Authors: Sitthichai Panyasai Nopphadol Permsripong Kanokwan Jaiping Pisuttinee Khantarag Sakorn Pornprasert
Publish Date: 2016/01/23
Volume: 32, Issue: 1, Pages: 311-314
Abstract
Hemoglobin Hb JBuda α61E10Lys → Asn AAG AAT is a very rare αchain variant found in SouthEast 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 191–198 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 JBuda on one allele of the α1globin gene The developed Allelespecific PCR ASPCR showed the 455 bp amplified fragment from Hb JBuda allele Thus understanding of hematological characterizations and the developed ASPCR for diagnosis of Hb JBuda are essential for genetic counseling of this hemoglobinopathyThe authors thank technicians at the Associated Medical Sciences Clinical Service Center Associated Medical Sciences Chiang Mai University Chiang Mai Thailand and the department of Medical Technology Uttaradit hospital Uttaradit Thailand for their help and assistance We are also grateful to Roscoe C Butler Jr and Kallayanee Rock for refinement of English language This work was supported by a grant from University of Phayao Phayao Thailand
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