title: First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok.
abstract: The double heterozygosity for α and β chain variants leads to the formation of abnormal heterodimer hybrids, which could render laboratory diagnostics in a routine setting difficult. The following is the first report of a double heterozygosity for Hb Q-Thailand [α74(EF3)Asp→His; HBA1: c.223G>C] with α+-thalassemia (α+-thal) and Hb J-Bangkok [β56(D7)Gly→Asp; HBB: c.170G>A] found in a Chinese family. Both subjects were healthy with normal or borderline hematological parameters. Hemoglobin (Hb) analyses showed a novel variant, Hb Q-Thailand and Hb J-Bangkok. Family studies helped in the initial recognition and in making presumptive diagnoses, but definitive diagnoses of these cases with complex α and β chain variants could only be obtained after DNA analysis.
authors.affiliation: a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.|b Department of Obstetrics and Gynecology , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Fan
authors.initials: F
authors.lastname: Jiang
authors.affiliation: a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.|b Department of Obstetrics and Gynecology , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.affiliation: a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.|b Department of Obstetrics and Gynecology , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Jin-Mei
authors.initials: JM
authors.lastname: Yan
authors.affiliation: a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.|b Department of Obstetrics and Gynecology , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Yue-Cheng
authors.initials: YC
authors.lastname: Lu
authors.affiliation: a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.|b Department of Obstetrics and Gynecology , Guangzhou Women and Children Medical Center, Guangzhou Medical University , Guangzhou , Guangdong , People's Republic of China.
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006448:Hemoglobin J / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D010375:Pedigree; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins; C049214:hemoglobin Q Thailand; D006448:Hemoglobin J; C029522:hemoglobin J Bangkok
keywords: Capillary electrophoresis (CE); Hb J-Bangkok; Hb Q-Thailand; double heterozygous state