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 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.
Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Supawadee
S
Yamsri
Kanokwan
K
Sanchaisuriya
Goonnapa
G
Fucharoen
Supan
S
Fucharoen
D044466:Asian People / Q000235:genetics; D002648:Child; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing; D006239:Haplotypes; D006446:Hemoglobin E / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010679:Philippines / Q000208:ethnology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013785:Thailand; D057170:Translational Research, Biomedical; D017085:alpha-Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics*
D055544:beta-Globins; D006446:Hemoglobin E