title: Clinical features and molecular analysis of Hb H disease in Taiwan.
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 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.
authors.affiliation: 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.
authors.forename: Yu-Hua
authors.initials: YH
authors.lastname: Chao
authors.affiliation: 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.
authors.forename: Kang-Hsi
authors.initials: KH
authors.lastname: Wu
authors.affiliation: Department of Pediatrics, Buddhist Tzu Chi General Hospital, Taichung Branch, Taichung, Taiwan.
authors.forename: Han-Ping
authors.initials: HP
authors.lastname: Wu
authors.affiliation: Department of Hemato-Oncology, Children's Hospital, China Medical University Hospital, China Medical University, Taichung, Taiwan.
authors.forename: Su-Ching
authors.initials: SC
authors.lastname: Liu
authors.affiliation: 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 ; Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan.
authors.forename: Ching-Tien
authors.initials: CT
authors.lastname: Peng
authors.affiliation: Institute of Medicine, Chung Shan Medical University, No. 110, Section 1, Chien-Kuo N. Road, Taichung 402, Taiwan ; Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Maw-Sheng
authors.initials: MS
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion / Q000235:genetics; D013624:Taiwan; D055815:Young Adult; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology*