Farashi Samaneh, Faramarzi Garous Negin, Ashki Mehri, Vakili Shadi, Zeinali Fatemah, Imanian Hashem, Azarkeivan Azita, Najmabadi Hossein
Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran .
Hemoglobin. 2015;39(3):152-5. doi: 10.3109/03630269.2015.1027915. Epub 2015 May 15.
Hb H (β4) disease is caused by deletion or inactivation of three out of four α-globin genes. A high incidence of Hb H disease has been reported all over the world. There is a wide spectrum of phenotypic presentations, from clinically asymptomatic to having significant hepatosplenomegaly and requiring occasional or even regular blood transfusions, even more severe anemia, Hb Bart's (γ4) hydrops fetalis syndrome that can cause death in the affected fetuses late in gestation. We here present a case who was diagnosed with Hb H disease that represents a new genotype for this hereditary disorder. Hb Dartmouth is a variant caused by a missense mutation at codon 66 of the α2-globin gene (HBA2: c.200T>C), resulting in the substitution of leucine by proline. We here emphasize the importance of this point mutation involving Hb H disease and also the necessity for prenatal diagnosis (PND) for those who carry this point mutation in the heterozygous state.
血红蛋白H（β4）病是由四个α-珠蛋白基因中的三个缺失或失活引起的。世界各地均报道了血红蛋白H病的高发病率。其临床表现范围广泛，从临床无症状到有明显肝脾肿大并需要偶尔甚至定期输血，更严重的贫血、血红蛋白巴特（γ4）胎儿水肿综合征可导致受影响胎儿在妊娠晚期死亡。我们在此报告一例被诊断为血红蛋白H病的病例，该病例代表了这种遗传性疾病的一种新基因型。达特茅斯血红蛋白是由α2-珠蛋白基因（HBA2：c.200T>C）第66密码子的错义突变引起的一种变体，导致亮氨酸被脯氨酸取代。我们在此强调这一点突变与血红蛋白H病的相关性以及对杂合状态携带此点突变者进行产前诊断（PND）的必要性。
