Unstable haemoglobin

ENERCA  >  Anaemia   >  Unstable haemoglobin

Unstable haemoglobin

ORPHANET code: 99139
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.
No Comments

Sorry, the comment form is closed at this time.