Haemoglobin H disease

ORPHANET code:

846

OMIM code:

141800, 604131

ICD-10 code:

D56.0

Group:

Thalassaemias

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.