Farashi Samaneh, Rad Fariba, Shahmohammadi Bahram, Imanian Hashem, Azarkeivan Azita, Najmabadi Hossein
a Genetics Research Center, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.
b Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
Hemoglobin. 2016;40(2):102-7. doi: 10.3109/03630269.2015.1135445. Epub 2016 Feb 5.
A distinct set of mutations on the β-globin gene leads to dominantly inherited β-thalassemia (β-thal) that is associated with a disease phenotype in a single mutant copy. We described molecular and hematological characteristics of a novel elongated β-globin chain in combination with a known hemoglobin (Hb) variant (N-Baltimore or HBB: c.286A>G) in cis. The highly unstable Hb variant caused typical features of β-thal major (β-TM) or β-thal intermedia (β-TI) in two members of a family depending on their α-globin genotypes. The β mutant allele of the mother was transmitted in an autosomal dominant fashion to her daughter. They resemble severe forms of β-thal due to ineffective erythropoiesis. Taken together with previously published data, this result indicates that a dominant form of β-thal should be regarded as a phenotypic term of hemoglobinopathies caused by β chain variants that are highly unstable.
β-珠蛋白基因上一组独特的突变会导致显性遗传的β地中海贫血（β-地贫），单个突变拷贝就会出现疾病表型。我们描述了一种新型延长型β-珠蛋白链与顺式排列的已知血红蛋白（Hb）变体（N-巴尔的摩或HBB：c.286A>G）相结合的分子和血液学特征。这种高度不稳定的Hb变体在一个家族的两名成员中，根据其α-珠蛋白基因型，导致了重型β-地贫（β-TM）或中间型β-地贫（β-TI）的典型特征。母亲的β突变等位基因以常染色体显性方式遗传给了她的女儿。由于红细胞生成无效，她们类似于严重形式的β-地贫。结合先前发表的数据，这一结果表明，显性形式的β-地贫应被视为由高度不稳定的β链变体引起的血红蛋白病的一种表型术语。
