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- W2376916882 abstract "Objective:To discuss characteristics between composite genotype thalassaemia and clinical phenotype.Individuals with composite genotype thalassaemia were refered to as having defective α gene and mutated β gene.Method:Complete blood analysis、hemoglobinelectrophoresis and Gap-PCR were used to test fifteen confirmed diagnosis thalassemia patients,which were composite genotype thalassaemia.We used Gap-PCR mainly to detect three common defective αgene and seventeen common mutated β gene.Result:Three common defective α gene and four common mutated β gene were detected among fifteen composite genotype thalassaemia patients,respectively,-SEA(66.7%),-а3.7(26.7%),-а4.2(6.6%),CD41-42(42.1%),IVS-2-654(31.6%),CD17(15.8%),β-28(10.5%).These genes combine nine type different composited genotypes,including 11 mild clinical manifestation and 4 severe clinical manifestation.Anemia symptoms with most mild patiens were range from no to minor,meanwhile severe patients were moderate anaemia.All of composite genotype thalassaemia patients were microcytichypochromicanemia.There were no statistically signigicants of red blood cell、mean corpuscular volume、mean corpuscular hemoglobin、mean corpuscular hemoglobin concentration between mild and severe patients(P0.05).Haemoglobin were lower(P0.05),red cell distribution width and HbF were higher(P0.05) in severe patients,meanwhile,HbA2 were no differences in mild and severe patients(P0.05).Conclusion:There were differences clinical characteristics between mild and severe patients,which were depend on genotype.To set up thalassemia genotype network archive could help instruct thalassemia patients in health care,treatment,marriage and breeding." @default.
- W2376916882 created "2016-06-24" @default.
- W2376916882 creator A5026696333 @default.
- W2376916882 date "2012-01-01" @default.
- W2376916882 modified "2023-09-23" @default.
- W2376916882 title "To study characteristics between composite genotype of thalassaemia and clinical phenotype in foshan district" @default.
- W2376916882 hasPublicationYear "2012" @default.
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