Alpha-thalassemia-myelodysplastic syndrome

This form of alpha thalassemia is characterized by an association with the myelodysplastic syndrome (MDS) and the hemoglobin H disease. The main symptom is an anemia and the symptoms associated with it.

Rarely, myelodysplastic syndrome is a myeloproliferative disorder. If this is the case, splenomegaly is common. In a quarter of all patients, the syndrome advances in leukemia. 

The cause of the disease are acquired somatic mutations on the ATRX gene (genelocus Xq21.1). Men are significantly more affected than women with the ratio 6:1.