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Blood, 1961, Vol. 18, No. 2, pp. 149-165.
© 1961 American Society of Hematology, Inc.
The Mode of Inheritance of PTA Deficiency:
Evidence for the Existence of Major PTA
Deficiency and Minor PTA Deficiency
SAMUEL I. RAPAPORT 1,
ROBERT R. PROCTOR 1,
MARY JANE PATCH 1, and
MAURICE YETTRA 1
1 Department of Medicine, University of Southern California School of Medicine,
and the Southern California Permanente Medical Group and the Kaiser Foundation Hospital, Los Angeles, Calif.
Plasma thromboplastin antecedent (PTA) activity was measured with a
quantitative assay in the available members of the families of eight propositi
with severe PTA deficiency. PTA deficiency was found to exist in two forms:
major PTA deficiency, characterized by PTA levels of up to 20 per cent of our
standard reference plasma and by the potential for serious surgical bleeding,
and minor PTA deficiency, characterized by PTA levels between 30 and 65
per cent of our standard reference plasma and by the absence of significant
surgical bleeding. Minor PTA deficiency was found in parents and children
of subjects with major PTA deficiency.
It would appear that the gene for PTA deficiency is an incompletely recessive or "intermediate" gene which produces major PTA deficiency in the homozygote and minor PTA deficiency in the heterozygote.
Submitted on March 27, 1961
Accepted on May 16, 1961

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