Law H Y, Chee M K L, Tan G P, Ng I S L
Genetics Service, Department of Paediatric Medicine, KK Women's & Children's Hospital, 100 Bukit Timah Road, 229 899 Singapore.
Community Genet. 2003;6(1):14-21. doi: 10.1159/000069539.
To compare the efficacy of routine haematological tests and molecular analysis in the diagnosis of double heterozygous alpha- and beta-thalassaemia.
Screening was carried out in extended family members from 125 families registered in the National Thalassaemia Registry, known to have both alpha- and beta-thalassaemia carriers.
Eighty-three individuals from 59 families were identified to be double heterozygous for alpha- and beta-thalassaemia only upon molecular analyses. Among 40 married individuals, 1 was at 25% risk for having beta-thalassaemia major children and 6 for having Bart's hydrops pregnancies.
Molecular analysis must be used for the accurate diagnosis of double heterozygous alpha- and beta-thalassaemia for proper risk ascertainment, especially in regions with a high prevalence of both types of thalassaemia.
比较常规血液学检查和分子分析在诊断α和β地中海贫血双重杂合子中的疗效。
对国家地中海贫血登记处登记的125个家庭中的大家庭成员进行筛查，已知这些家庭既有α地中海贫血携带者，也有β地中海贫血携带者。
仅通过分子分析，59个家庭中的83人被确定为α和β地中海贫血双重杂合子。在40名已婚个体中，1人有25%的风险生育重型β地中海贫血患儿，6人有Bart水肿胎妊娠风险。
必须使用分子分析来准确诊断α和β地中海贫血双重杂合子，以便正确确定风险，尤其是在两种类型地中海贫血患病率都很高的地区。
