Alterations of Globin Chain Synthesis and of Red Cell Membrane Proteins in Congenital Dyserythropoietic Anemia I and II
| Autor: | Jean Delaunay, L Morle, Evelyne Dorléac, Paul A Bryon, Genevieve Margueritte, Paule Jaccoud, Nicole Alloisio, N Philippe |
|---|---|
| Rok vydání: | 1982 |
| Předmět: |
Male
Erythrocytes Adolescent Congenital dyserythropoietic anemia type II Hemoglobin Sickle Biology Anemia Hemolytic Congenital hemic and lymphatic diseases medicine Humans Hemoglobin A2 Fetal Hemoglobin Anemia Dyserythropoietic Congenital 4-Nitrophenylphosphatase Erythrocyte Membrane Globin chain medicine.disease Red cell membrane Globins Kinetics Biochemistry Child Preschool Pediatrics Perinatology and Child Health Thalassemia Electrophoresis Polyacrylamide Gel Female Congenital dyserythropoietic anemia Dyserythropoietic anemia |
| Zdroj: | Pediatric Research. 16:1016-1021 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-198212000-00010 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|