Dataset Information

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 ?-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 ?(0)-thalassemia mutation was detected in the majority of patients (>95%). The most common genotype was (-?-(SEA)/-?(3.7)), followed by (-?-(SEA)/?(cs)?). 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 (-?-/?(cs)?) genotype. Therefore, predicting the phenotype directly from the genotype in Hb H disease remains relatively difficult in Taiwan.

SUBMITTER: Chao YH

PROVIDER: S-EPMC4163353 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Clinical features and molecular analysis of Hb H disease in Taiwan.

Chao Yu-Hua YH Wu Kang-Hsi KH Wu Han-Ping HP Liu Su-Ching SC Peng Ching-Tien CT Lee Maw-Sheng MS

BioMed research international 20140828

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%). ...[more]

PMID: 25309906

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Project description:Background: Understanding the prescribing patterns could better inform irritable bowel syndrome (IBS) management and health policy. However, there is no study on prescribing patterns of IBS in Taiwan. This study was conducted to evaluate the epidemiology, clinical features, and prescribing patterns of IBS in Taiwan. Methods: This population-based cross-sectional study was performed by retrieving claim data from National Health Insurance Research Database (NHIRD) between 2011 and 2018 in Taiwan. Patients who were diagnosed with IBS during 2012-2018 and more than 20 years old were included. The annual incidence and prevalence of IBS were estimated. The characteristics and prescribing pattern were evaluated among IBS population. The population with IBS were followed from index date until 1 year after or death. Results: A total of 1691596 patients diagnosed with IBS were identified from 2012 to 2018. The average annual incidence and prevalence of IBS in Taiwan were calculated as 106.54 and 181.75 per 10,000 population. The incidence and prevalence showed a decreasing trend from 2012 to 2018. Hypertension, dyslipidemia, chronic liver disease, peptic ulcer, gastroesophageal reflux disease (GERD), anxiety, and sleep disorder were the prevalent comorbidities in IBS population. At 1 year after IBS diagnosis, the rates of peptic ulcer and GERD; the utilizations of abdominal ultrasonography, upper gastrointestinal (GI) endoscopy, and lower GI endoscopy; the prescribing rate of propulsives, simethicone, antacids, H2-blockers, and proton pump inhibitors significantly increased. Approximately 70% of participants received IBS-related treatment. Antispasmodics was the most frequently prescribed medication class, followed by laxatives and antidiarrheals. Only 48.58% of patients made return visit for IBS at 1 year after IBS diagnosis. Consequently, the proportion of consultation for IBS and the prescribing rates of all medications were decreased considerably after IBS diagnosis. Conclusion: The incidence and prevalence of IBS showed a decreasing trend from 2012 to 2018. More than two-third of patients received treatment for IBS. Antispasmodics was widely used for IBS management. However, patients may have a short symptom duration or receive a short course of IBS-related treatment in Taiwan. These findings provided the whole picture of the epidemiology and prescribing pattern of the IBS population in Taiwan.

Dataset Information

Clinical features and molecular analysis of Hb H disease in Taiwan.

Publications

Clinical features and molecular analysis of Hb H disease in Taiwan.

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