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A dual hereditary red blood cell defect in one family: Hypocatalasemia and glucose-6-phosphate dehydrogenase deficiency

Published online by Cambridge University Press:  01 August 2014

À. Szeinberg ,
À. de Vries ,
J. Pinkhas ,
M. Djaldetti  and
R. Ezra
À. Szeinberg
Affiliation:
The Tel-Hashomer Institute of Human Genetics, Tel Aviv University, and the Rogoff Medical Research Institute, Department of Experimental Biology of the Tel Aviv University and the Labour Sickfund, Beilinson Hospital, Petah Tikva (Israel)
À. de Vries
Affiliation:
The Tel-Hashomer Institute of Human Genetics, Tel Aviv University, and the Rogoff Medical Research Institute, Department of Experimental Biology of the Tel Aviv University and the Labour Sickfund, Beilinson Hospital, Petah Tikva (Israel)
J. Pinkhas
Affiliation:
The Tel-Hashomer Institute of Human Genetics, Tel Aviv University, and the Rogoff Medical Research Institute, Department of Experimental Biology of the Tel Aviv University and the Labour Sickfund, Beilinson Hospital, Petah Tikva (Israel)
M. Djaldetti
Affiliation:
The Tel-Hashomer Institute of Human Genetics, Tel Aviv University, and the Rogoff Medical Research Institute, Department of Experimental Biology of the Tel Aviv University and the Labour Sickfund, Beilinson Hospital, Petah Tikva (Israel)
R. Ezra
Affiliation:
The Tel-Hashomer Institute of Human Genetics, Tel Aviv University, and the Rogoff Medical Research Institute, Department of Experimental Biology of the Tel Aviv University and the Labour Sickfund, Beilinson Hospital, Petah Tikva (Israel)

Summary

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A family of Iranian-Jewish origin with two hereditary enzymatic defects in the red blood cells, catalase deficiency and glucose-6-phosphate dehydrogenase deficiency, is described. The two enzymatic defects were inherited independently of each other. The findings are compatible with a transmission of the catalase deficiency by an autosomal gene of incomplete dominance, the homozygous state resulting in severe catalase deficiency and the heterozygous state in intermediate catalase deficiency.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 12 , Issue 3 , July 1963 , pp. 247 - 255
Copyright
Copyright © The International Society for Twin Studies 1963

References

Literature

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