YU-HUA CHAOKANG-HSI WU2026-10-162026-10-162014-01-01Pure ID: 14991619Pure UUID: fe01d6a7-d03e-4e6a-8d1a-56fe364429b710.1155/2014/271070https://www.scopus.com/pages/publications/84935884406https://scholars.csmu.edu.tw/handle/123456789/23012Thalassemia 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 α0 -thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (- -SEA / - α 3.7), followed by (- -SEA / αcs 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 (- - / αcs α) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.enjournal article