Article
Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family.
Hemoglobin - 1 Jan 2015
Petkov Georgi, Dimishkovska Marija, Tsoneva Ivanova Vanya, Yordanov Georgi, Zdraveski Alexandar, Plaseska-Karanfilska Dijana
Abstract excerpt
The abnormal hemoglobin (Hb) with an aspartic acid to asparagine substitution at α64 has been found on both the α2- and α1-globin genes. It has been described in many different populations under different names, but never in Bulgaria. Using the recently proposed nomenclature, Hb G-Waimanalo [A1] refers to the HBA1: c.193G > A, while Hb G-Waimanalo [A2] refers to the HBA2: c.193G > A mutation. Here, we present the...
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