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Clinical Features and Molecular Analysis of Hb H Disease in Taiwan
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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163353/ https://www.ncbi.nlm.nih.gov/pubmed/25309906 http://dx.doi.org/10.1155/2014/271070 |
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author | Chao, Yu-Hua Wu, Kang-Hsi Wu, Han-Ping Liu, Su-Ching Peng, Ching-Tien Lee, Maw-Sheng |
author_facet | Chao, Yu-Hua Wu, Kang-Hsi Wu, Han-Ping Liu, Su-Ching Peng, Ching-Tien Lee, Maw-Sheng |
author_sort | Chao, Yu-Hua |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4163353 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-41633532014-10-12 Clinical Features and Molecular Analysis of Hb H Disease in Taiwan Chao, Yu-Hua Wu, Kang-Hsi Wu, Han-Ping Liu, Su-Ching Peng, Ching-Tien Lee, Maw-Sheng Biomed Res Int Research Article 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. Hindawi Publishing Corporation 2014 2014-08-28 /pmc/articles/PMC4163353/ /pubmed/25309906 http://dx.doi.org/10.1155/2014/271070 Text en Copyright © 2014 Yu-Hua Chao et al. https://creativecommons.org/licenses/by/3.0/ 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. |
spellingShingle | Research Article Chao, Yu-Hua Wu, Kang-Hsi Wu, Han-Ping Liu, Su-Ching Peng, Ching-Tien Lee, Maw-Sheng Clinical Features and Molecular Analysis of Hb H Disease in Taiwan |
title | Clinical Features and Molecular Analysis of Hb H Disease in Taiwan |
title_full | Clinical Features and Molecular Analysis of Hb H Disease in Taiwan |
title_fullStr | Clinical Features and Molecular Analysis of Hb H Disease in Taiwan |
title_full_unstemmed | Clinical Features and Molecular Analysis of Hb H Disease in Taiwan |
title_short | Clinical Features and Molecular Analysis of Hb H Disease in Taiwan |
title_sort | clinical features and molecular analysis of hb h disease in taiwan |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163353/ https://www.ncbi.nlm.nih.gov/pubmed/25309906 http://dx.doi.org/10.1155/2014/271070 |
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