β0-地中海贫血与单功能α-球蛋白基因的杂合共遗传:地中海贫血婚前筛查中携带者检测的挑战

IF 0.6 Q4 HEMATOLOGY Thalassemia Reports Pub Date : 2022-08-29 DOI:10.3390/thalassrep12030015
H. Jalali, H. Karami, M. Mahdavi, M. Mahdavi
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引用次数: 1

摘要

本文报告了一对血液学指标异常的夫妇,他们被调查了α和β-地中海贫血突变。CBC和毛细管血红蛋白电泳结果显示,男性和女性分别为β和α-地中海贫血携带者。采用多重间隙pcr和Sanger测序技术鉴定α和β-珠蛋白基因突变。DNA检测显示,男性受试者β-珠蛋白基因存在C .315 + 1 G > A突变,女性患者α-珠蛋白存在- MED双基因缺失和C . 427t > C突变,有趣的是,她也是C .315 + 1 G > A突变的β-珠蛋白基因携带者。杂合型β0-地中海贫血与一个功能性α-珠蛋白基因共遗传的病例,其HbA2水平正常,可能导致其被误诊为β-地中海贫血携带者,特别是在婚前地中海贫血筛查项目中。因此,在婚前地中海贫血筛查中,特别是在β-珠蛋白突变频率高的地区,建议对Hb电泳正常、血液学指标降低的病例进行β-珠蛋白基因测序,以确定所有β-地中海贫血携带者。
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Co-Inheritance of Heterozygous β0-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia
This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers, respectively. Multiplex-Gap-PCR and Sanger sequencing techniques were used for the identification of mutations on α and β-globin genes. The DNA test showed the presence of c.315 + 1 G > A mutation on β-globin gene of male subject while the female case had – MED double gene deletion and c.427T > C mutation on α-globin and, interestingly, she was also a carrier for c.315 + 1 G > A mutation on β-globin gene. Cases with the coinheritance of heterozygous β0-thalassemia with one functional α-globin gene have normal HbA2 levels that may lead to their being misdiagnosed as β-thalassemia carriers, especially in premarital screening programs for thalassemia. Therefore, β-globin gene sequencing is recommended in cases with normal Hb electrophoresis and reduced hematological indices in premarital screening programs for thalassemia, especially in regions with a high frequency of β-globin mutations, in order to identify all the β-thalassemia carriers.
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来源期刊
Thalassemia Reports
Thalassemia Reports HEMATOLOGY-
自引率
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发文量
17
审稿时长
10 weeks
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