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.
Harris
J W
JW
Department of Medicine, Case Western Reserve University, School of Medicine, MetroHealth Medical Center, Cleveland, Ohio 44109-1998.
Danish
E H
EH
Brittenham
G M
GM
McLaren
C E
CE
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