| 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) |
| congenital spherocytic anaemia | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. Origin: Gr. Haima = blood (27 Sep 1997) |
| spherocytic anaemia | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
| spherocytic jaundice | Haemolytic jaundice associated with spherocytosis. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|