title: [Genotypes and clinical features of 595 children with HbH disease in Guangxi, China].
abstract: OBJECTIVE
  To investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China.
  
  
  METHODS
  A total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the three α-globin gene deletion mutations (--(SEA), -α(3.7), and -α(4.2)) and three non-deletion mutations (Hb Westmead, Hb Constant Spring, and Hb Quong Sze) which are common in the Chinese population.
  
  
  RESULTS
  Among the 595 cases, five common genotypes were identified, which were --(SEA)/-α(3.7) (232 cases), --(SEA)/α(CS)α (174 cases), --(SEA)/-α(4.2) (122 cases), --(SEA)/α(WS)α (35 cases), and --(SEA)/α(QS)α (24 cases). The genotype of THAI deletion associated with α-thalassemia-2 was detected in eight cases. Six β-mutations including CD41-42, CD17-28, CD26, IVS-II-654, IVS-I-1, and CD27-28 were identified in 23 cases. All children with HbH disease had microcytic hypochromic anemia; children with HbH-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia.
  
  
  CONCLUSIONS
  Deletional HbH disease is the main type in children with HbH disease in Guangxi, and some patients also have mild beta-thalassemia. Non-deletional HbH disease shows more severe phenotype than deletional HbH disease.
authors.affiliation: Department of Genetic Metabolism, Maternal and Children Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China. piger561220881@163.com.
authors.forename: Sheng
authors.initials: S
authors.lastname: He
authors.forename: Qiang
authors.initials: Q
authors.lastname: Zhang
authors.forename: Bi-Yan
authors.initials: BY
authors.lastname: Chen
authors.forename: Peng
authors.initials: P
authors.lastname: Huang
authors.forename: Yan-Qing
authors.initials: YQ
authors.lastname: Tang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wei
authors.forename: Qiu-Li
authors.initials: QL
authors.lastname: Chen
authors.forename: Chen-Guang
authors.initials: CG
authors.lastname: Zheng
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006447:Hemoglobin H