Unstable haemoglobin

ICD-10 code:

D58.2

Group:

Structural haemoglobinopathies

Subgroup:

Other haemoglobin variants

Unstable Haemoglobin 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 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 color 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 unusual 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 (Unstable Hb), there is a 50 percent risk of having a child affected by the disorder (Unstable Hb) 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.