First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C)

Elham Ghadami; Ahmad Tamaddoni; Sadegh Sedaghat; Reza Tabaripour; Hadis Pourreza Baboli; Haleh Akhavan-Niaki

doi:10.1007/s12291-018-0765-7

First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C)

Indian J Clin Biochem. 2019 Jan;34(1):115-117. doi: 10.1007/s12291-018-0765-7. Epub 2018 Jun 18.

Authors

Elham Ghadami^#¹, Ahmad Tamaddoni^#², Sadegh Sedaghat³, Reza Tabaripour⁴, Hadis Pourreza Baboli⁵, Haleh Akhavan-Niaki^{1

5}

Affiliations

¹ 1Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.
² 2Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran.
³ 3Department of Internal Medicine, Ayatollah Roohani Hospital, Babol University of Medical Sciences, Babol, Iran.
⁴ Department of Cellular and Molecular Biology, Babol Branch, Islamic Azad University, Babol, Iran.
⁵ 5Genetic Laboratory of Amirkola Children Hospital, Babol University of Medical Sciences, Babol, Iran.

^# Contributed equally.

Abstract

α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical and hematological characteristics, which is of importance for genetic counseling. The present study describes for the first time a rare α1-globin nonsense mutation, codon 99 (HBA1: c.298A>T) associated with a α₂-chain variant Hb Fontainebleau (HBA2: c.64G>C) in a family from northern Iran. The case is a 23-year-old man with hypochromic microcytic anemia that requested for prenatal diagnosis. The combination of α1-globin mutation and Hb Fontainebleau can cause clinical and hematologic features of thalassemia. This combination also highlights the important heterogeneity of alpha thalassemia in this part of the world.

Keywords: Hb Fontainebleau; Mutation; α-Globin gene; α-Thalassemia (α-thal).

Publication types

Case Reports