Thalassemia

Thalassemia is a genetic blood disorder that decreases the development of  haemoglobin It leads to a lack of red blood cells and low oxygen levels. this induces a loss of  red blood cells and low blood oxygen levels, leading to a variety of health issues.  Thalassemia, alpha-thalassemia and beta-thalassemia are two main types. Symptoms and signs may vary but may include mild anaemia, malignancy, tiredness, yellow skin discolouration (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the genes HBA1 and HBA2. Both are inherited in an autosomal receive manner. Treatment depends on the type and severity of the condition but may include blood transfusions and or supplements of folic acid.

 

  • Genetic mutations
  • Splenomegaly
  • Cooleys anemia
  • Hepatomegaly

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