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We tested the frequency of the ΔF508 mutation and haplotypes linked to the cystic fibrosis (CF) gene in Cuba. The ΔF508 deletion was detected in 34.0% of the CF chromosomes. There was a shortage of ΔF508 heterozygotes, suggesting non-randomness in mating patterns. Haplotype B (XV2C/KM19 1/2) was found on 40.5% of the CF chromosomes (71.5% of ΔF508 chromosomes, 28.3% of non-ΔF508 CF chromosomes) against 13.5% of non-CF chromosomes.

A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.

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