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Polycythemia vera - chance, death, and mutability

Article Abstract:

Polycythemia vera, a blood disorder characterized by overproduction of blood cells, may reflect a derangement in the normal process of apoptosis, or programmed cell death. Bone marrow produces precursor cells that ultimately differentiate into red and white blood cells and platelets. The Bcl-2 family of genes regulate cell death, and thus the number of blood cells present. Researchers have found changes in this mechanism that may explain how the levels of red blood cells and platelets become elevated in polycythemia vera. These cells may accumulate because too few of them die.

Author: Schwartz, Robert S.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1998
Health aspects, Editorial, Causes of, Cell death, Myeloproliferative disorders, Polycythemia vera

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A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

Article Abstract:

The article examines a family with erythrocytosis and a mutation in the Hypoxia-inducible factor (HIF) [alpha] gene, which encodes the HIF2A protein. It suggests that the HIF [alpha] gene regulates erythropoietin production in adults.

Author: Percy, Melanie J., Furlow, Paul W., Lucas, Guy S., Li, Xiping, Lappin, Terence R.J., McMullin, Mary Frances, Lee, Frank S.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2008
United States, Science & research, Research, Case studies, Diagnosis, Mutation (Biology), Mutation, Polycythemia

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Subjects list: Genetic aspects
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