Blood, 1960, Vol. 16, No. 2, pp. 1184-1198.
© 1960 American Society of Hematology, Inc.
Combined Deficiencies of PTA and AHG
with Vascular Fragility
SEYMOUR PERRY 1,
RICHARD OPFELL 1, and
MARY BAKER 1
1 Department of Medicine, School of Medicine, University of California at Los
Angeles, and the Hematology Research Laboratory, Wadsworth Hospital, Veterans Administration Medical Center, Los Angeles, Calif.
Coagulation studies in a 22 year old Caucasian male have revealed the presence of combined deficiencies of PTA and AHG with vascular fragility.
Members of his family have been shown to have isolated deficiencies of PTA,
AHG, vascular fragility and various combinations of all three defects. The
family studies indicating segregation of the PTA and AHG deficiencies lend
support to the concept that these two are clinically separate entities.
The inheritance patterns of PTA deficiencies and AHG deficiencies with
vascular fragility are discussed.
The problems encountered in this type of study are mentioned, and the
precautions to be observed are indicated.
Submitted on November 9, 1959
Accepted on March 9, 1960