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標題: 台灣人血紅素基因病變血液學表徵與基因損害的 相關性
Correlation between hematological features and genetic lesions of hemoglobin gene disorders in Taiwanese patients
作者: 林惠茹
Lin, Hui-Ju
關鍵字: α-thalassemia;甲型地中海型貧血;β-thalassemia;hemoglobin variant;Taiwanese.;乙型地中海型貧血;變異血紅素;台灣人
出版社: 生命科學院碩士在職專班
血紅素基因的病變是台灣常見的遺傳病之一,主要包括甲型、乙型地中海型貧血及變異血紅素。在這篇論文中,我們收集還分析了930個血紅素基因病變的病人檢體,但不包括水胎(Hb Barts hydrops)及重型乙型海洋性貧血;在930位病人中,有650位為甲型地中海型貧血;225位為乙型地中海型貧血;9位為甲型地中海型貧血合併乙型地中海型貧血;及46位為變異學紅素或變異血紅素合併甲型或乙型地中海型貧血。
我們的結果顯示,甲型地中海型貧血中,以α0-thalassemia的東南亞型缺損(α0-thalassemia of SEA type)及α+- thalassemia的α3.7缺損最常見;而乙型地中海型貧血以IVS-2 nt 654 C→T mutation最常見。而變異血紅素最常見的為HbCS和HbG-Taichung.。
我們比較不同血紅素基因病變的基因型及血液學表徵的相關性,發現α0-thalassemia的不同基因型具有相似的臨床表徵;β+突變或β+突合併α0-thalassemia的Hb及MCV比β0突變或是β0突變合併α0-thalassemia高。而乙型地中海型貧血和乙型地中海型貧合併α0-thalassem的血液學表徵則無不同。α0-thalassemia合併β globin變異或是乙型地中海型貧血合併α-globin變異的血液學表徵和α0-thalassemia或是乙型地中海型貧血相似。甲型地中海型貧性合併α-globin變異或是乙型地中海型貧血合併β globin變異的血液學表徵決定變異的形式。在臨床上乙型地中海型貧血的點突變和乙型地中海型貧血的HPFH of SEA type缺損是不嚴重的,所以病人不需要輸血。

Hemoglobin (Hb) gene disorders are one of most common inherited diseases in Taiwan, which includes α-thalassemia, β-thalassemia, and associated hemoglobin variants. In this study, we collected and analyzed mutations found in 930 patients of hemoglobin gene disorders except for Hb Bart's Hydrops and β-thalassemia major. The patients included 650 cases of α-thalassemia, 225 cases of β-thalassemia, 9 cases of α-thalassemia combined with β-thalassemia, and 46 cases of Hb variants or Hb variants combined with α-thalassemia or β-thalassemia. Our results showed that the most common type of α-thalassemia and α-thalassemia mutation is SEA type deletion and α3.7 deletion, respectively, and the most common type of β-thalassemia mutation is the IVS-2 nt 654 C→T mutation, and the most common Hb variant is the HbCS and HbG-Taichung. We compared the relationship between the genotypes and the hematological phenotypes of different hemoglobin gene disorders and found that different genotypes of α0-thalassemia have similar hematological features; β+ mutation or β+ combined α0 -thalassemia has higher Hb and MCV than β0 mutation or β0 with α0 -thalassemia. There is no difference between β-thalassemia and β-thalassemia with α0-thalassemia. The hematological features of α0 -thalassemia with β-globin variant or β-thalassemia with α-globin variant is similar with α0-thalassemia or β-thalassemia, respectively. The hematological features of α-thalassemia with α-globin variant or β-thalassemia with β-globin variant are dependent on the character of the variant form. The clinical features of point mutation of β-thalassemia with deletional mutation of HPFH of SEA type of β-thalassemia are usually not severe, and the patients may not require transfusion. In conclusion, our study provide a useful data for clinicians to evaluate patients of hemoglobin gene disorder.
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