Balearic archipelago: three islands, three beta-thalassemia population patterns.

Area of Science:

• Genetics
• Population Genetics
• Medical Genetics

Background:

• Beta-thalassemia (β-thal) is a significant inherited blood disorder.
• Carrier screening is crucial for identifying individuals at risk.
• Understanding regional mutation spectra is vital for effective genetic diagnostics.

Purpose of the Study:

• To report the mutation spectrum of beta-thalassemia carriers in the Balearic Islands.
• To analyze the prevalence and distribution of β-thal mutations across different islands.
• To provide data for optimizing genetic diagnostic strategies in the region.

Main Methods:

• Pilot carrier screening of 22,713 individuals from the Balearic Islands.
• Identification and quantification of β-thalassemia mutations.
• Comparative analysis of mutation frequencies between islands.

Main Results:

• 175 β-thal carriers were identified.
• The most frequent mutation was β(0) CD39 (C>T) (61.1%), followed by β(+) IVS-I-110 (G>A) (12.0%).
• Distinct mutation prevalence and distribution were observed between islands, with Minorca showing high CD39 (C>T) frequency and Ibiza having IVS-I-110 (G>A) as the most common mutation.

Conclusions:

• The Balearic Islands exhibit a unique β-thalassemia mutation profile, influenced by historical and evolutionary factors.
• Minorca and Ibiza present distinct mutational patterns compared to other Western Mediterranean populations.
• Knowledge of this specific mutation spectrum is essential for tailoring genetic screening and diagnosis of β-thalassemia in the Balearic Islands.