title: Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II.
abstract: Red cell membrane proteins were investigated in two unrelated children with congenital dyserythropoietic anemia (CDA) I and two siblings with CDA II. The CDA I patients displayed globin chain synthesis imbalance, with reduction of the non alpha/alpha ratio. One of the CDA II patients presented the reverse alteration. Whenever globin chain synthesis was unbalanced, the membrane p-nitrophenylphosphatase had an abnormally biphasic kinetics, consistent with substrate excess inhibition, as is observed in alpha- or beta-thalassemic syndromes. One CDA I patient displayed a decrease of electrophoretic band 4.1 along with an ectopic phosphorylated protein at the level of band 4.2. In CDA II and, to a lesser extent, in CDA I, the in vitro endogenous phosphorylation of band 2 + 2.1 was sharply reduced.
mesh_terms: D009597:4-Nitrophenylphosphatase / Q000097:blood; D000293:Adolescent; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood* / Q000235:genetics; D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D002675:Child, Preschool; D004591:Electrophoresis, Polyacrylamide Gel; D004910:Erythrocyte Membrane / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism; D005914:Globins / Q000378:metabolism*; D006443:Hemoglobin A2 / Q000378:metabolism; D006451:Hemoglobin, Sickle / Q000378:metabolism; D006801:Humans; D007700:Kinetics; D008297:Male; D013789:Thalassemia / Q000097:blood
chemical_list: D006451:Hemoglobin, Sickle; D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin; D009597:4-Nitrophenylphosphatase