- 期刊
Molecular Diagnosis of Thalassemia in Taiwan
台灣地區地中海貧血之分子診斷
摘要
地中海貧血是台灣地區常見的遺傳疫病之一，它主要包括甲型地中海貧血及乙型地中海貧血，而甲型地中海貧血又分成少一個基因、少二個基因、少三個基因及少四個基因等四種情形；至於乙型地中海貧血則分別為一個、二個乙型血紅素球蛋白基因的病變等兩種情形。在其中少四個甲型血紅素基因將造成水胎，使胎兒早產或胎死腹中；而二個基因病變的嚴重型乙型地中海貧血的小孩，則須長期輸血，造成家庭、社會的重大負擔。最近四、五年，由於分子生物技術的發展，使我們對於這些疾病均能做快速而精確的基因診斷及早期產前的基因診斷。而目前衛生署對於這些病的種視及輔助，可見的末來，這些重型的病例將很快的消失。
關鍵字
無資料並列摘要
Thalassemia is an autosomal recessive disease characterized by absent or decreased synthesis of the globin chain. This disease is very common in Taiwan area. It mainly consists of α- and β-thalassemia. The diagnosis of these entities depends on hemoglobin electrophoresis, mean corpuscular volume (MCV), or mean hemoglobin concentration of red blood cell and excludes the disease of iron deficiency anemia. However, these tests are not reliable. The definite diagnosis is to check the hemoglobin genes directly. In recent years, we have developed several molecular techniques to solve these problems. This review focuses on the techniques which are used recently in Taiwan area.