Genetic and clinical features of hemoglobin H disease in Chinese patients
Genetic and clinical features of hemoglobin H disease in Chinese patients
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DOI：
10.1056/nejm200008243430804
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发表时间：
2000-08-24
影响因子：
158.5
通讯作者：
Chan, V
中科院分区：
文献类型：
--
作者：
Chen, FE;Ooi, C;Chan, V
背景：正常情况下，两个α-珠蛋白基因（α 1和α 2）中的每一个都有一对位于16号染色体的每一个拷贝上。在血红蛋白H疾病中，这四个α-珠蛋白基因中的三个受到缺失、突变或两者的影响。我们研究了α-珠蛋白基因异常和中国患者的血红蛋白H疾病的临床和血液学特征在hongkong.Methods：我们评估了114例血红蛋白H疾病的临床特征，血液学值，血清铁蛋白水平和肝功能。我们还进行了超声心动图和磁共振成像的肝脏，并检查了两对α-珠蛋白genes.Results：血红蛋白H疾病的87 114例（76%）是由于删除的三个四个α-珠蛋白基因（-/-α），一个组合称为删除型血红蛋白H。其余27名患者（24%）患有非缺失型血红蛋白H疾病，其中两个α-珠蛋白基因缺失，第三个基因突变（-/α α（T））。所有87例缺失型血红蛋白H患者均为双杂合子，其中一条染色体上的α-珠蛋白基因均缺失，另一条染色体上的α 1或α 2基因缺失（--/α-或--/-α）。在非缺失型血红蛋白H病患者中发现多种α-珠蛋白基因突变。与缺失型血红蛋白H病患者相比，非缺失型H病患者在年轻时有更多的症状，更严重的溶血性贫血和更大的脾脏，更可能需要输血。铁超载的严重程度是不相关的genotype.Conclusions：中国患者在香港的非缺失型血红蛋白H疾病有更严重的疾病比那些缺失型的疾病。铁超负荷是这两种疾病残疾的主要原因。（N Engl J Med 2000;343：544-50.）（C）2000年，马萨诸塞州医学会。
Background: Normally, one pair of each of the two alpha-globin genes, alpha 1 and alpha 2, resides on each copy of chromosome 16. In hemoglobin H disease, three of these four alpha-globin genes are affected by a deletion, a mutation, or both. We studied the alpha-globin gene abnormalities and the clinical and hematologic features of Chinese patients with hemoglobin H disease in Hong Kong.Methods: We assessed the clinical features, hematologic values, serum ferritin levels, and liver function of 114 patients with hemoglobin H disease. We also performed echocardiography and magnetic resonance imaging of the liver and examined the two pairs of alpha-globin genes.Results: Hemoglobin H disease in 87 of the 114 patients (76 percent) was due to the deletion of three of the four alpha-globin genes (--/-alpha), a combination termed the deletional type of hemoglobin H. The remaining 27 patients (24 percent) had the nondeletional type of hemoglobin H disease, in which two alpha-globin genes are deleted and a third is mutated (--/alpha alpha(T)). All 87 patients with the deletional type of hemoglobin H were double heterozygotes in whom there was a deletion of both alpha-globin genes from one chromosome, plus a deletion of the alpha 1 or alpha 2 gene from the other chromosome (--/alpha- or --/-alpha). A variety of mutated alpha-globin genes was found in the patients with nondeletional type of hemoglobin H disease. Patients with the nondeletional type of the H disease had more symptoms at a younger age, more severe hemolytic anemia, and larger spleens and were more likely to require transfusions than patients with deletional hemoglobin H disease. The severity of iron overload was not related to the genotype.Conclusions: Chinese patients in Hong Kong with the nondeletional type of hemoglobin H disease have more severe disease than those with the deletional type of the disease. Iron overload is a major cause of disability in both forms of the disease. (N Engl J Med 2000;343:544-50.) (C)2000, Massachusetts Medical Society.