- 學位論文
南臺灣地中海型貧血及相關變異血色素疾病流行病學之轉變
The Epidemiologic Transition of Thalassemia and Associated Hemoglobinopathiesin southern Taiwan
摘要
研究背景 台灣政府早於1993年就開始實施全國性孕婦地中海型貧血篩檢計畫，希望能有效的減少重度甲型地中海型貧血胎兒對孕婦造成的合併症及重度乙型地中海型貧血病童的出生。尤其是在南台灣，隨著境外移民及不同國籍通婚人數的增加，地中海型貧血及相關變異血色素疾病之分布也開始逐漸出現了變化。因此，在這個研究中，我們想要探討針對南台灣地區，地中海型貧血及相關變異血色素疾病其流行病學之轉變。 研究方法 我們蒐集了從 2003 年到 2012年之間，總共1870位南台灣病人之檢體，使用跨越斷裂位點-聚合酶連鎖反應 (gap-polymerase chain reaction) 及 PCR-限制性片段長度多態性(PCR-restriction fragment length polymorphism) 之方法，再加上DNA定序之方法確定地中海型貧血及相關變異血色素疾病之基因型以做確認。再就其結果進行相關統計及分析。 結果 在將1995年及1986年之資料相比對，我們發現針對重型地中海型貧血有91%之比例減少。最常見的甲型地中海型貧血(α- thalassemia)及甲型變異血紅素之基因型，分別為SEA type (69.4%)及HbQuong Sze (1.54%)。最常見的乙型地中海型貧血(β- thalassemia)及乙型變異血紅素之基因型，分別為IVS-II-654 (46.2%) 及Hb E (2.2%)。在與台灣不同地區及不同時期所做的研究間相比對，我們發現在我們的研究中-α3.7、HbQuong Sze以及Hb E有較高的發生率，但是SEA type的發生率有明顯較低的情形。然而，總體而言，SEA type仍是我們觀察中最常見的地中海型貧血基因型。除此之外，我們也觀察到在2003年到 2005年之間，南台灣之-α3.7 type carrier、HbQuong Sze carrier及Gγ(Aγδβ)°病人人數有明顯上升的情形，與國內相關資料比對，此現象可能反映出區域間之差異及不同國籍通婚人數的增加之相關性。 結論 總而言之，國際間的人口移民活動及不同國籍通婚人數的增加，可能間接地改變了台灣的地中海型貧血及相關變異血色素疾病之分布。當然，我們需要更完善的產前篩檢計畫以針對更多新的境外移民人口，以及更長久時間的研究追蹤。
並列摘要
Background and Objectives Since 1993, the government of Taiwan commenced implementation of National Thalassemia Major Prevention Program in order to reduce the incidence and complications of thalassemia major. With the increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. Material and Methods We analyzed 1,870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism -based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing. Results We found a 91% reduction in the incidence of thalassemia major compared with samples from between 1986 and 1995. The most common genotypes of α- thalassemia and α Hbvariants were the SEA type (69.4%) and HbQuong Sze (1.54%). The most common genotypes of β- thalassemia and β Hb variants were IVS-II-654 (46.2%) and Hb E (2.2%),respectively. Compared with studies performed in different areas of and time intervals in Taiwan, a higher prevalence of -α3.7, HbQuong Sze, and Hb E and a lower prevalence of the SEA type were found in this study. However, the SEA type remained the most common genotype observed. In addition, an increasing number of cases with an -α3.7 type carrier, HbQuong Sze carrier, and Gγ(Aγδβ)° were identified following a peak of interracial marriages between 2003 and 2005, reflecting a regional difference and the impact of interracial marriage. Conclusions Global migration and international marriage have changed the distribution of hemoglobinopathies in Taiwan. A more comprehensive prenatal screening for new immigrants with a longer follow-up is warranted.