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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 ...
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.
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
This is a shortened version of the fourth chapter of the ICD-9: Diseases of the Blood and Blood-forming Organs.It covers ICD codes 280 to 289.The full chapter can be found on pages 167 to 175 of Volume 1, which contains all (sub)categories of the ICD-9.
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape.
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.
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Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome TEMPI syndrome is an orphan disease where the patients share five characteristics from which the acronym is derived: telangiectasias , elevated erythropoietin and erythrocytosis , monoclonal gammopathy , perinephric fluid ...