el-Kalla S, Mathews A R
Pediatric and Genetic Department, Al Wasl Maternity and Pediatric Hospital, Dubai, United Arab Emirates.
Hemoglobin. 1995 May-Jul;19(3-4):183-9. doi: 10.3109/03630269509036938.
During our survey of beta-thalassemia mutations among residents of the United Arab Emirates, we came across a Sikh family who had two new beta-thalassemia mutations. The father had a frameshift mutation at codons 47/48 (+ATCT), and the mother another frameshift mutation at codons 57/58 (+C). The offspring of this family were two daughters with beta-thalassemia trait and a boy with a compound heterozygosity. The boy, who was transfusion-dependent from the age of 7 months, had a successful bone marrow transplant from his eldest sister at the age of 13 months.
在我们对阿拉伯联合酋长国居民的β地中海贫血突变进行调查期间，我们遇到了一个锡克教家庭，该家庭有两个新的β地中海贫血突变。父亲在第47/48密码子处有一个移码突变（+ATCT），母亲在第57/58密码子处有另一个移码突变（+C）。这个家庭的后代是两个患有β地中海贫血特征的女儿和一个患有复合杂合性的男孩。这个男孩从7个月大开始就依赖输血，在13个月大时成功接受了来自他大姐的骨髓移植。
