The Genotypes Research On ?-thalassimia In Zhanjiangn Area Guangdong Province

Objective:To analyze the genotypes of?-thalassemia in Zhanjiang.Methods:Patients at Zhanjiang Maternal and Child Health Care Centre,the Affiliated Hospital of Guangdong Medical University,Maternal and Child Health Hospital of Xiashan District and Zhanjiang Second People's Hospital from January 2017 to January 2018,were the cases in this study.The cases were analyzed by blood routine analysis,hemoglobin electrophoresis,gap-PCR,fluorescence quantitative PCR and DNA sequencing.The data were processed by SPSS 22.0 statistical software.Results:1.The genotypes of analysis:?1?586 cases were detected as?-thalassemia heterozygotes.Among 415 cases with?⁰-thalassemia,the genotypes included414 cases with--^SEA/??and 1 case with--^Thai/??.While in 171 cases with?⁺-thalassemia heterozygotes,their genotypes included 75 cases with-?^3.7/??,54cases with-?^4.2/??,26 cases with?^CS?/??,9 cases with?^WS?/??,and 7 cases with?^QS?/??.?2?83 cases were detected as Hb H disease.Their genotypes included 51 cases with--^SEA/-?^3.7,22 cases with--^SEA/-?^4.2,7 cases with--^SEA/?^CS?,2 cases with--^SEA/?^{Poly A}?and 1 case with--^SEA/?^QS?.?3?3 cases were detected as?⁺-thalassemia homozygotes,their genotypes were the same as-?^3.7/-?^3.7.?4?9 cases were detected as?⁺-thalassemia double heterozygotes,their genotypes included 4 cases with-?^3.7/?^CS?,1 case with-?^3.7/-?^4.2,1 case with-?^4.2/?^CS?,1 case with-?^4.2/?^QS?,1 case with-?^4.2/?^WS?and 1 case with?^CS?/?^WS?.?5?There were 16 cases compounded with?-thalassemia.The genotypes of?-thalassemia included?^CD41-42/?^N,?^-28/?^N,?^{IVS-II-654?C?T?}/?^N and?^CD17/?^N.2.The results of blood analysis showed that RBC 1.1⁷.7×10¹²/L,Hb15.0¹78.0g/L,MCV 5.9¹61.7fL,MCH 13.0¹22.6pg,MCHC 22.3³69.0g/L,RDW 11.9³9.0%.The results of comparison of blood analysis were as follows:?1?Among 5 groups,?⁰-thalassemia heterozygotes group,?⁺-thalassemia heterozygotes group,?⁺-thalassemia homozygotes and?⁺-thalassemia double heterozygotes group,Hb H disease group,and?-thalassemia compounded with?-thalassemia group,the values of Hb level,MCV and MCH value were the lowest in Hb H disease group,and RDW value was the highest in Hb H disease group.?2?MCV level in?^QS?/??genotype group was the lowest among non-deletional?⁺-thalassemia heterozygotes groups.?3?For the same?-thalassemia genotypes,MCV level in children anemia group was lower than those in adults anemia group.?4?Hb level in non-deletional Hb H disease was lower than those of deletional Hb H disease?P<0.05?.3.The results of Hb analysis were as follows:?1?The results of Hb analysis of?-thalassemia heterozygotes showed that Hb A₂ 0.0⁶.0%.?2?The results of Hb analysis of?⁺-thalassemia homozygotes showed that Hb A₂ 2.4².8%.?3?The results of Hb analysis of?⁺-thalassemia double heterozygotes showed that Hb A₂ 1.5².5%.?4?The results of Hb analysis of Hb H disease showed that Hb A₂ 0.5².3%,Hb H 0.5²3.2%.?5?Hb H level in non-deletional Hb H disease was higher than those in deletional Hb H disease?P<0.05?.Conclusion:1.Alpha-thalassemia in Zhanjiang area included 19 genotypes,such as--^SEA/??,--^Thai/??,-?^3.7/??,-?^4.2/??,?^CS?/??,?^WS?/??,?^QS?/??,-?^3.7/-?^3.7,-?^3.7/?^CS?,-?^3.7/-?^4.2,-?^4.2/?^CS?,-?^4.2/?^QS?,-?^4.2/?^WS?,?^CS?/?^WS?,--^SEA/-?^3.7,--^SEA/-?^4.2,--^SEA/?^CS?,--^SEA/?^{Poly A}?,--^SEA/?^QS?.The common?-thalassemia in Zhanjiang area was deletional type.The most common genotype of deletional?-thalassemia was--^SEA/??,followed by-?^3.7/??.The most common non-deletional?-thalassemia was?^CS?/??.The common Hb H disease was deletional Hb H disease,in which the genotype of--^SEA/-?^3.7 was the most common form.2.The values of Hb level,MCV and MCH value were the lowest in Hb H disease group.RDW value was the highest in Hb H disease group.MCV level in?^QS?/??genotype group was the lowest among non-deletional?⁺-thalassemia heterozygotes groups.For the same?-thalassemia genotypes,MCV level in children anemia group was lower than those in adults anemia group.Comparing to the deletional Hb H disease,the anemia was more severe in non-deletional Hb H group.3.Hb H level in non-deletional Hb H disease was higher than those in deletional Hb H disease.4.--^SEA/?^{Poly A}?genotype was first found in Guangdong province,which had intermediate anemia.Thailand deletional?-thalassemia was first reported in Zhanjiang area.