Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Transl Res. 2012 Jun;159(6):473-6. doi: 10.1016/j.trsl.2011.10.008. Epub 2011 Nov 17.
We describe hematologic and molecular characteristics of a hitherto undescribed interaction between the Filipino deletional β⁰-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 β⁰-thalassemia and α⁺-thalassemia. Their affected son was a patient with a previously undescribed condition of Hb E-β⁰-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-β⁰-thalassemia without α⁺-thalassemia. Beta globin gene haplotype analysis indicated the same origin of this Filipino β⁰-thalassemia in Asian populations.
我们描述了一个在泰国家庭中尚未描述的菲律宾缺失型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。这项研究是在一名泰国孕妇及其家庭成员的产前筛查期间进行的。通过羊膜穿刺术对她的第二次妊娠进行了产前诊断。实验室研究确定该孕妇是 Hb E 杂合子伴α⁺-地中海贫血，而她的丈夫则是菲律宾缺失型β⁰-地中海贫血和α⁺-地中海贫血的双重杂合子。他们受影响的儿子患有以前未描述的 Hb E-β⁰-地中海贫血伴α⁺-地中海贫血。联合 gap-聚合酶链反应 (PCR) 和等位基因特异性 PCR 成功应用于产前诊断，鉴定出一个受影响的胎儿具有 Hb E-β⁰-地中海贫血而没有α⁺-地中海贫血。β珠蛋白基因单倍型分析表明，这种来自亚洲人群的菲律宾β⁰-地中海贫血具有相同的起源。
