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Thalassemic syndrome, Newborn screening, Prevention and control program
Background: To provide accurate prevalence information of thalassemia in northeast Thailand after 20 years implementation of a prevention and control program, thalassemia screening was carried out in newborns.
Methods: Study was done on 350 cord blood specimens collected consecutively at Maternal and Child Hospital, Regional Health Promotion Center 7, Khon Kaen, Thailand. All kinds of a- and ?-thalassemias were identified using combined hemoglobin (Hb) and DNA analyses.
Results: Among 350 newborns examined, subjects with thalassemia genes were identified in 184 (52.6%) cases with as many as 22 different genotypes. The most prevalent one was Hb E (39.1%). The incidence of 3.1% a0-thalassemia, 25.9% a+-thalassemia, 5.4% Hb Constant Spring and 1.4% of Hb Paksé were encountered. Heterozygous ?-thalassemia was found in 2 cases (0.6%). Hb capillary electrophoresis could demonstrate Hb E in all cases with Hb E and detected different levels of Hb Bart’s for different a-thalassemia genotypes but not in all cases with a-thalassemia. No newborn with severe thalassemia diseases was encountered.Conclusion: This study reveals that a-thalassemia, ?-thalassemia and Hb E carriers as well as complex thalassemia syndromes are still prevalence and indicates a need for continuing a prevention and control program in the region.