- John-John B. SchnogAffiliated withDepartment of Internal Medicine, Slotervaart Hospital
- , Victor E. A. GerdesAffiliated withAmsterdam Vascular Medicine Group, Department of Vascular Medicine, Academic Medical Center
Cooley’s anemia (synonymous for β-thalassemia major); Hb Bart’s hydrops fetalis (synonymous for alpha 0 thalassemia homozygosity)
Definition and Characteristics
Recessive hereditary disorders caused by a deficiency in hemoglobin polypeptide chain synthesis. The diseases are characterized by variable degrees of hemolytic anemia with ineffective erythropoiesis and secondary hemochromatosis, splenomegaly, and bony deformations due to extramedullary hematopoiesis. Most patients with thalassemia major die from complications of iron overload [1,2].
Most common genetic disorder worldwide, with high frequencies in the Mediterranean, the Middle East, South-East Asia, India, Burma and Africa .
Four α genes (αα/αα; 16ptr-p13.3) encode for α globin chain synthesis and two β genes (11p15.5) encode β globin chain synthesis. Most mutations leading to α thalassemia are gene deletions, whereas in β thalassemia, most mutations af ...
Reference Work Entry Metrics
- Thalassemia Syndromes
- Reference Work Title
- Encyclopedia of Molecular Mechanisms of Disease
- pp 2041-2042
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- Springer Berlin Heidelberg
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- Springer-Verlag GmbH Berlin Heidelberg
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- Editor Affiliations
- 1. Institute of Physiology, University of Tuebingen
- Author Affiliations
- 1. Department of Internal Medicine, Slotervaart Hospital, Amsterdam, The Netherlands
- 2. Amsterdam Vascular Medicine Group, Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
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