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Original ArticleOpen Access
Allele Related Mutation Specific-Polymerase Chain Reaction for Rapid Diagnosis of Hb New York (Beta 113 (G15) Vai-+Giu, pcnm GI~AG)
Hemoglobin 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
a
1~
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.
Key word : Hb New York,
~-Globin
Variant, Hemoglobinopathy
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
a
1~
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.
Key word : Hb New York,
~-Globin
Variant, Hemoglobinopathy
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