# Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene

## TL;DR

Researchers discovered a new β-globin gene variant in a woman from Iran that could cause thalassemia intermedia if inherited with β-thalassemia.

## Contribution

The study reports a novel β-globin gene mutation (Hb Narges Lab) with potential clinical implications when combined with β-thalassemia.

## Key findings

- A novel β-globin gene variant (c.134 C>T; p.S44F) was identified in a heterozygous female from southern Iran.
- The mutation was predicted to be disease-causing by most in silico tools but showed no hematological abnormalities in the carrier.
- The variant could lead to thalassemia intermedia when inherited with β-thalassemia in a compound heterozygous state.

## 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.