Current situation and prospect of hematological phenotypic screening and genotyping of thalassemia
10.3760/cma.j.issn.1009-9158.2012.05.003
- VernacularTitle:地中海贫血表型筛查和基因诊断的现状及展望
- Author:
Yuqiu ZHOU
- Publication Type:Journal Article
- Keywords:
Thalassemia;
Hematological Phenotype;
Genetic Screening;
Genotyping
- From:
Chinese Journal of Laboratory Medicine
2012;35(5):394-398
- CountryChina
- Language:Chinese
-
Abstract:
Thalassemias are among the commonest monogenic disorders in human,including α-and β-two primary types.The birth of fetuses with severe thalassemia has been an important public health problem.It is proved to be highly effective in reducing dramatically severe thalassemia that by the large-scale population based carrier (heterozygote) screening for thalassemias and by the prenatal diagnosis aimed at the couples at risk for severe thalassemia.These heterozygotes of thalassemias can be detected by hematological phenotypic examination ( RBC indices in conjunction with measurement of Hb A2 level) and by DNA analysis when necessity.Full blood count ( FBC ) and HPLC or suitable alternative technique such as capillary electrophoresis(CE) has become the main technical means of hematological phenotypes and the first line clinical technique screening for thalassemias.Gap-PCR and reverse dot blot (RDB) detecting deletional and non-deletional ( point mutations) thalassemias respectively have been most universal genotyping methods in clinical appliance at home and abroad.Moreover,real-time fluorescent PCR- and gene chip-based etc used for molecular diagnosis of this disease will have tremendous application prospect.
