密码子14（+T）（HBB：c.44_45insT）：一种仅在阿塞拜疆报道过的罕见β地中海贫血突变。
Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.
作者信息
Aliyeva Gunay, Asadov Chingiz, Mammadova Tahira, Musayev Shirkhan, Abdulalimov Eldar, Gafarova Surmaya, Guliyeva Yegana
机构信息
a Department of Haemopoietic Pathologies , Institute of Hematology and Blood Transfusion , Baku , Azerbaijan.
b NS Genetics , Baku , Azerbaijan.
出版信息
Hemoglobin. 2018 Jul;42(4):276-277. doi: 10.1080/03630269.2018.1528987. Epub 2018 Nov 13.
Codon 14 (+T) (HBB: c.44_45insT) is a very rare β-thalassemia (β-thal) mutation previously reported in three β-thal major (β-TM) patients of Azerbaijani origin. None of the previous reports described the genotype-phenotype correlation of the mutation. We here report the first case of homozygous codon 14 together with data of the heterozygous parents.
密码子14（+T）（HBB：c.44_45insT）是一种非常罕见的β地中海贫血（β-地贫）突变，此前在3例阿塞拜疆裔β地中海贫血重型（β-TM）患者中报道过。既往报道均未描述该突变的基因型-表型相关性。我们在此报告首例纯合密码子14病例以及杂合子父母的数据。
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