Community-initiated screening programme for beta-thalassaemia trait.

Area of Science:

• Hematology
• Medical Genetics
• Public Health Screening

Background:

• Thalassaemia is a significant inherited blood disorder.
• Accurate and accessible screening methods are crucial for early detection and management.
• Previous studies highlight the utility of red blood cell indices in thalassaemia trait identification.

Purpose of the Study:

• To determine the prevalence of beta-thalassaemia carriers in a Greek population.
• To evaluate the effectiveness of mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) as preliminary screening indicators for various thalassaemia traits.
• To assess the diagnostic overlap for delta-beta-thalassaemia trait using these indices.

Main Methods:

• Screening of 795 individuals of Greek origin for thalassaemia trait.
• Analysis of red blood cell indices, specifically MCV and MCH.
• Comparison of MCV and MCH values across different thalassaemia traits (alpha-1-thalassaemia, beta-thalassaemia, haemoglobin Lepore, delta-beta-thalassaemia) and normal ranges.

Main Results:

• A prevalence of 7.1% for beta-thalassaemia carriers was identified.
• MCV < 76 fL and MCH < 25 pg were confirmed as reliable indicators for alpha-1-thalassaemia, beta-thalassaemia, and haemoglobin Lepore traits.
• An overlap in MCV and MCH values with the normal range was observed in three individuals with provisional delta-beta-thalassaemia trait diagnoses.

Conclusions:

• MCV and MCH are valuable preliminary screening tools for common thalassaemia traits.
• The diagnostic utility of MCV and MCH for delta-beta-thalassaemia trait may be limited due to value overlap.
• Community attitudes towards screening surveys and their implications warrant discussion.