title: The Hb H disease genotypes in Southern China.
abstract: Abstract We report the genetic data of 435 patients with Hb H (β4) disease who presented at our center between 2005 and 2012. Our results showed that all patients had the Southeast Asian deletion (- -(SEA)) on one allele. The -α(3.7) (rightward) deletion was the most common on the other allele, followed by the -α(4.2) (leftward) deletion, Hb Constant Spring (Hb CS, α142, Term → Gln; HBA2: c.427T  > C) and Hb Quong Sze [Hb QS, α125(H8)Leu → Pro; HBA2: c.377T  > C] mutations. Two rare point mutations, α31(B12)Arg → Lys; HBA2: c.95G > A and Hb Zurich Albisrieden [α59(E8)Gly → Arg; HBA1: c.178G  > C], were also identified. Four patients had a concomitant β-thalassemia (β-thal) heterozygosity. Our results reflect the genetic heterogeneity of Hb H disease and the interaction between Hb H disease and β-thal trait in Southern China.
authors.affiliation: Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University , Guangzhou , People's Republic of China and.
authors.forename: Jianpei
authors.initials: J
authors.lastname: Fang
authors.forename: Luming
authors.initials: L
authors.lastname: Chen
authors.forename: Ruiping
authors.initials: R
authors.lastname: Zeng
authors.forename: Qiuhong
authors.initials: Q
authors.lastname: Tian
authors.forename: Weiying
authors.initials: W
authors.lastname: Jiang
authors.forename: Hongyi
authors.initials: H
authors.lastname: Li
authors.forename: Zheng
authors.initials: Z
authors.lastname: Chen
authors.forename: Chuanshu
authors.initials: C
authors.lastname: Du
authors.forename: Suqin
authors.initials: S
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006447:Hemoglobin H / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D055815:Young Adult; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006447:Hemoglobin H