Haemoglobin M with anaemia
ORPHANET code: 330041
ICD-10 code: D74.0
Group: Structural haemoglobinopathies
Subgroup: Other haemoglobin variants
Haemoglobin M with anaemia is a disorder of haemoglobin, a major component of the red blood cells. This abnormal haemoglobin is unstable and the red blood cell lifespan is reduced; it gives cyanosis (blue color) and anaemia. It is a benign disease.
- What causes the disease and how common is it?
This is a genetic disease. It is linked to a mutation of the Β-globin gene, encoding the ß-globin chain, one of the components of haemoglobin (Hb). Individuals are heterozygous for the disorder (only one of the globin genes is mutated).
It is a rare disorder with a worldwide distribution.
- What are the most frequent symptoms if I have the disease?
Most people with haemoglobin M have cyanosis (blue colour of lips and nails bed of the fingers) and some have also anaemia, but a normal life expectancy. In adulthood they might present enlargement of the spleen and gallstones.
- Which treatment must I follow if I have the disease?
Most often no particular treatment is requested. If some complications happen, patients must consult specialist doctors.
- What is the risk of passing the condition on to my children?
If one member of a couple has the mutated gene (Hb M), there is a 50 percent risk of having a child affected by the disorder (Hb M) at each pregnancy. The risk of having a child who has not the disorder is also 50 percent at each pregnancy. Ask for genetic counselling to get a complete explanation.
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