The Epidemiological Investigation Of β-thalassemia Deletions And Three Rare β-thalassemia In Yunnan Province

Objectives:To investigate the β-thalassemia deletions in Yunnan province and report rare thalassemia mutations which can establish the experimental basis for the molecular epidemiology.Methods:The levels of Hb F was detected by hemoglobin electrophoresis from the population(6 month-45 age)who are screened for hemoglobin electrophoresis in The First People’s Hospital of Yunnan Province and register the ethnic information and the native place information.Positive sample(Hb F>5%)will be detectde by MLPA and Gap-PCR for β-thalassemia deletions.Results:35086 people screened for hemoglobin electrophoresis,which of 14562 register the ethnic information:11269(77.39%)Han Nationality,1224(8.41%)Yi Nationality,552(3.79%)Bai Nationality,395(2.71%)Hui Nationality,other nationalities are 1095.35086 people screened for hemoglobin electrophoresis,which of 14703 register the native place information:5534(37.64%)Kunming,1997(13.58%)Qujing,1193(8.11%)Honghe,1072(7.29%)Chuxiong,951(6.47%)Zhaotong,831(5.65%)Dali,578(3.93%)Yuxi,468(3.18%)Lijiang,other regions are 2133.In a total of 35086 samples,150 positive samples(Hb F>5%)were detected(28 male and 122 female).This study has detected 8 carriers of large β-thalassemia deletions by MLPA among 150 positive samples,carrier rate is 0.023%(8/35086),positive rate is 5.33%(8/150).Among 8 carriers,there are 2 HPFH,2(δβ)0-thalassemia,3 Gy(Aγδβ)0-thalassemia and 1 εγδβ-thalassemia.There are 1 SEA-HPFH and 2 Chinese Gγ+(Aγδβ)0-halassemia detected by Gap-PCR.Conclusion:The β-thalassemia deletions has been analyzed from the population(6 month-45 age)who are screened for hemoglobin electrophoresis in The First People’s Hospital of Yunnan Province,which can reflect the prevalence ofβ-thalassemia deletions in Yunnan province.This study has detected 8 carriers of largeβ-thalassemia deletions by MLPA among 150 positive samples,it is low morbidity,8 carriers have anemia symptoms.Among 8 carriers,2 HPFH,2(δβ)0-thalassemia,3 Gγ(Aγδβ)0-thalassemia and 1 εγδβ-thalassemia which are reported for the first time in China,There are 1 SEA-HPFH and 2 Chinese Gγ+(γδβ)0-thalassemia detected by Gap-PCR.Objectives:To report 4 β-globin gene mutations and expand the clinical data ofβ-thalassemia.Methods:Common β-thalassemia mutations are not found from the 4 patients who are suspected to be β-thalassemia in The First People’s Hospital of Yunnan Province,the β-globin gene should be sequenced and detect the β-thalassemia mutations.Results:We find three mutations by sequencing the β-globin gene:(1)The number one patient was detected the mutation from G to A at the 70866th base,it is named Hb G-Copenhagen,CD 47(G>A)(HBB:c.142G>A)in HGVS.(2)The number two patient was detected the mutation from A to G at the 71957th base,it is named Hb Dieppe,CD 127(A>G)(HBB:c.383A>G)in HGVS and it is dominant mutation.(3)The number three patient was detected the mutation from T to C at the 70596th base,it is named Initiation CD(T>C)(HBB:c.2T>C)in HGVS.Conclusion:Common methods couldn’t detect β-thalassemia mutations for those individuals with Characteristics of thalassemia or abnormal hemoglobin variants,we sequence the β-globin gene and find three mutations:(1)Hb G-Copenhagen,CD 47(G>A)(HBB:c.142G>A)(2)Hb Dieppe,CD 127(A>G)(HBB:c.383A>G)(3)TInitiation CD(T>C)(HBB:c.2T>C).CD 127(A>G)(HBB:c.383A>G)was the third observation up to now worldwide,Initiation CD(T>C)(HBB:c.2T>C)was found in Hongkong,but never in mainland China.Hb G-Copenhagen,CD 47(G>A)(HBB:c.142G>A)are reported for the first time in mainland China.The three rareβ-globin mutations confirmed in this study have been described in populations of China.These results expand the heterogeneity in the mutational spectrum in Chinese population,which is helpful for the mutation screening program and prenatal diagnosis among people of Chinese ethnicity.