Pyridoxine responsive hereditary sideroblastic erythropoiesis and iron overload: two microcytic subpopulations in the affected male, one normocytic and one microcytic subpopulation in the obligate female carrier.
Mild hepatic iron overload has been demonstrated by magnetic susceptibility measurements in a 22-year-old man with hereditary sideroblastic erythropoiesis despite hemoglobin levels in the normal range and a normal erythropoietin level. His grandfather's sideroblastic anemia has been found to be responsive to pyridoxine; his mother's hemoglobin has persisted in the normal range but red cell volume distribution analysis demonstrated two subpopulations; 30% with estimated geometric mean of 68 fl and 70% an estimated mean of 93 fl. Red cell distribution analysis of the grandson demonstrated two microcytic subpopulations; 46% with an estimated geometric mean of 45 fl and 54% an estimated mean of 70 fl. A therapeutic regimen is outlined to reduce to normal his iron stores and to prevent the future development of excessive iron overload.
Department of Medicine, Case Western Reserve University, School of Medicine, MetroHealth Medical Center, Cleveland, Ohio 44109-1998.
J W
JW
Harris
E H
EH
Danish
G M
GM
Brittenham
C E
CE
McLaren
D000293:Adolescent; D000328:Adult; D000756:Anemia, Sideroblastic / Q000097:blood* / Q000188:drug therapy* / Q000235:genetics; D004912:Erythrocytes / Q000473:pathology*; D004920:Erythropoiesis / Q000187:drug effects*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D011736:Pyridoxine / Q000627:therapeutic use*; D012016:Reference Values
D007501:Iron; D011736:Pyridoxine