Protoporphyrin (proto) -determined hepatopathy in a South African Jewish family

Eales, L.; Day, R.S.; Pimstones, N.R.

Annals of Clinical Research 10(4): 205-213

1978


ISSN/ISBN: 0003-4762
PMID: 707969
Document Number: 137814
A detailed study of a Jewish erythrohepatic protoporphyria (EHP)-affected family with a sibship consisting of 2 brothers and a sister, all of whom manifested protodetermined hepatopathy which varied from relatively mild hepatic involvement in the sister to a fulminant fatal illness in the eldest brother. The nature and course of his illness as well as the autopsy findings are described in detail. This sibship is also unique in that the 2 brothers and biochemical evidence of a severe degree of G6PD deficiency, while the sister was shown to be a carrier.

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