Title: Investigation of genotype of thalassemia and hemoglobin variants in Dongguan city
Abstract: Objective To investigate the genotype of thalassemia and hemoglobin variants in Dongguan,in order to provide the hemoglobin molecule disease epidemiology and prevent the birthrates of severe thalassemia.Methods The red blood cell indices analysis,hemoglobin electrophoresis and ferritin were carried out on all of 3 907 samples of renous blood.Gap-PCR and RDB method were used for detecting α-thalassemia genotyping and β-thalassemia genotyping.Results 328 cases were with α-thalassemia(8.76%),116 cases were negative by Gap-PCR.Among them,107 cases prompted low ferritin;316 cases were with β-thalassemia(8.09%),TATA box-28(A→G),CD17(A→T),CD41-42(-TCTT) were the major genetypes of β-thalassemia in this area.The rare genotype CD14/15(+ G) was also checked out.There were double heterozygous 17/βE in 1 case,IVS-Ⅱ-654/CD41-42 in 2 cases and—SEA/IVS-Ⅱ-654 in 1 case.There were 40 cases of abnormal hemoglobin,a total of 5 categories,namely HbE,HbG,HbK,HbD and HbJ,while at the same time HbG composite α-thalassemia were checked out in 5 cases,HbJ composite α-thalassemia in 2 cases.Conclusion The high incidence of thalassemia is discovered in Dongguan City,α-thalassemia gene carrier rate and β-thalassemia gene carrier rate are equivalent,β-thalassemia gene carrier rate is higher than that in other areas of Guangdong province.The population structure of Dongguan city is complex,and also more common abnormal hemoglobin diseases have been discovered in this area,so doing the hemoglobin molecule disease screening work has important significance.
Publication Year: 2011
Publication Date: 2011-01-01
Language: en
Type: article
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