Interaction of the alpha2 polyadenylation signal mutation (AATAAA-->AATA--) and alpha0-thalassemia (--SEA), resulting in Hb H disease in a Thai patient.
We report a Thai boy with a compound heterozygosity for the alpha2 polyadenylation signal mutation (AATAAA-->AATA--) and alpha0-thalassemia (--SEA), who suffered from Hb H disease with more severe clinical symptoms than those usually observed with deletional Hb H disease. His Hb H level was as high as 52% of total hemoglobin. The hematologic data of this unusual case of Hb H disease was compared with those of Hb H disease with a homozygosity for the alpha2 polyadenylation signal mutation, and compound heterozygosity of the alpha2 polyadenylation signal mutation and alpha0-thalassemia. A simple DNA assay based on an allele specific polymerase chain reaction for the detection of this polyadenylation signal mutation is described.
Laosombat
V
V
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand. lvichai@ratree.psu.ac.th
Fucharoen
S
S
Wiriyasateinkul
A
A
D002675:Child, Preschool; D006447:Hemoglobin H / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D026723:Polyadenylation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013785:Thailand / Q000208:ethnology; D017085:alpha-Thalassemia / Q000235:genetics*
D006447:Hemoglobin H