Hemoglobin J-Singapore [α79(EF8)Ala→Gly, GCG>GGG]
in a Pregnant Thai Woman
Sitthichai Panyasai PhD1, Nopphadol Permsripong BSc2, Sakorn Pornprasert PhD3
Affiliation :
1 School of Allied Health Sciences, University of Phayao, Phayao, Thailand
2 Department of Medical Technology, Uttaradit Hospital, Uttaradit, Thailand
3 Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand
Hemoglobin [Hb] J-Singapore [α79(EF8)Ala→Gly, GCG>GGG] is a very rare α-globin chain variant. In the present study, the
authors reported, for the (cid:976)irst time, the Hb J-Singapore in a 31-year-old Thai pregnant woman. She was seen by an obstetrician at
her (cid:976)ifteenth week of gestation. Based on routine antenatal thalassemia and hemoglobinopathy screening, her Hb analysis was
performed by high performance liquid chromatography [HPLC] and the abnormal Hb peak with a value of 23.6% was observed at
the retention time of 1.83 minutes. The abnormal Hb peak was also found at zone 12 of capillary electrophoresis [CE]
electrophoregram, which was similar to the peak of Hb Bart’s and Hb J-Buda. The direct DNA sequencing revealed the GCG>GGG
mutation at codon 79 of α2-globin gene as previously described for Hb J-Singapore. In addition, the developed multiplex allele
speci(cid:976)ic polymerase chain reaction [MAS-PCR] showed the 632 bp ampli(cid:976)ied fragment from Hb J-Singapore allele. Thus, the knowledge
and understanding of this hemoglobinopathy will be used to assist in diagnosis, management, and counseling for needed patients.
Keywords : J-Singapore, CE, Diagnosis, HPLC, Multiplex allele speci(cid:976)ic-PCR
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