ORPHANET code: 846
OMIM code: 141800, 604131
ICD-10 code: D56.3
Subgroup: Alpha thalassaemia
Alpha-thalassaemia – trait or carrier is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. It is a benign disease. It should be distinguished from an iron deficiency.
- What causes the disease and how common is it?
This is a genetic disease. It is linked to a decreased expression of one or two of the four α-globin genes, encoding the α-globin chains, one of the components of haemoglobin (Hb). It is a frequent disorder in people originating from West- and North-Africa, Middle-East, India, Asia and the Mediterranean Basin. This is due to the fact that these areas were or are still infected with malaria and α-thalassaemia confers a relative protection against malaria.
- What are the most frequent symptoms if I have the disease?
Most people with α-thalassaemia trait also called carriers, have no symptoms and a normal life expectancy. At the examination of their blood, one can see that the red blood cells are smaller and paler. It should be distinguished from an iron deficiency.
- Which treatment must I follow if I have the disease?
No particular treatment is requested.
- What is the risk of passing the condition on to my children?
If each member of a couple has the anomaly (α-thalassaemia trait), the risk of having a child affected (α-thalassaemia trait) or affected by a more severe disorder (see “Haemoglobin H disease”) at each pregnancy is very complex. Ask for genetic counselling to get a complete explanation.