VON WILLEBRAND'S DISEASE IN AN ICELANDIC FAMILY

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Abstract
In a family with von Willebrand's disease thirteen members, eight males and five females, had a history of excessive bleeding. These are from a total of 41 individuals in nine pertinent sibships. Severe symptoms of bleeding predominate in the males, two of whom died from haemorrhage. Typical lesions of hereditary haemorrhagic telangiectasia were found in one female who is considered to be a carrier of the von Willebrand's disease gene. There is a reduced expressivity of the mutant gene, amounting to nonpenetrance in at least some of the female members of the family.The laboratory, clinical and hereditary findings in this family suggest much higher prevalence of the mutant gene than is indicated by clinically affected cases.