title: Coinheritance of Hb S [β6(A3)Glu→Val, GAG>GTG] with β0-thalassemia codon 17 (A>T) in a Thai patient.
abstract: Hb S [β6(A3)Glu→Val, GAG>GTG] is a β-globin gene variant that has a very low incidence in the Thai population. Coinheritance of Hb S and β(0)-thalassemia (β-thal) can result in severe clinical conditions. This study reports the case of a Thai patient with a compound heterozygosity for Hb S and β(0)-thal codon 17 (A>T). His hemoglobin (Hb), hematocrit (packed cell volume, PCV), mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) levels were all less than the lower limits, while red cell distribution width (RDW) was higher than the upper limit. Levels of Hbs S, F and A(2) detected by high performance liquid chromatography (HPLC) were comparable to those from capillary electrophoresis (CE). As Hb S has a similar electrophoretic mobility and the HPLC profile is also similar to those of Hb Tak [β147, Term→Thr (+AC)] and Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA], DNA sequencing was then performed. This was to detect β(0)-thal, and to differentiate Hb S from the Hb Tak and Hb D-Punjab mutations. The β(0)-thal codon 17 and Hb S mutations were detected indicating that coinheritance of these two mutations can be found in the Thai population. Therefore, to provide proper clinical management and genetic counseling of this rare case, DNA analysis should be performed in all cases when a peak at the S-window is detected by HPLC or CE.
authors.affiliation: Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang-Mai University, 110 Intawaroros Road, Chiang-Mai, Thailand. sakornmi001@gmail.com
authors.forename: Sakorn
authors.initials: S
authors.lastname: Pornprasert
authors.forename: Sitthichai
authors.initials: S
authors.lastname: Panyasai
authors.forename: Kanyakan
authors.initials: K
authors.lastname: Kongthai
authors.forename: Kallayanee
authors.initials: K
authors.lastname: Treesuwan
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D013785:Thailand; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D006451:Hemoglobin, Sickle; D055544:beta-Globins