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Updated: Apr 6, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family

Georgi Petkov1, Marija Dimishkovska2, Vanya Tsoneva Ivanova3

  • 1a University Children's Clinic, Faculty of Medicine, Trakia University , Stara Zagora , Bulgaria.

Hemoglobin
|July 28, 2015
PubMed

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 first family from Bulgaria with Hb G-Waimanalo [A1].

Keywords:
Hb BurgosHb G-WaimanaloHb Wädenswilhemoglobin (Hb) variant

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