Genetic origin and interaction of the Filipino β0-thalassemia with Hb E and α-thalassemia in a Thai family

We describe hematologic and molecular characteristics of a hitherto undescribed interaction between the Filipino deletional beta(0)-thalassemia with Hb E and alpha-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 alpha(+)-thalassemia, whereas her husband was a double heterozygote for the Filipino deletional beta(0)-thalassemia and alpha(+)-thalassemia. Their affected son was a patient with a previously undescribed condition of Hb E-beta(0)-thalassemia with alpha(+)-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-beta(0)-thalassemia without alpha(+)-thalassemia. Beta globin gene haplotype analysis indicated the same origin of this Filipino beta(0)-thalassemia in Asian populations. (Translational Research 2012;159:473-476)