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[Detection of haemoglobinopathies at birth, using isoelectric focalization (author's transl)].

作者信息

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

出版信息

Nouv Presse Med. 1981 Oct 24;10(38):3127-30.

PMID:7290974
Abstract

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.

摘要

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