Beta thalassaemia in Nigeria: Myth or Fact?

Abstract

Background: The high prevalence of sickle cell disorders and the mild deletional a-thalassaemia among Nigerians is well known, but β-thalassaemia is believed to be almost nonexistent. Beta thalassacmia trait (BTT) was screened for in patients with unexplained recurrent haemolytic anaemia and healthy individuals. Methods: β-thalassaemia trait (BTT) was screened for using MCH and HbA2 of 27pg and 3.5% respectively as cut off in 151 Nigerians which included 29 patients and 122 apparently healthy individuals. The subjects were categorized into four, Group I (high HbA2, low MCH), Group II (low HbA2, and MCH), Group III (high HbA2 and high/normal MCH) and Group IV (normal HbA2 and MCH). Results: Group I are possible carriers of BTT while group IV are least likely to carry either alpha or beta thalassaemia genes. There were 36 (26%), 39 (28%), 27 (19%) and 38 (27%) in groups I-IV respectively. The mean MCH, MCV, haematocrit and HbA2, for the study population were 26±2.8, 81±7.9,37.5±6.8 and 3.4±1.7 respectively. The mean MCV and haematocrit were significantly lower for group I compared to group IV (76.9 Vs 86.6, p=0.00) and (36.5Vs39.7, p=0.03) respectively. Group II had significantly lower MCV and haematocrit than group IV (75.4(p=0.00) and 36.4(p=0.01) respectively. There was a positive correlation between the MCH and MCV with the haematocrit (p=0.004, p=0.001 respectively) but HbA2, showed a stronger negative correlation with the haematocrit (p<0.0001). Conclusion: This does not only show the presence of BTT, but a higher prevalence than previously thought, mutations responsible for it should therefore be characterized.