A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism

Abstract

Single point mutations or small deletions in the ^Aγ - and ^Gγ-globin gene promoter region are associated to the nondeletional hereditary persistence of fetal hemoglobin (HPFH). Currently, DNA sequencing is most common technique adopted for detection of hemoglobin (Hb) mutations. However, some can be rapidly detected because they either destroy or create a recognition site for a restriction enzyme. Here we show that the 4 bp deletion, HBG1: g.-225_-222delAGCA in the ^Aγ-globin gene promoter can be easily detected using the Tru1I (MseI) restriction enzyme that cuts only in the absence of this deletion. This approach utilizes ordinary instrumentations (thermocycler and agarose gel electrophoresis) available in any basic molecular genetics laboratory, providing a reliable and inexpensive method of genetic screening.

Keywords:

• Aγ-globin gene promoter
• HBG1: g.-225_-222delAGCA
• high persistence of fetal hemoglobin (HPFH)
• protocol
• restriction enzyme

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

We are grateful to the Associazione Ligure Thalassemici Onlus (Ente Ospedaliero Ospedali Galliera, Genova, Italia), for financial support.