PMID: 10088640Mar 24, 1999

Molecular basis for polycythemia

Current Opinion in Hematology
J T Prchal, J T Prchal

Abstract

This overview concentrates on familial and congenital polycythemias in the context of other polycythemic disorders, with emphasis on those with established molecular lesions. Recent advances in the regulation of erythropoiesis, as they may relate to polycythemic states, are discussed as a background for those well-defined polycythemic states wherein the molecular defect has not yet been elucidated. Primary familial congenital polycythemias and congenital and familial secondary polycythemias, including hemoglobin mutants, methemoglobinemias and congenital 2,3-bisphosphoglycerate deficiency, are discussed. The most common primary polycythemia, polycythemia vera, as well as the only likely endemic congenital secondary polycythemia, known as Chuvash polycythemia, are discussed.

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Related Concepts

Polycythemia Vera
Insulin-Like Growth Factor I
Dioxygen
Bulla
Familial Erythrocytosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Erythropoiesis
Erythropoietin Receptor
Thyroid Hormone Plasma Membrane Transport Defect
Erythrocytosis, Familial,2

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