阿塞拜疆的地中海贫血症。
Thalassaemia in Azerbaijan.
作者信息
Kuliev A M, Rasulov I M, Dadasheva T, Schwarz E I, Rosatelli C, Saba L, Meloni A, Gemidjioglu E, Petrou M, Modell B
机构信息
INSAN Thalassaemia Programme, Baku, Azerbaijan.
出版信息
J Med Genet. 1994 Mar;31(3):209-12. doi: 10.1136/jmg.31.3.209.
beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form of the disorder is typically severe. Typical Turkish, Mediterranean, Azeri, Kurdish, and Asian Indian mutations were found, consistent with the history of the region. The common Mediterranean beta 0 thalassaemia mutation (codon 39) was not found. Three mutations (codon 8-AA, IVS2-1 and IVS1-110) account for over 80% of beta thalassaemia genes. Consanguineous marriage appears to contribute relatively little to the frequency of affected births. These observations provide the basis for a thalassaemia prevention programme in Azerbaijan.
β地中海贫血在前苏联南部地区普遍存在。我们已经明确了该疾病的临床表现、β地中海贫血突变谱，以及习惯近亲结婚在阿塞拜疆所起的作用，在阿塞拜疆，地中海贫血是一个与希腊相当的公共卫生问题。与早期观点相反，我们发现该疾病的常见类型通常较为严重。发现了典型的土耳其、地中海、阿塞拜疆、库尔德和亚洲印度突变，这与该地区的历史相符。未发现常见的地中海β0地中海贫血突变（密码子39）。三种突变（密码子8-AA、IVS2-1和IVS1-110）占β地中海贫血基因的80%以上。近亲结婚似乎对患病出生频率的影响相对较小。这些观察结果为阿塞拜疆的地中海贫血预防计划提供了依据。
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