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

Abstract

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.