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为了解广东地区血红蛋白Ｈ病基因型的分布特点及各基因型频率，对广东地区１０５例血红蛋白Ｈ（ＨｂＨ）病患者采用α珠蛋白基因探针－限制性内切酶谱直接分析法，进行了基因型分析，检出非缺失型ＨｂＨ病１４例（１３．３％）；缺失型ＨｂＨ病９１例（８６．７％）．其中右缺失型５９例，占缺失型ＨｂＨ６４．８％；左缺失型３２型，占３５．２％。对１７例ＨｂＨ病高危胎儿进行了产前基因诊断，结果有５例为α地贫２杂合子，３例ＨｂＨ病，５例α地贫１杂合于或正常，１例ＨｂＢａｒｔ＇ｓ水肿胎，其余３例由于双亲一方为非缺失型α地贫，故对胎儿的基因型不能作出准确判断。还对缺失型和非缺失型ＨｂＨ病的血红蛋白和血红蛋白Ｈ的相对含量进行了比较，结果显示非缺失型ＨｂＨ病的血红蛋白含量显著低于缺失型ＨｂＨ病（Ｐ＜０．００１），而血红蛋白Ｈ相对含量则显著高于缺失型ＨｂＨ病（Ｐ＜０．００５）．为高危胎儿的产前诊断提供了依据。
In order to understand the distribution of Hb genotypes and the frequency of each genotype in Guangdong, we conducted a direct analysis of α-globin gene probe-restriction endonuclease profiling in 105 cases of hemoglobin H (HbH) patients in Guangdong In genotype analysis, 14 (13.3%) cases of non-deletional HbH disease and 91 (86.7%) cases of deletional HbH disease were detected. Among them, 59 cases were right deletion type, accounting for 64.8% of HbH deletion type; 32 cases left deletion type, accounting for 35.2%. Prenatal genetic diagnosis was performed on 17 fetuses with HbH disease. Among them, 5 were a-thalassemia heterozygote, 3 were HbH disease, 5 were α-thalassemia heterozygote or normal, and 1 was HbBart’s hydrops , The remaining three cases because of one of the parents of non-deletion type α thalassemia, so the genotype of the fetus can not make accurate judgments. The relative amounts of hemoglobin and hemoglobin H in missing and non-deletion HbH disease were also compared and the results showed that hemoglobin content was significantly lower in non-deletional HbH disease than in deletional HbH disease (P <0.001), whereas hemoglobin H The relative content was significantly higher than that of deletional HbH (P <0.005). Provided the basis for prenatal diagnosis of high-risk fetus.