Blood, 1960, Vol. 15, No. 6, pp. 807-829.
© 1960 American Society of Hematology, Inc.
Congenital Vascular Defect Associated with Platelet
Abnormality and Antihemophilic Factor Deficiency
GIOVANNI RACCUGLIA 1,
JAMES V. NEEL 1,
Ruth T. Davidson 1, and
Mary Jane Ussery 1
1 Simpson Memorial Institute, Department of Internal Medicine, and the Department of Human Genetics, the University of Michigan Medical School, Ann Arbor, Mich.
1. A kindred of 311 individuals, many members of which are affected by a
hemorrhagic diathesis, has been described.
2. The variability in the manifestations of this diathesis is extreme. In
its fullest expression the disease is characterized by a prolonged bleeding time
with evidence of a morphologic defect in the platelets, and a deficiency in
antihemophilic globulin. Some possibly affected individuals exhibit only a
prolonged bleeding time, while, on the other hand, the clinically most severely
affected individual, with AHF levels on several occasions of 5 to 10 per cent,
has not been observed by us to have a prolonged bleeding time, although his
platelets are morphologically abnormal.
3. Genetic analysis suggests that the hemorrhagic tendency is determined
by a single dominant gene of variable penetrance and expressivity.
4. No satisfactory explanation can be developed on the basis of these studies
for the association between platelet abnormality and AHF deficiency. More
specifically, it is impossible to conclude whether the platelet defect is precursor to the AHF deficiency, or whether—as on a priori grounds seems less
likely—this is an example of true genetic pleiotropy.
5. The terminologic chaos which afflicts the literature on hemorrhagic
diatheses characterized by a prolonged bleeding time is discussed in the light
of the findings in this one large kindred, and suggestions are advanced for
minimizing confusion based on terminology alone.
Submitted on July 27, 1959
Accepted on November 8, 1959
