| HE | Hereditary Elliptocytosis |
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| elliptocytosis | Haematologic disorder characterised by elliptically shaped red blood cells (elliptocytosis) with variable breakup of red cells (haemolysis) and varying degrees of anaemia. Inherited as a dominant trait. Due to mutation (change) in one of the genes encoding proteins of the red cell membrane skeleton. In 1956 Newton Morton brilliantly showed that there were at least 2 forms of elliptocytosis, one form unlinked to the Rh blood group and another form linked to Rh (now known to be on chromosome 1). The Rh-linked form, (EL1) in chromosome region 1p34.2-p33 is due to a mutation in erythrocyte membrane protein 4.1. Forms of elliptocytosis not linked to Rh are due to mutations in the alpha-spectrin gene, the beta-spectrin gene, or the band 3 gene. (12 Dec 1998) |
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| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
Synonyms : Elliptocytoses, Hereditary, Hereditary Elliptocytoses, Hereditary Elliptocytosis, Hereditary Ovalocytoses, Hereditary Ovalocytosis, Ovalocytoses, Hereditary
| elliptocytosis |
presence of large numbers of elliptocytes in the blood; called also ovalocytosis.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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