Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1.
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منابع مشابه
Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
BACKGROUND Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutations as the cause of CDAII opens new possibilities for the molecular diagnosis of the disease. The ...
متن کاملCharacteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.
Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma membrane. Despite ubiquitous expression of SEC23B, the effects of mutations in this gene are confined...
متن کاملClinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.
Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythro...
متن کاملBoth paroxysmal nocturnal hemoglobinuria (PNH) type II cells and PNH type III cells can arise from different point mutations involving the same codon of the PIG-A gene.
H, Testa U: Defect in glycosylation of erythrocyte membrane pro1. Fischer R, Engelhardt R, Nielsen P, Gabbe EE, Schmiegel teins in congenital dyserythropoietic anaemia type II (HEMPAS). WH, Wurbs D, Heinrich HC: Liver iron quantification in the diagBr J Haematol 56:55, 1984 nosis and therapy control of iron overload patients, in Hoke M 8. Parsons SF, Jones J, Anstee DJ, Judson PA, Gardner B, Wi...
متن کاملE109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
OBJECTIVE Congenital dyserythropoietic anemia (CDA) is characterized by ineffective erythropoiesis, binuclearity of erythroid precursors and secondary hemochromatosis. Recently, the gene mutated in CDA type II (CDA II), SEC23B, was identified. All Israeli patients with CDA II are of North African (mainly Moroccan) Jewish descent. We investigated the molecular basis of CDA II in those patients. ...
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عنوان ژورنال:
- Blood
دوره 102 7 شماره
صفحات -
تاریخ انتشار 2003