The Epidemiological Investigation Of ?-thalassemia In Yunnan Province And Study Of Microcytic Hypochromic Anemia In The Population Of Lincang

Objectives:To investigate the gene mutation frequency and spectrum of?-thalassemia in Yunnan province which can provide reference basis for the prevalence and molecular analysis of thalassemia in Yunnan province.Methods:The levels of Hb A2 was detected by hemoglobin electrophoresis from the population of reproductive age(18-45 age)in Yunnan province,southwest of China.Positive sample(Hb A2 levels?2%)was sequenced for ?-thalassemia.Results:In a total of 18181 samples,positive sample(Hb A2 levels?2%)were detected in 164 samples.85 cases of the 164 cases were confirmed for S-thalassemia gene mutation,and the positive frequency was 51.83%(85/164).The ?-thalassemia frequency was 0.468%(85/18181),and one case was Hb A2 variant.The frequency of-77(T>C)was 91.76%(78/85),with a Hb A2 values 1.4±0.1%,-30(T>C)was 2.35%(2/85),with a Hb A2 values l.4±0.1%,? initiation codon(ATG>ATA?HBD c.3G>A)was 1.18%,with a Hb A2 values 1.2%,Condon 10(-G)(HBD c.31delG)was 1.18%(1/85),with a Hb A2 values 1.4%,HbA2-Huadu[842(CD1)Phe?Leu(TTT>CTT(HBD c.127T>C)]was 1.18%(1/85),with a Hb A2 values 1.2%,Hb A2-Coburg[?116(G18)Arg?His,CGT>CAT]was 1.18%(1/85),with a Hb A2 values 1.4%,HbA2-Liangcheng(HBDc.352A>G)was 1.18%(1/85),with a Hb A2 values 1.7%and Hb A2 variant values 1.1%.Conclusion:The frequency of 8-thalassemia was 0.486%(85/18181)in Yunnan province.85 cases of the 164 cases were positive for a ?-thalassemia gene defect,and the positive frequency was 51.83%(85/164).The common mutation were-77(T>C),-30(T>C),5 initiation codon(ATG>ATA,HBD c.3G>A),Condon 10(-G)(HBD c.31de1G),HbA2-Huadu[842(CD1)Phe?Leu(TTT>CTT(HBD c.127T>C)],A2-Coburg[?116(G18)Arg?His,CGT>CAT],HbA2-Liangcheng(HBDc.352A>G)in Yunnan province.-77(T>C)was the most common mutation in Yunnan province followed by-30(T>C).This study will provides a clue for gene therapy and prevention of thalassemia.Objectives:To investigate the microcytosis and hypochromia frequency in the adults and children of lincang in Yunnan province.Methods:the Full Blood Count of Adults and children' was analysed.The positive screening standards were MCV<80fl and/or MCH<27pg,the microcytosis and hypochromia frequency was analysed in adults and children population.Results:In adults,the frequency of positive screening microcytic hypochromic anemia was 9.62%(352/3658),including 110 male(5.80%)and 242 female(13.73%).It was found that 158 boys(51.13%)and 92 girls(43.19%)were microcytic hypochromic anemia,the positive frequency was 47.89%(250/522).Conclusion:The microcytic hypochromic anemia was a caogethic healthy targets in adults and children in Lincang.It is necessary to investigate the clinical epidemiology and the mechanism of microcytic hypochromic anemia.