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 第八章 — 第一节 — 地中海贫血 (thalassemia)


    If one of the βglobin genes fails, the amount of βglobin in the cell is reduced by half. This situation is called thalassemia trait or thalassemia minor(轻型地中海贫血). 轻度贫血,黄疸,脾大, 低色素
     Sometimes, the gene failure is not total, but produces a small amount of normalβ protein. The resulting clinical condition is more severe that thalassemia minor, but less severe than thalassemia major. The clinical condition is termed, thalassemia intermedia (中型地中海贫血).
    Some thalassemia genes produce completely no β globin protein, and are called β0 thalassemia genes . A person with two such genes ( β0 / β0 ) has severe, transfusion-dependent thalassemia, called β- thalassemia major .
     Often, the thalassemia genes produce some βglobin protein, but the amount is reduced. These genes are called β+ thalassemia genes . A person who has one β + and one β0 thalassemia gene ( β0 / β+ ) will have thalassemia major .
     Twoβ + genes ( β + /β+ )can sometimes together produce enough β globin protein so that the patient does not require chronic transfusions to live. This condition is thalassemia intermedia .

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