title: Hematological and Molecular Characterization of Hb J-Buda [α61(E10)Lys → Asn, AAG > AAT].
abstract: Hemoglobin (Hb) J-Buda [α61(E10)Lys → Asn, AAG > AAT] is a very rare α-chain variant found in South-East Asia. We analyzed hematological parameters and provided a rapid molecular analysis method for detection of this hemoglobinopathy in two Thai women who had severe microcytic anemia with Hb and MCV <70 g/L and 80 fL, respectively. The HPLC revealed an abnormal Hb peak eluted ahead of HbA at retention time of 1.91-1.98 min. On CE, the abnormal Hb peak was observed at the electrophoretic zone 12 which corresponded to Hb Bart's. The DNA sequencing revealed the AAG → AAT mutation at codon 61 for Hb J-Buda on one allele of the α1-globin gene. The developed Allele-specific PCR (ASPCR) showed the 455 bp amplified fragment from Hb J-Buda allele. Thus, understanding of hematological characterizations and the developed ASPCR for diagnosis of Hb J-Buda are essential for genetic counseling of this hemoglobinopathy.
authors.affiliation: School of Allied Health Sciences, University of Phayao, Phayao, Thailand.
authors.forename: Sitthichai
authors.initials: S
authors.lastname: Panyasai
authors.affiliation: Uttaradit Hospital, Uttaradit, Thailand.
authors.forename: Nopphadol
authors.initials: N
authors.lastname: Permsripong
authors.affiliation: Lamphun Hospital, Lamphun, Thailand.
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Jaiping
authors.affiliation: Lamphun Hospital, Lamphun, Thailand.
authors.forename: Pisuttinee
authors.initials: P
authors.lastname: Khantarag
authors.affiliation: Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, 110 Intawaroros Road, Chiang Mai, 50200 Thailand.
authors.forename: Sakorn
authors.initials: S
authors.lastname: Pornprasert
keywords: Hb J-Buda; Hematological parameters; Hemoglobin analysis; Hemoglobinopathy; Thai female