First Report of Hb A₂-NYU (HBD:c.39T>A) in the Hellenic Population

Marianthi Georgitsi University of Patras, School of Health Sciences, Department of Pharmacy, Patras, Greece

Adamantia Papachatzopoulou University of Patras, School of Health Sciences, Faculty of Medicine, Laboratory of General Biology, Patras, Greece

Emmanouella Linardaki DNA Analysis Molecular Biology and Genetics Research Laboratory, Heraklion, Greece

Vassilis Maroulis Laikon General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece

Manoussos N. Papadakis Laikon General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece

George P. Patrinos University of Patras, School of Health Sciences, Department of Pharmacy, Patras, GreeceCorrespondence[email protected]

Abstract

We report the first heterozygous case of Hb A₂-NYU (HBD:c.39T>A) in the Hellenic population. The proband, an adult female from the island of Crete, Greece, was identified during routine family screening. DEAE chromatography of the index case revealed a minor hemoglobin (Hb) fraction preceding the elution of the wild-type Hb A₂. DNA sequencing of the entire HBD gene coding regions indicated that the index case was heterozygous for the rare variant Hb A₂-NYU. Family studies indicated that this Hb variant was inherited from the mother. This finding underlines the vast genetic heterogeneity of the HBD gene in the Hellenic population.

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First Report of Hb A₂-NYU (HBD:c.39T>A) in the Hellenic Population

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First Report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic Population

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First Report of Hb A₂-NYU (HBD:c.39T>A) in the Hellenic Population