Farashi Samaneh, Bayat Nooshin, Vakili Shadi, Faramarzi Garous Negin, Ashki Mehri, Imanian Hashem, Najmabadi Hossein, Azarkeivan Azita
a Genetics Research Center , University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.
b Molecular Department, Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
Expert Rev Hematol. 2016 Jan;9(1):107-13. doi: 10.1586/17474086.2016.1107470. Epub 2015 Nov 2.
Hb H disease is an alpha-thalassemia (α-thal) syndrome characterized by chronic hemolytic anemia that occurs when three of total four α-globin genes lost their function due to completely deletions or different kind of mutations.
We here described 66 patients who have been diagnosed for Hb H disease during the last five years in our center. The genotypes involving point mutations present more severe phenotype than deletional forms that make them of primary important to health management.
Hb H subjects carry different α-globin genotypes including deletional and non-deletional mutations showing heterogenous clinical manifestations.
The Hb H patients presenting a wide range of phenotype carried different deletional, non-deletional mutations or compound heterozygosity of them.
We emphasize the importance of some point mutations responsible for more severe form of Hb H disease in Iranian population and the necessity for consideration of prenatal diagnosis (PND) in high-risk couples.
血红蛋白H病是一种α地中海贫血（α-地贫）综合征，其特征为慢性溶血性贫血，当四个α珠蛋白基因中的三个因完全缺失或不同类型的突变而丧失功能时就会发生。
我们在此描述了过去五年在我们中心被诊断为血红蛋白H病的66例患者。涉及点突变的基因型比缺失型具有更严重的表型，这使其在健康管理中至关重要。
血红蛋白H患者携带不同的α珠蛋白基因型，包括缺失型和非缺失型突变，表现出异质性临床表现。
呈现广泛表型的血红蛋白H患者携带不同的缺失型、非缺失型突变或它们的复合杂合性。
我们强调了伊朗人群中一些导致更严重形式血红蛋白H病的点突变的重要性，以及高危夫妇进行产前诊断（PND）的必要性。
