Thalassemia 2.png

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 leaflet and ordered via PHRD:

Haemoglobin Lepore Carrier.png

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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 Tele: 0141 354 9201 / 0141 354 9229 (secretary)

Email: [email protected]