Aziz Abdul, Das Sudipta A, Khan Waqar A, Sadiya Salma, Banu Bilquis, Sarwardi Golam, Luna Rowshon Z
a Department of Biochemistry and Molecular Biology , Dhaka Shishu Hospital , Dhaka , Bangladesh.
b Department of Clinical Pathology , Dhaka Shishu Hospital , Dhaka , Bangladesh.
Hemoglobin. 2017 Jul-Nov;41(4-6):311-313. doi: 10.1080/03630269.2017.1412982.
β-Thalassemia (β-thal) is one of the most common inherited hemoglobin (Hb) disorders, worldwide. A 28-year-old female and her husband came to Dhaka Shishu (Children) Hospital, Bangladesh for prenatal diagnosis for thalassemia mutations. We identified and characterized a novel β-thalassemia (β-thal) mutation due to an insertion of cytosine between codons 77 and 78 (p.Leu78Profs*13) found in mother in a heterozygous state. This mutation caused an insertion in the normal reading frame of the β-globin coding sequence and the new stop codon being the amino acid 90 (HBB: c.235_236insC) in exon 2 that leads to a β-thal phenotype.
β地中海贫血（β-thal）是全球最常见的遗传性血红蛋白（Hb）疾病之一。一名28岁女性及其丈夫前往孟加拉国达卡儿童医院进行地中海贫血突变的产前诊断。我们鉴定并表征了一种新的β地中海贫血（β-thal）突变，该突变是由于在母亲中发现的杂合状态下，第77和78密码子之间插入了胞嘧啶（p.Leu78Profs*13）。这种突变导致β珠蛋白编码序列的正常阅读框中出现插入，新的终止密码子位于外显子2中的第90位氨基酸（HBB：c.235_236insC），导致β地中海贫血表型。
