[An erythremia with acquired HbH disease and chromosomal abnormality]

A 56-year-old male was admitted to the Nihon University Hospital because of general fatigue and anemia on September 21st, 1985. He had mild hepato-splenomegaly. Hematological findings showed RBC 286 x 10(4)/microliters, Hb 6.0/dl, reticulocyte count 2.5%, platelet count 9.3 x 10(4)/microliters and WBC 2,400/microliters. An erythroblast per 100 leukocytes counted in a blood film was found. Bone marrow was erythroid hyperplasia with megaloblasts. The erythroblasts were PAS positive but not ringed sideroblasts. Other laboratory data including hemolysis were all negative. This case seemed to be diagnosed as refractory anemia (RA) according to the FAB classification. Chromosomal analysis of marrow cells, however, all revealed 46, XY, 20q- at diagnosis and 46, XY, 7q- 20q- after 22 months. Furthermore, Hb electrophoresis ahd family study indicated the presence of acquired HbH disease. Neither erythroid bursts (BFU-e) nor late erythroid progenitors (CFU-e) were detected. He has had progressive anemia without proliferation of blasts for over 2 years. From these findings, we postulate that the entity of erythremia should be distinguished from RA including many heterogeneous diseases.