Prevalence of α-Thalassemia in the Egyptian Population

Abstract

Hemoglobinopathies are the most common monogenic diseases in the world, causing many health problems worldwide. In Egypt, thalassemia is the most common cause of chronic hemolytic anemia and correlated with significant morbidity and mortality. One thousand Egyptian newborns were screened to detect α-thalassemia (α-thal) deletions using polymerase chain reaction (PCR)-based DNA analysis of cord blood samples. Ninety-one cases (9.1%) of the studied samples were proved to have at least one of the α genes deleted and 851 cases (85.1%) were normal by PCR analysis, while 58 samples (5.8%) failed to be amplified so further DNA analysis could not be done. In the studied group with α gene deletions, we found different types including silent carriers with only one α-globin gene deleted (3.1%), α-thal trait with two α-globin genes deleted (4.2%), Hb H disease with three α-globin genes deleted (1.8%) and no cases carrying Hb Bart’s disease with loss of four α-globin genes. We determined the deletional spectrum of α-thal, which might be used in the future for molecular investigations of the disease in susceptible patients in our population.

Keywords:

• α-Thalassemia (α-thal)
• Egypt
• deletional genotypes
• polymerase chain reaction (PCR) analysis

Acknowledgements

We thank all subjects for participating in this study. The authors would also like to thank Dr. Shahera ElShafie, Clinical and Chemical Pathology, El Fayoum University, El Fayoum, Egypt, Dr. Mona Aziz and Dr. Khalid ElZohery, Clinical and Chemical Pathology, Cairo University, Cairo, Egypt, for performing some of the laboratory studies. The manuscript has been read and approved by all authors. The manuscript has not been published, submitted, or accepted for publication elsewhere.

Disclosure statement

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