Prevalence of Thalassemia in Nigeria: Pathophysiology and Clinical Manifestations

Abstract

There is evidence linking genes for thalassaemia, sickle cell diseases, and glucose-6-phosphate dehydrogenase (G6PD) deficiency to a high prevalence of malaria infection. Haemoglobinopathies are hereditary conditions that mostly results in thalassaemia and sickle-cell anaemia. The current global haemoglobin gene carrier population (i.e., healthy individuals who have acquired only one mutant gene from one parent) is between 1 and 5%. Some haemoglobinopathy genes (alpha-thal, beta-thal and HbS) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively. Nigerians have a prevalence of 25–30% for sickle cell anaemia (SCA), G6PD, but both alpha thalassaemia and beta thalassaemia are at the lower limit. Thalassaemia and SCA have comparable clinical manifestations. which is quite prevalent in Nigeria? This could lead to underdiagnosis of thalassaemia, which accompany hypochromia and microcytosis, that could be mistaken for iron deficiency anaemia. Depending on the levels of foetal haemoglobin and haemoglobin A2, thalassemia, iron deficiency anaemia, and sickle cell disease continue to be the most common chronic types of anaemia. This review provides details information on the prevalence of thalassaemia in Nigeria and molecular mechanisms in the expression of thalassaemia genes. The authors also suggest various possible way to minimize the occurrences of thalassaemia in Nigeria