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Evidence for Modifying the Classical Sex-Linked Recessive Hypothesis

PAUL DIDISHEIM, M.D.; JOHN H. FERGUSON, M.D.; JESSICA H. LEWIS, M.D.

AMA Arch Intern Med. 1958;101(2):347-354.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

In 1803, Dr. John C. Otto,¹ of Philadelphia, reported observations on a familial hemorrhagic disorder affecting only males but transmissable via some of the unaffected females. Otto's observations undoubtedly concerned patients whom we now speak of as having hemophilia A (classical hemophilia, antihemophilic factor [AHF] deficiency) or hemophilia B (Christmas disease,² plasma thromboplastin component [PTC] deficiency³), the genetics of these two disorders being apparently identical. Thus the term "sex-linked recessive" has been applied to both conditions, and by and large the female carrier or heterozygote in such families is asymptomatic and undetectable by most laboratory tests. However, the data of a number of investigators^4-9 who have studied a few such carriers by means of recently developed tests suggest that the carrier state is attended in some cases with both clinical and laboratory manifestations of a mild hemorrhagic disorder. In an attempt to shed further light on . . . [Full Text PDF of this Article]

Author Affiliations
Pittsburgh

Footnotes
Submitted for publication Sept. 30, 1957.

From the Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, and the Department of Physiology University of North Carolina School of Medicine, Chapel Hill, N. C. Supported in part by grants from the Pittsburgh Chapter, National Hemophilia Foundation, and the National Institutes of Health, United States Public Health Service (H-1510 and H-2254). Part of this work was done during the tenure of a postdoctorate fellowship from the Life Insurance Medical Research Fund (Dr. Didisheim).

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