The prevalence of alpha thalassaemia as determined by multiplex PCR in a Cohort of patients in Abuja, Nigeria

Abstract

The need for scaling up training to attain a critical mass of family physicians in Africa was affirmed in 2012 by participants at the
Background: Alpha thalassaemia results from absent or decreased production of the haemoglobin alpha chain, besides being particularly common in China, Southeast Asia with up to 40% of the population being carriers have also been shown to be prevalent in the tropical and subtropical countries including Nigeria. 
Several studies have shown that alpha thalassaemia does co – exist with sickle cell anaemia (SCA). Furthermore, studies from Jamaica, America and India have shown that alpha thalassaemia is a modulator of sickle cell anaemia. There are very few studies in Nigeria concerning the coexistence of alpha thalassaemia, hence this study was carried out to determine the coexistence of alpha thalassaemia and the demographic characteristics of  cases occurring in Nigeria.
Methods: Fifty-two (52) sickle cell anaemia patients whose sickle cell electrophoretic pattern had already been determined through Haemoglobin electrophoresis, who were attending haematology outpatient clinic at National Hospital Abuja were screened for alpha thalassaemia.
Results: A total of 52 patients, were enrolled into the study. All the patients included in the study were confirmed to have sickle cell anaemia. four of the fifty-two patients with sickle cell anaemia had alpha thalassaemia giving a prevalence of 7.69% and a gene frequency of 0.08. Of the four that also had Alpha Thalassaemia, there were three males and one female, however all four had heterozygous single gene deletion –α3.7/αα.
Conclusion: The prevalence of alpha thalassaemia in patients with sickle cell anaemia at the National hospital Abuja has been determined as 7.69% with a gene frequency of 0.08

Key words: Alpha Thalassaemia, Sickle cell anaemia, gene deletion, co-existence, and prevalence.
Abbreviations: SCA = Sickle Cell Anaemia, DNA = Deoxyribonucleic acid, PCR = Polymerase Chain Reaction