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- Title
Clinical Features and Molecular Analysis of Hb H Disease in Taiwan.
- Authors
Yu-Hua Chao; Kang-Hsi Wu; Han-Ping Wu; Su-Ching Liu; Ching-Tien Peng; Maw-Sheng Lee
- Abstract
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 nondeletionalHbHdisease. The(- -SEA) type of α°-thalassemiamutation was detected in the majority of patients (>95%).Themost common genotype was (- -SEA/-α3.7), followed by (- -SEA/αcsα). 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 higherHbHlevels. The clinical severity was highly variable even among patients with an identical genotype, and the diversity wasmuchmore profound among patients with (- -/αcsα) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.
- Publication
BioMed Research International, 2014, Vol 2014, p1
- ISSN
2314-6133
- Publication type
Article
- DOI
10.1155/2014/271070