A study of a Caucasian family with variant von Willebrand's disease in association with vascular telangiectasia and haemoglobinopathy

Wahid Hanna, D. McCarroll, D. Lin, W. Chua, T. P. McDonald, James Chen, C. Congdon, R. D. Lange

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)275-278
Number of pages4
JournalThrombosis and Haemostasis
Volume51
Issue number2
StatePublished - Jul 5 1984

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von Willebrand Diseases
Hemoglobinopathies
Telangiectasis
Blood Vessels
Sickle Hemoglobin
Inheritance Patterns
Mucous Membrane
Type 2 von Willebrand Disease
Abnormal Hemoglobins
Ristocetin
Incidental Findings
Lip
Platelet Aggregation
Endoscopy
Mouth
Gastrointestinal Tract

All Science Journal Classification (ASJC) codes

  • Hematology

Cite this

A study of a Caucasian family with variant von Willebrand's disease in association with vascular telangiectasia and haemoglobinopathy. / Hanna, Wahid; McCarroll, D.; Lin, D.; Chua, W.; McDonald, T. P.; Chen, James; Congdon, C.; Lange, R. D.

In: Thrombosis and Haemostasis, Vol. 51, No. 2, 05.07.1984, p. 275-278.

Research output: Contribution to journalArticle

Hanna, Wahid ; McCarroll, D. ; Lin, D. ; Chua, W. ; McDonald, T. P. ; Chen, James ; Congdon, C. ; Lange, R. D. / A study of a Caucasian family with variant von Willebrand's disease in association with vascular telangiectasia and haemoglobinopathy. In: Thrombosis and Haemostasis. 1984 ; Vol. 51, No. 2. pp. 275-278.
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