OMIM code: 141800, 604131
ICD-10 code: D56.0
Subgroup: Alpha thalassaemia
Haemoglobin H disease is a disorder of haemoglobin, a major component of the red blood cells. Haemoglobin is produced at a reduced rate. It is a relatively benign disease.
- What causes the disease and how common is it?
This is a genetic disease. It is linked to a decreased expression of three 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 Asia.
- What are the most frequent symptoms if I have the disease?
Most people with haemoglobin H disease have anaemia (palor) and a normal life expectancy, in some rare cases a severe anaemia is present. In adulthood they might present enlargement of the spleen and gallstones. Pregnancy should be followed carefully.
- Which treatment must I follow if I have the disease?
Most often no particular treatment is requested. If some unusual complications happen (more pronounced pallor or fatigue,…), patients must consult specialist doctors.
- What is the risk of passing the condition on to my children?
If each member of a couple has the anomaly or is carrier of the anomaly (α-thalassaemia trait), the risk of having a child affected at each pregnancy is very complex. Ask for genetic counselling to get a complete explanation.