title: Study on molecular epidemiology of the alpha-thalassemias in Liuzhou City, Guangxi Autonomous Region, China.
abstract: Guangxi is one of the provinces of Southern China with the highest incidence of alpha-thalassemia (thal). Liuzhou is the second biggest city in Guangxi. To find out the incidence of the various alpha-thal genotypes, and their distribution in the Liuzhou area, an F820 Blood Cell Analysis System was used to measure the parameters of red blood cells. A SPIFE Rapid Auto-Electrophoresis System was used to analyze the normal and abnormal hemoglobins (Hbs). Multiplex polymerase chain reaction (mPCR) was used to detect the alpha-globin genotypes. Thirty-two (2.05%) out of 7805 young couples undergoing pre-marriage counseling, were diagnosed as having an Hb H (beta4) disease. The study of 1228 cord blood samples revealed 138 newborn children carrying an alpha-thal determinant with nine different genotypes, thus making the total incidence of alpha-thal 11.24%. Among 185 cases of Hb H, 119 (64.1%) were confirmed as being deletional, and 66 cases (35.7%) nondeletional types. The severity of the Hb H diseases could be classified in the following order: alphaCSalpha/--SEA (alphaConstant (Spring)alpha/--Southeast Asia); alpha(-4.2)/--SEA; alpha(-3.7)/--SEA. Ten cases of alpha-thal determinants were found in combination with beta-thal. The mPCR technique can detect all kinds of combinations of the three common large deletions (--SEA, alpha(-4.2) and alpha(-3.7)) accurately and conveniently.
authors.affiliation: Women and Children's Hospital, Liuzhou City, GuangXi, China.
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.forename: Jingzhong
authors.initials: J
authors.lastname: Liu
authors.forename: Lirong
authors.initials: L
authors.lastname: Wang
authors.forename: Xin
authors.initials: X
authors.lastname: Liang
authors.forename: Bai
authors.initials: B
authors.lastname: Xiao
authors.forename: Liu
authors.initials: L
authors.lastname: Su
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhou
authors.forename: Lizhen
authors.initials: L
authors.lastname: Pan
mesh_terms: D002681:China; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D017720:Molecular Epidemiology / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins