Haemoglobin variants in nigeria: real-world data from a point-of-care device

Area of Science:

• Hematology
• Medical Diagnostics
• Public Health

Background:

• Cellulose acetate electrophoresis has been the standard for diagnosing hemoglobinopathies in low-middle-income countries (LMICs).
• Point-of-care (POC) devices are emerging as faster and more cost-effective diagnostic tools.
• Haemoglobinopathies, including sickle cell disease, beta thalassaemia trait (BTT), and hereditary persistence of fetal haemoglobin (HPFH), are significant public health concerns in LMICs.

Purpose of the Study:

• To analyze the results of haemoglobin variants diagnosed using the 'Gazelle' POC device.
• To compare the prevalence of haemoglobin variants between different patient groups, including antenatal care, premarital counselling (controls), and in-patients.
• To investigate the potential interrelationship between sickle cell anaemia, HPFH, and BTT in the studied population.

Main Methods:

• Retrospective analysis of 1093 haemoglobin variant results from a tertiary hospital over two years.
• Diagnosis of HPFH and BTT using specific cut-offs for HbF (≥15%) and HbA2 (≥3%).
• Comparison of genotype distributions and prevalence of HPFH and BTT between in-patients and controls (antenatal and premarital counselling groups).

Main Results:

• The prevalence of HPFH was 21% and BTT was 36% in the analyzed samples.
• HPFH prevalence was highest in HbSS individuals (47.8%), while BTT prevalence was highest in HbAA individuals (55.1%).
• BTT prevalence was significantly higher in the control group (38%) compared to in-patients (36%), while HPFH prevalence did not differ significantly.

Conclusions:

• The 'Gazelle' POC device provides valuable data for diagnosing haemoglobin variants.
• High prevalence rates of HPFH and BTT were observed, with distinct genotypic associations.
• The findings suggest a potential interrelationship between sickle cell anaemia, HPFH, and BTT in the community, warranting further investigation.