[Detection of haemoglobinopathies at birth, using isoelectric focalization (author's transl)].
The incidence and nature of haemoglobinopathies were investigated at birth in Martinique, where 4635 samples of umbilical cord blood were examined. Conventional blood values were determined, and a new, extremely simple and highly selective test was performed: isoelectric focalization. Abnormalities were found in 14.3% of blood samples, viz: A/S 7.25%, A/C 3.17%, S/S 0.17%, S/C 0.24%, C/C 0.04%, other mutations 0.63% alpha-thalassaemia minor (alpha 1-thal) 1.72% and isolated microcytosis 1.01%. Unusual abnormalities included 7 different mutations of the 4a-chain, 3 of the beta-chain and 3 of the gamma-chain. The clinical and epidemiological importance of such investigations is emphasized.
D005312:Fetal Blood / Q000032:analysis; D006453:Hemoglobinopathies / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000453:epidemiology*; D007525:Isoelectric Focusing; D008395:Martinique; D008403:Mass Screening; D009154:Mutation
Dépistage des hémolgobinopathies à la naissance par isoélectrofocalisation. Etude de la population de la martinique.