Hundrieser J, Sanguansermsri T, Papp T, Flatz G
Department of Human Genetics, Medizinische Hochschule Hannover, FRG.
Hum Hered. 1988;38(4):211-5. doi: 10.1159/000153787.
The frequency of alpha-thalassemias in northern Thailand was estimated using DNA techniques. Among 106 healthy adult Thais from the Chiangmai area, 28 were shown to carry alpha-globin gene anomalies. There were 19 heterozygotes and 1 homozygote for alpha-thalassemia-2. One of the alpha-thalassemia-2 deletions was of the -alpha 4.2 type and the remaining 20 of the -alpha 3.7 type (subtype I). Deletions of both alpha-globin genes on one chromosome (alpha-thalassemia-1) of the Southeast Asian type were observed in 5 cases, and 3 alpha-globin gene triplications were identified. Compared with a previous report on alpha-thalassemia in northern Thailand which was based on the determination of hemoglobin Bart's in cord blood, the present DNA study reveals a similar frequency of alpha-thalassemia-2 but a considerably lower frequency of alpha-thalassemia-1.
利用DNA技术对泰国北部α地中海贫血的发生率进行了评估。在来自清迈地区的106名健康成年泰国人中，有28人被证明携带α珠蛋白基因异常。其中有19例α地中海贫血-2杂合子和1例纯合子。其中1例α地中海贫血-2缺失为-α4.2型，其余20例为-α3.7型（亚型I）。在5例中观察到一条染色体上的两个α珠蛋白基因均缺失（东南亚型α地中海贫血-1），并鉴定出3例α珠蛋白基因三倍体。与之前一项基于脐血中血红蛋白Bart's测定的泰国北部α地中海贫血报告相比，目前的DNA研究显示α地中海贫血-2的发生率相似，但α地中海贫血-1的发生率要低得多。
