title: [Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and β-thalassemia].
abstract: OBJECTIVE
  To analyze hematological characteristics of compound heterozygotes of Hb J-Bangkok and β-thalassemia, and to explore the influence of Hb J-Bangkok on the phenotype of β-thalassemia.
  
  
  METHODS
  Peripheral blood samples from a patient carrying Hb J-Bangkok and a β-thalassemia mutation, her family members and three sporadic Hb J-Bangkok carriers were collected. RBC analysis and hemoglobin electrophoresis were performed. Genotypes of α- and β-globin genes were analyzed.
  
  
  RESULTS
  The father of the proband and the three sporadic cases were single carriers of Hb J-Bangkok. All of them were asymptomatic and have normal hematological parameters except for an abnormal hemoglobin band detected on hemoglobin electrophoresis. The proband was a compound heterozygote for Hb J-Bangkok and β-thalassemia mutation IVS-Ⅱ-654. She presented typical β-thalassemia trait, featuring hypochromic microcytic anemia and increased Hb A₂ level. An abnormal hemoglobin band was also detected.
  
  
  CONCLUSIONS
  Carriers of Hb J-Bangkok alone are asymptomatic. Co-existence of Hb J-Bangkok and β-thalassemia may not aggravate the phenotype. Therefore, couples with one carrying Hb J-Bangkok and another carrying a β-thalassemia mutation do not require prenatal diagnosis.
authors.affiliation: Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.forename: Xuan
authors.initials: X
authors.lastname: Shang
authors.forename: Fu
authors.initials: F
authors.lastname: Xiong
authors.forename: Yan-hui
authors.initials: YH
authors.lastname: Liu
authors.forename: Ji-wu
authors.initials: JW
authors.lastname: Lou
authors.forename: Xiang-min
authors.initials: XM
authors.lastname: Xu
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006448:Hemoglobin J / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006448:Hemoglobin J; C029522:hemoglobin J Bangkok