Interaction of the alpha2 polyadenylation signal mutation (AATAAA-->AATA--) and alpha0-thalassemia (--SEA), resulting in Hb H disease in a Thai patient. |
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Authors: | V Laosombat S Fucharoen A Wiriyasateinkul |
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Affiliation: | Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand. lvichai@ratree.psu.ac.th |
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Abstract: | 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. |
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