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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 ...
Myomatous erythrocytosis syndrome (MES) is an uncommon gynecological disorder associated with isolated polycythemia and uterine fibroids. The primary feature of myomatous erythrocytosis syndrome is that hemoglobin goes back to its baseline level following the removal of the myoma .
Symptoms of anaemia include Plummer–Vinson syndrome, candidal infections. Altered taste sensation, smooth, red painful burning sensation of tongue, filiform followed by fungiform papillae atrophy may also be seen. Others include generalized stomatitis, angular cheilitis and gingivitis. [citation needed]
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.
Early symptoms include anemia, jaundice, splenomegaly, and fatigue. [2] Acute cases can threaten to cause hypoxia secondary to anemia and acute kernicterus through high blood levels of bilirubin, particularly in newborns. Most cases can be detected soon after birth. Testing for HS is available for the children of affected adults.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
Macrocytic anemia is a class of anemia characterized by the presence of predominantly larger-than-normal red blood cells (RBC, also known as erythrocytes) accompanied by low numbers of RBC and often also with insufficient hemoglobin content per cell.
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 ...