학술논문
Molecular Heterogeneity of β-Thalassemia Alleles in Spain and its Importance in the Diagnosis and Prevention of β-Thalassemia Major and Sickle Cell Disorders.
Document Type
Article
Source
Subject
*THALASSEMIA
*SICKLE cell anemia
*GENETIC mutation
*GENES
*GENETIC counseling
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Language
ISSN
0363-0269
Abstract
In the last 20 years, migratory flows have changed the pattern of β-thalassemia (β-thal) mutations in Catalonia and have also increased βS prevalence, either alone or in association with β-thal alleles. Characterization of the β gene is needed for genetic counseling for β-thal major and also for sickle cell diseases. The purpose of this study was to investigate the current distribution pattern of β-thal mutations. Seventy nine individuals were characterized at the molecular level. As a first step, frequent mutations in the Mediterranean region were screened and when none of these mutations were identified, the β-globin gene was sequenced. Screening for common mutations allowed the characterization of 60 individuals. In the remaining 19 cases, 11 different mutations were identified. β-Thalassemia heterogeneity in Spain has markedly increased, leading to the requirement of including new methods for genetic diagnosis. Prevention of β-thal major and sickle cell disease are necessary since their prevalence in Spain is increasing dramatically. [ABSTRACT FROM AUTHOR]