Genetic diseases of the blood

Genetic diseases of the blood include congenital anemias, disorders of blood cells as well as abnormal blood clotting.

Congenital anemias are for example

• Hemoglobinopathies (thalassemias, sickle cell disease).
• Sideroblastic anemia
• Hemolytic anemias (red cell membrane disorders)
• Diamond-Blackfan anemia

Neutropenias and thrombocytopenias may also be hereditary. These include, for example:

• TAR syndrome (thrombocytopenia with absent radius)
• Congenital thrombocytopenia
• Familial platelet disorder with associated myeloid malignancy
• Congenital neutropenia
• Shwachman-Diamond syndrome

Furthermore, there are syndromes associated with an increased risk of leukemia or myelodysplastic neoplasia (e.g. Fanconi anemia or trisomy 21) or increased risk of bleeding (von Willebrand disease).