Haemoglobin gene frequencies in the Jamaican population: a study in 100,000 newborns

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Abstract
Summary. The gene frequencies of abnormal haemoglobins have been determined in a group of 100 000 Jamaican newborns screened over a period of 8½ years. The population is predominantly of West African origin and the survey represents approximately one quarter of all island deliveries within the period of the study. The common β globin chain abnormalities βS and βc occurred with gene frequencies of 0.055 and 0.019 respectively; β thalassaemia was relatively rare. In contrast, α thalassaemia was quite common, occurring with a gene frequency of 0.183. In addition to these common abnormalities, the frequencies of 256 rare abnormal haemoglobins are described. This survey thus represents a complete and accurate documentation of the α and β globin variants that occur in the Jamaican population.