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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.
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.
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.
Most often no particular treatment is requested. If some unusual complications happen (more pronounced pallor or fatigue,…), patients must consult specialist doctors.
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.
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