Aliyeva Gunay, Abdulalimov Eldar, Asadov Chingiz, Mammadova Tahira, Gafarova Surmaya, Guliyeva Yegana
Department of Haemopoietic Pathologies, Institute of Haematology and Blood Transfusion, Baku, Azerbaijan.
Hemoglobin. 2021 Nov;45(6):347-348. doi: 10.1080/03630269.2018.1470534. Epub 2018 Jun 12.
The -92 (C>T) (: c.-142C>T) is a silent β-thalassemia (β-thal) mutation previously described in combination with several β mutations and expressed as β-thal intermedia (β-TI). Heterozygous individuals are known to be completely asymptomatic showing borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A levels. Here, we report the first incidence of -92 in Eastern Europe and in Azerbaijan, and the first case in combination with codons 36/37 (-T) (: c.112delT) mutation.
-92（C>T）（：c.-142C>T）是一种沉默的β地中海贫血（β-地贫）突变，此前曾与多种β突变一起被描述，并表现为中间型β地中海贫血（β-TI）。已知杂合子个体完全无症状，血红蛋白（Hb）、平均红细胞体积（MCV）和Hb A水平处于临界值。在此，我们报告了-92在东欧和阿塞拜疆的首例发生率，以及与密码子36/37（-T）（：c.112delT）突变组合的首例病例。
