Sadiq M F, Huisman T H
Department of Biological Sciences, Yarmouk University, Irbid, Jordan.
Hemoglobin. 1994 Sep;18(4-5):325-32. doi: 10.3109/03630269408996198.
We have studied the beta-thalassemia mutations in 91 chromosomes of 43 patients with beta-thalassemia major and five with Hb S-beta-thalassemia, aged 6 months to 24 years. Many are blood transfusion-dependent and are being treated at the major hospital, the Princess Basma Hospital, in Irbid, Jordan. As many as 13 different mutations have been identified; three Mediterranean mutations [IVS-I-110 (G-->A), IVS-II-I (G-->A), and IVS-II-745 (C-->G)] were present in 54% of the chromosomes tested, while six other Mediterranean alleles were found in 24% of the chromosomes, for a total of 78% of Mediterranean origin. Sixteen chromosomes carried mutations which were observed in Arabian, Southeast Asian/Indian, and Iranian/Egyptian or Black populations; four beta-thalassemia mutations remained unidentified.
我们研究了43例重型β地中海贫血患者和5例Hb S-β地中海贫血患者共91条染色体中的β地中海贫血突变情况，这些患者年龄在6个月至24岁之间。许多患者依赖输血，正在约旦伊尔比德的主要医院——巴斯玛公主医院接受治疗。已鉴定出多达13种不同的突变；三种地中海突变[IVS-I-110（G→A）、IVS-II-1（G→A）和IVS-II-745（C→G）]出现在54%的检测染色体中，另外六种地中海等位基因出现在24%的染色体中，地中海起源的突变总计占78%。16条染色体携带在阿拉伯人、东南亚/印度人、伊朗/埃及人或黑人人群中观察到的突变；四种β地中海贫血突变仍未明确。
