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Title: Molecular and cellular characterization of congenital dyserythropoietic anaemia type 1
Author: Ahmed, Momin
ISNI:       0000 0004 2673 4715
Awarding Body: Open University
Current Institution: Open University
Date of Award: 2009
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Congenital dyserythropoietic anaemia type 1 (CDA I) is an autosomal recessive disorder of erythropoiesis characterized by a clinical picture of anaemia secondary to ineffective erythropoiesis, haemolysis and striking morphology of erythroid precursors (inteternuclear chromatin bridges, spongy heterochromatin, invaginations of nuclear membrane) and erythrocytes (macrocytosis, anisocytosis, basophilic stippling) in the bone marrow and peripheral blood smears, respectively. The aim of this work was to 1) collect patients and characterize this rare disease, 2) understand the genetics of CDA I using linkage analysis, 3) identify the CDAN1 gene mutations and finally 4) to study the molecular perturbations which lead to dyserythropoiesis.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available