A Case of Dominantly Inherited beta Thalassemia Due to Hb Dieppe

ABSTRACT

beta thalassemias are usually transmitted as autosomal recessive traits. However, some dominant forms of beta thalassemia have been identified in individuals who have inherited a single copy of an abnormal beta globin gene. Thalassemia intermedia with mild anemia, jaundice, and splenomegaly has been observed in these patients. Electrophoresis has shown elevated Hemoglobin(Hb) A2 and Hb F levels. In particular, there are inclusion bodies in the erythroid precursors and peripheral red blood cells after splenectomy. The molecular basis of these dominant beta thalassemias is heterogeneous. The authors studied the first Korean case of dominantly inherited beta thalassemia due to Hb Dieppe. Hb Dieppe is a missense mutation of beta codon 127(CAG->CGG)Gln->Arg. The patient in this case was characterized by moderate anemia, hypochromia, microcytosis, elevated Hb A2 levels, elevated Hb F levels and splenomegaly. The father of the patient also has the same disease. We report this case and review related literature.