Genetic origin and interaction of the Filipino ¦Â⁰-thalassemia with Hb E and ¦Á-thalassemia in a Thai family

详细信息    查看全文

• 作者：Supawadee Yamsri ; Kanokwan Sanchaisuriya ; Goonnapa Fucharoen ; Supan Fucharoen ; ^{supan@kku.ac.th}
• 关键词：Hb ; hemoglobin ; PCR ; polymerase chain reaction
• 刊名：Translational Research
• 出版年：2012
• 出版时间：June, 2012
• 年：2012
• 卷：159
• 期：6
• 页码：473-476
• 全文大小：195 K

文摘

We describe hematologic and molecular characteristics of a hitherto undescribed interaction between the Filipino deletional ¦Â⁰-thalassemia with Hb E and ¦Á-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 ¦Á⁺-thalassemia, whereas her husband was a double heterozygote for the Filipino deletional ¦Â⁰-thalassemia and ¦Á⁺-thalassemia. Their affected son was a patient with a previously undescribed condition of Hb E-¦Â⁰-thalassemia with ¦Á⁺-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-¦Â⁰-thalassemia without ¦Á⁺-thalassemia. Beta globin gene haplotype analysis indicated the same origin of this Filipino ¦Â⁰-thalassemia in Asian populations.