https://scholars.lib.ntu.edu.tw/handle/123456789/526455
標題: | Impact of a National β-Thalassemia Carrier Screening Program on the birth rate of thalassemia major | 作者: | Chern J.P.S. Lin K.-H. Su Y.-N. MENG-YAO LU SHIANN-TANG JOU Lin D.-T. Wang S.-C. Lin K.-S. |
公開日期: | 2006 | 卷: | 46 | 期: | 1 | 起(迄)頁: | 72-76 | 來源出版物: | Pediatric Blood and Cancer | 摘要: | Background. In Taiwan, the prevalence of β-thalassemia trait is at least 1.1%. The Taiwan government initiated a National Screening Program in 1993. Herein we examine the differences before and after the initiation of this program. Procedure. Data consisting of the total number of patients and the birth prevalence β-thalassemia major were collected. Ninety-one patients with transfusion-dependent thalassemia treated in our hospitals were included for analysts. DNA analysis was performed for 86 patients. Results. In Taiwan 361 patients exist. The birth prevalence of per 100,000 births was 5.6% in 1994 and declined to 1.21 in 2002. Fourteen patients were born after the program's initiation, DNA analysis of them revealed a new mutation (IVS-1-5 (G-C)), which was introduced through an interracial marriage. Otherwise, the remainder was the common β-thalassemia mutations found in Taiwan. Conclusions. Despite how successful the National Screening Program is, a few doctors still failed to detect parents at risk. In addition, we are concerned about the emerging problem of the increase of interracial marriages where parents may not have appropriate screening. Hence, postgraduate education programs for physicians, health education for the general population, and timely screening of inter-racial marriage should become a priority. ? 2005 Wiley-Liss, Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-28844436085&doi=10.1002%2fpbc.20343&partnerID=40&md5=63e1609a6be76212875bb895741a79ee https://scholars.lib.ntu.edu.tw/handle/123456789/526455 |
ISSN: | 1545-5009 | DOI: | 10.1002/pbc.20343 | SDG/關鍵字: | DNA; ferritin; genomic DNA; hemoglobin A2; hemoglobin E; hemoglobin F; iron; algorithm; amnion fluid; anemia; article; beta thalassemia; blood cell count; blood sampling; blood transfusion; child; chorion villus sampling; denaturing high performance liquid chromatography; diet supplementation; disease carrier; disease severity; DNA determination; ferritin blood level; fetus blood; gene mutation; health program; hematological parameters; human; major clinical study; mean corpuscular hemoglobin; mean corpuscular volume; polymerase chain reaction; pregnancy; prenatal diagnosis; prevalence; priority journal; protein electrophoresis; screening test; Taiwan; thalassemia major; beta-Thalassemia; Child; Child, Preschool; Female; Genetic Screening; Heterozygote Detection; Humans; Infant; Infant, Newborn; Mutation; National Health Programs; Pregnancy; Prenatal Diagnosis; Prevalence; Program Evaluation; Taiwan |
顯示於: | 醫學系 |
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