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Chuvash erythrocytosis or Chuvash polycythemia is an autosomal recessive form of erythrocytosis endemic in patients from the Chuvash Republic in Russia. Chuvash erythrocytosis is associated with homozygosity for a C598T mutation in the von Hippel–Lindau gene ( VHL ), which is needed for the destruction of hypoxia-inducible factors in the ...
In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. [1] The majority of cases [2] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.
Life cycle of a red blood cell. Erythropoiesis (from Greek 'erythro' meaning "red" and 'poiesis' "to make") is the process which produces red blood cells (erythrocytes), which is the development from erythropoietic stem cell to mature red blood cell.
This is an incomplete list, which may never be able to satisfy certain standards for completion.. There are many conditions of or affecting the human hematologic system—the biological system that includes plasma, platelets, leukocytes, and erythrocytes, the major components of blood and the bone marrow.
Erythrocytosis (increase in the number of red blood cells) Leukocytosis (increase in the number of white blood cells) Thrombocytosis (increase in the number of platelets) Myeloproliferative disorder; Transient myeloproliferative disease; Coagulopathies (disorders of bleeding and coagulation) Thrombocytosis; Recurrent thrombosis
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Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.