Hamid Mohammad, Zargan Nezhad Ebtesam, Galehdari Hamid, Saberi Alihossein, Shariati Gholamreza, Sedaghat Alireza
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Iran Biomed J. 2019 Nov;23(6):429-31. doi: 10.29252/ibj.23.6.429. Epub 2018 Oct 14.
Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly.
A six-year-old boy from Khuzestan Province and his parents were studied. Gap-PCR and direct sequencing were performed to detect the a-globin gene deletions and β-globin gene mutations, respectively.
The subject had a sporadic mutation GTG to ATG (Val [valine]>Met [methionine]) at codon 67 in heterozygous form on β-globin gene, which was not detected in his parents.
Since both parents proved to be normal, this Hb variant could be considered as a de novo mutation, which is highly useful for prenatal diagnosis.
血红蛋白（Hb）阿莱莎是一种罕见且极不稳定的血红蛋白变体，会导致血红素口袋结构破坏，并在杂合状态下引发严重溶血。在本研究中，我们报告了首例源自伊朗南部的患有严重溶血性贫血和轻度脾肿大的伊朗男孩携带此变体的情况。
对一名来自胡齐斯坦省的六岁男孩及其父母进行了研究。分别采用缺口聚合酶链反应（Gap-PCR）和直接测序法检测α-珠蛋白基因缺失和β-珠蛋白基因突变。
该受试者β-珠蛋白基因第67密码子存在杂合形式的散发性突变，即从GTG突变为ATG（缬氨酸[Val]>甲硫氨酸[Met]），其父母未检测到该突变。
由于其父母均被证明正常，这种血红蛋白变体可被视为新发突变，这对产前诊断非常有用。
