title: Thalassemia intermedia associated with complex interaction of Hb Beijing [alpha16(A14)Lys-->Asn] and Hb E [beta26(B8)Glu-->Lys] with a deletional alpha-thalassemia-1 in a Thai family.
abstract: A Thai family with a complex thalassemia syndrome caused by alpha- and beta-globin defects is described. The proband was a 14-year-old boy who had chronic hypochromic microcytic anemia. Hemoglobin (Hb) and DNA analyses demonstrated that he carried Hb Beijing [alpha16(A14)Lys-->Asn], Hb E [beta26(B8)Glu-->Lys] and alpha-thalassemia-1 (alpha-thal-1). Interaction of the alphaBeijing with the betaE globin chains in the proband leads to a new Hb variant, namely Hb E Beijing with different characteristics to both Hb E and Hb Beijing. Family studies showed that his father carried Hb Beijing and Hb E, whereas his mother was a simple alpha-thal-1 carrier. The genotype-phenotype relationship observed in this Thai family with complex hemoglobinopathies is presented and a simple DNA assay based on allele specific polymerase chain reaction (ASPCR) for detection of Hb Beijing is described.
authors.affiliation: Department of Clinical Chemistry, Khon Kaen University, Khon Kaen, Thailand. supan@kku.ac.th
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
authors.forename: Sunisa
authors.initials: S
authors.lastname: Chunpanich
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Sanchaisuriya
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.forename: Naowarat
authors.initials: N
authors.lastname: Kunyanone
mesh_terms: D000293:Adolescent; D005190:Family; D005260:Female; D017353:Gene Deletion; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D013785:Thailand; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C037202:hemoglobin Beijing; D006446:Hemoglobin E