Hamid Mohammad, Shariati Gholamreza, Saberi Alihossein, Galehdari Hamid, Kaikhaei Bijan, Mohammadi-Anaei Marziye
Department of Molecular Medicine, Biotechnology Research Centre, Pasteur Institute of Iran, Tehran, Iran.
Hemoglobin. 2013;37(5):477-80. doi: 10.3109/03630269.2013.792095. Epub 2013 May 15.
We report a novel mutation on the α2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that we named Hb Ahvaz. This mutation was detected by cellulose acetate electrophoresis and characterized by molecular studies. Hb Ahvaz does not seem to be responsible for hematological abnormalities in the carriers, but with α(0)-thalassemia (α(0)-thal) defects, might induce severe clinical symptoms.
我们报告了α2-珠蛋白基因上的一个新突变,密码子83(T>G),该突变在来自伊朗南部胡齐斯坦省的两个无关家庭的两名成员中被检测到,我们将其命名为Hb Ahvaz。通过醋酸纤维素电泳检测到该突变,并通过分子研究对其进行了表征。Hb Ahvaz似乎与携带者的血液学异常无关,但与α(0)-地中海贫血(α(0)-thal)缺陷一起,可能会引发严重的临床症状。