Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family

Georgi PetkovUniversity Children’s Clinic, Faculty of Medicine, Trakia University, Stara Zagora, Bulgaria

Marija DimishkovskaResearch Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia

Vanya Tsoneva IvanovaCentral Clinical Laboratory, Faculty of Medicine, Trakia University, Stara Zagora, Bulgaria

Georgi YordanovDepartment of Ophthalmology and General Medicine, Faculty of Medicine, Trakia University, Stara Zagora, Bulgaria

Alexandar ZdraveskiClinic of Surgery, Faculty of Medicine, Trakia University, Stara Zagora, Bulgaria

Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, Republic of MacedoniaCorrespondence[email protected]

Abstract

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].

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The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family

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Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family

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