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首页> 外文期刊>Translational research: the journal of laboratory and clinical medicine >Genetic origin and interaction of the Filipino β 0- thalassemia with Hb e and α-thalassemia in a Thai family
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Genetic origin and interaction of the Filipino β 0- thalassemia with Hb e and α-thalassemia in a Thai family

机译：泰国家庭中菲律宾β0-地中海贫血与Hb e和α-地中海贫血的遗传起源和相互作用

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摘要

We describe hematologic and molecular characteristics of a hitherto undescribed interaction between the Filipino deletional β 0- thalassemia with Hb E and α-thalassemia in a Thai family. This study was conducted during the prenatal screening of a pregnant Thai woman and her family members. A prenatal diagnosis was performed at her second pregnancy by amniocentesis. Laboratory investigations identified that the pregnant woman was Hb E heterozygote with α +-thalassemia, whereas her husband was a double heterozygote for the Filipino deletional β 0-thalassemia and α +-thalassemia. Their affected son was a patient with a previously undescribed condition of Hb E-β 0-thalassemia with α +-thalassemia. Both a combined gap-polymerase chain reaction (PCR) and allele-specific PCR were used successfully in the prenatal diagnosis, which identified an affected fetus with Hb E-β 0-thalassemia without α +-thalassemia. Beta globin gene haplotype analysis indicated the same origin of this Filipino β 0-thalassemia in Asian populations.
机译：我们描述了迄今为止尚未描述的在菲律宾家庭中的菲律宾删除性β0地中海贫血与Hb E和α地中海贫血之间相互作用的血液学和分子特征。这项研究是在泰国孕妇和她的家人进行产前检查时进行的。在她第二次怀孕时通过羊膜穿刺术进行了产前诊断。实验室调查发现，孕妇是带有α+地中海贫血的Hb E杂合子，而她的丈夫是菲律宾删除的β0地中海贫血和α+地中海贫血的双重杂合子。他们的患病儿子是以前没有描述过的HbE-β0地中海贫血合并α+地中海贫血的患者。结合间隙聚合酶链反应（PCR）和等位基因特异性PCR均已成功用于产前诊断，该诊断鉴定出患有HbE-β0地中海贫血而无α+地中海贫血的胎儿。 Beta珠蛋白基因单倍型分析表明该菲律宾人β0地中海贫血在亚洲人群中起源相同。

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