Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant

We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A 1c testing on a 65-year-old female of Cypriot origin. The band,...

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Bibliographic Details
Published inHemoglobin Vol. 40; no. 5; pp. 345 - 348
Main Authors Kelany, Mai, Pickersgill, John S., Al Hasso, Namir, Viljoen, Adie, van Bijlen, Nancy, Besser, Martin W.
Format Journal Article
LanguageEnglish
Published England Taylor & Francis 02.09.2016
Subjects
Aged
alpha-Globins - genetics
Amino Acid Substitution
capillary zone electrophoresis
Chromatography, High Pressure Liquid
Codon
Female
Glycated Hemoglobin A - analysis
Hb A
Hb Kalavasos
hemoglobin (Hb) variant
Hemoglobins, Abnormal - genetics
high performance liquid chromatography
Humans
α Hemoglobin chain
α Hemoglobin chain
Hb Kalavasos
capillary zone electrophoresis
hemoglobin (Hb) variant
high performance liquid chromatography
Hb A1c
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Summary:We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A 1c testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband.
Bibliography:ObjectType-Case Study-2
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ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2016.1209214