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BioMed Research International
Volume 2014 (2014), Article ID 271070, 5 pages
Research Article

Clinical Features and Molecular Analysis of Hb H Disease in Taiwan

1Institute of Medicine, Chung Shan Medical University, No. 110, Section 1, Chien-Kuo N. Road, Taichung 402, Taiwan
2Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan
3School of Medicine, Chung Shan Medical University, Taichung, Taiwan
4School of Chinese Medicine, China Medical University, Taichung, Taiwan
5Department of Hemato-Oncology, Children’s Hospital, China Medical University Hospital, China Medical University, Taichung, 5, Taiwan
6Department of Pediatrics, Buddhist Tzu Chi General Hospital, Taichung Branch, Taichung, Taiwan
7Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan
8Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan

Received 23 June 2014; Revised 5 August 2014; Accepted 5 August 2014; Published 28 August 2014

Academic Editor: Aurelio Maggio

Copyright © 2014 Yu-Hua Chao et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 () type of -thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (), followed by (). 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 () genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.