Allele Related Mutation Specific-Polymerase Chain
Reaction for Rapid Diagnosis of Hb New York (Beta 113
(G15) Vai->Giu, Bcd113 GIG->GAG)
VIP VIPRAKASIT, M.D.****, KALA YA TACHA V ANICH, M.Sc. **,
LERLUGSN SUWA NTOL, B.Sc. **, PARICHAT PUNG-AMRITT, B.Sc.**,
WORAW UT CHINCHANG, B.Sc.**, VORAVARN S. TANPHAICHITR,M.D.,M.S.**
Affiliation : * MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University
of Oxford, UK.
**Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
AbstractHemoglobin New York (beta 113 (015) Val~Glu), a ~-globin variant, was first reported
in a Chinese family living in New York. Subsequently, this abnormal hemoglobin was reported in
many Chinese descendants from several groups and it was also known as Hb Kaohsiung. The subtle
change in a1~1 contact region apart from the heme group connecting area by Val~Glu substitu
tion has minor changes in both the electrophoretic mobility and stability making this hemoglobin
variant difficult to distinguish from Hb A using routine hemoglobin analysis. The authors described
a case of heterozygosity of Hb New York diagnosed by a molecular technique and revealed a
mutation in ~co113 GIG-+GAG. A novel Allele Related Mutation Specific-Polymerase Chain Reaction
(ARMS-PCR) for rapid diagnosis of this mutation has been proposed.
Keywords : Hb New York, ~-Globin Variant, Hemoglobinopathy
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