1. Clinical Features and Molecular Analysis of Hb H Disease in Taiwan
- Author
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Kang Hsi Wu, Ching-Tien Peng, Yu Hua Chao, Maw Sheng Lee, Han Ping Wu, and Su Ching Liu
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Article Subject ,Thalassemia ,Taiwan ,lcsh:Medicine ,Alpha-thalassemia ,Gastroenterology ,General Biochemistry, Genetics and Molecular Biology ,Young Adult ,alpha-Thalassemia ,Internal medicine ,Genotype ,Humans ,Medicine ,Hb h disease ,Genetic Predisposition to Disease ,Young adult ,Child ,Genetic Association Studies ,Sequence Deletion ,General Immunology and Microbiology ,business.industry ,lcsh:R ,Infant ,General Medicine ,Middle Aged ,Jaundice ,medicine.disease ,Phenotype ,Molecular analysis ,Child, Preschool ,Female ,medicine.symptom ,business ,Research Article - 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 nondeletional Hb H disease. The (- -SEA) type ofα0-thalassemia mutation was detected in the majority of patients (>95%). The most 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 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 (- -/αcsα) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.
- Published
- 2014
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