Chao Yu-Hua, Wu Kang-Hsi, Wu Han-Ping, Liu Su-Ching, Peng Ching-Tien, Lee Maw-Sheng
Institute of Medicine, Chung Shan Medical University, No. 110, Section 1, Chien-Kuo N. Road, Taichung 402, Taiwan ; Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan ; School of Medicine, Chung Shan Medical University, Taichung, Taiwan.
School of Chinese Medicine, China Medical University, Taichung, Taiwan ; Department of Hemato-Oncology, Children's Hospital, China Medical University Hospital, China Medical University, Taichung, Taiwan.
Biomed Res Int. 2014;2014:271070. doi: 10.1155/2014/271070. Epub 2014 Aug 28.
Thalassemia is highly prevalent in Taiwan, but limited data are available about the association between genotypes and clinical manifestations in Taiwanese patients with Hb H disease. Here, we studied α-globin gene abnormalities and clinical features in Taiwanese patients with Hb H disease. Of the 90 patients, sixty-four (71.1%) were deletional and twenty-six (28.9%) were nondeletional Hb H disease. The (- -(SEA)) type of α(0)-thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (- -(SEA)/-α(3.7)), followed by (- -(SEA)/α(cs)α). After further investigation of the genotype-phenotype correlation in 68 patients, we found that patients with nondeletional Hb H disease had more severe clinical features than those with deletional Hb H disease, including younger age at diagnosis, more requirement of blood transfusions, and larger proportion of patients with splenomegaly, hepatomegaly or jaundice. This is probably a consequence of the lower hemoglobin levels and the higher Hb H levels. The clinical severity was highly variable even among patients with an identical genotype, and the diversity was much more profound among patients with (- -/α(cs)α) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.
地中海贫血在台湾地区极为常见，但关于台湾地区血红蛋白H病（Hb H病）患者的基因型与临床表现之间关联的数据却十分有限。在此，我们对台湾地区Hb H病患者的α珠蛋白基因异常情况及临床特征展开了研究。在这90名患者中，64名（71.1%）为缺失型，26名（28.9%）为非缺失型Hb H病。大多数患者（>95%）检测到α0地中海贫血突变的（--(SEA)）类型。最常见的基因型是（--(SEA)/-α(3.7)），其次是（--(SEA)/α(cs)α）。在对68名患者进一步研究基因型与表型的相关性后，我们发现非缺失型Hb H病患者的临床特征比缺失型Hb H病患者更为严重，包括诊断时年龄更小、输血需求更多，以及脾肿大、肝肿大或黄疸患者的比例更高。这可能是血红蛋白水平较低和Hb H水平较高的结果。即使在基因型相同的患者中，临床严重程度也存在很大差异，而在（-/-α(cs)α）基因型的患者中这种差异更为显著。因此，在台湾地区，直接根据基因型预测Hb H病的表型仍然相对困难。
