Detection of haemoglobinopathies at birth, using isoelectric focalization
Monplaisir, N.; Casius de Linval, J.C.; Sellaye, M.; Galacteros, F.; Braconnier, F.; Beuzard, Y.; Hilbert, J.; Mézin, R.; Quist, C.; Duville, S.; Rosa, J.
La Nouvelle Presse Medicale 10(38): 3127-3130
1981
ISSN/ISBN: 0301-1518 PMID: 7290974 Document Number: 177314
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.