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

W Hanna; D McCarroll; D Lin; W Chua; T P McDonald; J Chen; C Congdon; R D Lange

doi:10.1055/s-0038-1661076

Thrombosis and Haemostasis, Table of Contents

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

Abstract

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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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References

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