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Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 1
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Short Communication

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]
Pages 91-95 | Received 23 Jul 2010, Accepted 12 Oct 2010, Published online: 20 Jan 2011
 
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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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