Research from Chulalongkorn University, Department of Medicine provide new insights into thalassemia
2007 SEP 3 -- Investigators publish new data in the report "Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene." According to a study from Bangkok, Thailand, "Beta Thalassemia is a major public health concern in Southeast Asia. A prevention program has been implemented in Thailand comprising mass carrier screening and genetic testing." "In this study, a Thai girl with severe beta thalassemia/hemoglobin (Hb) E disease was born from the mother with Hb E trait and the genotypically normal father. DNA sequencing revealed novel 22-bp tandem duplication in the paternal allele of beta globin gene, producing a severely truncated product. A short recurring nucleotide at the insertion site suggested a predisposition to this mutation. Therefore, spontaneous beta globin mutations occasionally occur in normal population," wrote P. Rojnuckarin and colleagues, Chulalongkorn University, Department of Medicine. The researchers concluded: "Its clinical significance is noteworthy in countries with high prevalence of beta thalassemia." Rojnuckarin and colleagues published their study in American Journal of Hematology (Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene. American Journal of Hematology, 2007;82(7):663-5). For more information, contact P. Rojnuckarin, Faculty of Medicine, Dept. of Medicine, Chulalongkorn University, Bangkok, Thailand. Publisher contact information for the American Journal of Hematology is: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: Thailand, Bangkok, Beta-Thalassemia, Hematology, Thalassemia. This article was prepared by Hematology Week editors from staff and other reports. Copyright 2007, Hematology Week via NewsRx.com.
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