Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family

Abstract

We describe a novel compound heterozygous genotype which consists of two point mutations named Hb Adana (HBA1: c.179G>A) and codon 127 (HBA2: c.382A>T) in a Kurdish family with two girls affected with severe α-thalassemia (α-thal). Both patients (the proband and her sister) had a history of splenectomy during childhood. Although the proband had no blood transfusion history, her affected sister has had two blood transfusions so far. In conclusion, diagnosing and reporting new genotypes on the α-globin genes will improve our knowledge about complicated genotype-phenotype correlations in α-thal disorder.

Keywords:

• α-Thalassemia (α-thal)
• Hb Adana
• Iran

Acknowledgments

The authors are grateful to the patients and their families for consenting to participate in this study. We especially want to thank all the people at the Medical Genetics Laboratory, Kermanshah University of Medical Sciences, Kermanshah, Iran for their great kindness and collaboration.

Disclosure statement

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

Additional information

Funding

This study was supported from the Kermanshah University of Medical Sciences by grant number [#980659], Kermanshah, Iran.