Severe Coagulation Anomalies in a Family of Haemophiliacs

Guidi, Grazia; Scardigli, G

doi:10.1159/000205140

Cited by 5 publications

(2 citation statements)

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“…activity was found only in their mother (11-1 1) and a significant decrease of Factor VIII activity/Factor VIII-related antigen ratio was found only in their mother (11-1 1) and maternal grandmother (1)(2)(3)(4). Besides the propositus and his two brothers, Factor XI deficiency was also demonstrated in two sisters (111-4 and 111-51, the father (11-2), and two paternal aunts (11-1 and 11-4).…”

Section: Resultsmentioning

confidence: 99%

Combined deficiencies of factor vlll (ahf) and factor xi (pta)

1976

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Combined deficiencies of Factor VIII and Factor XI associated with moderate degree of bleeding symptoms were found in 3 brothers. Examination of Factor VIII activity and Factor VIII-related antigen revealed that the Factor VIII activity/Factor VIII-related antigen ratio was significantly decreased in their mother and maternal grandmother consistent with the carrier state of hemophilia. Factor XI deficiency was found in 2 siblings, the father, and 2 of his sisters. The paternal grandmother was thought to carry the abnormal Factor X I gene, although her Factor XI level was normal, because of a significant bleeding history. It was concluded that the combined Factor VIII and XI deficiencies in the 3 brothers represent the coincidental inheritance of 2 separate and independent abnormal genes.

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Section: Resultsmentioning

confidence: 99%

Combined deficiencies of factor vlll (ahf) and factor xi (pta)

1976

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“…In 5 unrelated cases, family studies were insuf ficient to allow determination of the hereditary mode [4,50,86,99,118]. An additional family has been described in which some members had Factor VIII deficiency, while others had Factor XI defi ciency [117]. No individual in that family had both deficiencies.…”

Section: Combined Factor Vim and Factor XI Deficiencymentioning

confidence: 99%