First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population.
We report the first heterozygous case of Hb A(2)-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 A(2). DNA sequencing of the entire HBD gene coding regions indicated that the index case was heterozygous for the rare variant Hb A(2)-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.
University of Patras, School of Health Sciences, Department of Pharmacy, Patras, Greece.
Marianthi
M
Georgitsi
Adamantia
A
Papachatzopoulou
Emmanouella
E
Linardaki
Vassilis
V
Maroulis
Manoussos N
MN
Papadakis
George P
GP
Patrinos
D000328:Adult; D001483:Base Sequence; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006115:Greece; D006239:Haplotypes; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic
D006455:Hemoglobins, Abnormal; D005914:Globins; D006443:Hemoglobin A2; C039470:hemoglobin NYU