A New Hemoglobin-Variant Discovered In A 6-Year-Old Boy With Transient Aplastic-Anemia

Severe aplastic anemia was diagnosed in a 6-year-old Turkish boy who presented with refractory otitis media and subsequently developed systemic candida infection. Hepatosplenomegaly and gall bladder sludge were seen by ultrasound examination, without laboratory signs of hemolysis. His hemoglobin was shown to have an abnormal electrophorectic mobility caused by an exchange of aspartic acid for histidine 21 of the hemoglobin beta chain. This new hemoglobin variant (Hb Berlin) was also found in his only brother and three female relatives.The boy recovered promptly after high-dose steroid therapy; granulocytes and reticulocytes that initially were absent were first detected 2 weeks after initiation of methylprednisone. He is in complete remission now for 16 months.