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Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene
Mohammad Hamid
1* 
, Zahra Shahbazi
1, Bijan Keikhaei
2, Hamid Galehdari
3, Alihossein Saberi
4, Alireza Sedaghat
5, Gholamreza Shariati
4,6* , Marziye Mohammadi-Anaei
61 Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
2 Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
3 Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran
4 Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
5 Department of Endocrinology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
6 Narges Medical Genetics & PND Laboratory, No. 18, East Mihan Ave, Kianpars, Ahvaz, Iran
*Corresponding Authors: Corresponding Author: Mohammad Hamid, PhD; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran. Tel:+98-21-64112441, Fax:+98-21-66480780, E-mail: , Email:
hamid143@yahoo.com; Corresponding Authors: Gholamreza Shariati, PhD; Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Tel:+98-61-3336681; Fax:+98-61-13336682, E-mail: , Email:
Shariatig@yahoo.com
Abstract
In this study, we describe a new missense variant on the β-globin gene in a heterozygous form in a female individual. Standard methods were used to determine red blood cell indices and perform hemoglobin analyses. Molecular studies were performed on the genomic DNA isolated from peripheral blood cells. Beta-globin genes were amplified and sequenced. We report a novel mutation on the β-globin gene (HBB), c.134 C>T; p.S44F variant, in the heterozygote state which was detected in a female of Persian ethnic origin in the Khuzestan province, southern Iran, that we named Hb Narges Lab (HbNL) variant. This mutation was predicted to be disease-causing in all except one in silico prediction tools. This variant was reported for the first time worldwide, had no shown hematological abnormalities but should be considered when inherited in the compound heterozygous form with β- thalassemia (β0-thal) carrier, which might result in the phenotype of thalassemia intermedia.
Cite this article as: Hamid M, Shahbazi Z, Keikhaei B, Galehdari H, Saberi A, Sedaghat A, et al. Hb narges lab, a novel hemoglobin variant of the β-globin gene. Arch Iran Med. 2022;25(5):339-342. doi: 10.34172/aim.2022.52