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Thromb Haemost 1984; 51(02): 275-278
DOI: 10.1055/s-0038-1661076
Original Article
Schattauer GmbH Stuttgart

A Study of a Caucasian Family with Variant von Willebrand’s Disease in Association with Vascular Telangiectasia and Haemoglobinopathy

W Hanna
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
D McCarroll
*   The Blood Center of Southeastern Wisconsin, Milwaukee, Wisconsin, U.S.A.
,
D Lin
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
W Chua
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
T P McDonald
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
J Chen
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
C Congdon
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
,
R D Lange
The Department of Medical Biology, The University of Tennessee Memorial Research Center and Hospital, Knoxville, Tennessee, U.S.A.
› Author Affiliations
Further Information

Publication History

Received 10 October 1983

Accepted 21 February 1984

Publication Date:
19 July 2018 (online)

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Summary

A family was identified which carries multi-haematological disorders including Type IIA von Willebrand’s disease, vascular telangiectasia, and a haemoglobinopathy (haemoglobin S trait). In the affected individuals, the von Willebrand’s disease varies in its expression from an asymptomatic form to a severe form especially in those patients with telangiectasia. Some patients have vascular telangiectasia in the mucous membranes of the mouth and lips. In two patients endoscopy disclosed telangiectasia in the mucous membranes of the gastrointestinal tract. All of the patients who had telangiectasia also had von Willebrand’s disease. An incidental finding was the presence of an abnormal haemoglobin (haemoglobin S) in some family members. The pattern of inheritance of the haemoglobinopathy was unrelated to the inheritance pattern of von Willebrand’s disease. The presence of haemoglobin S did not interfere with the aggregation of platelets in response to ristocetin.

Keywords

Variant II A von Willebrand’s disease - Haemoglobinopathy - Vascular telangiectasia
 

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