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Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2007

Ivaskevicius V, Windyga J, Baran B, Schroeder V, Junen J, Bykowska K, Seifried E, Kohler H P, Oldenburg J

Abstract excerpt

Inherited factor XIII (FXIII) deficiency is known as one of the most rare blood coagulation disorder in humans. In the present study, phenotype and genotype of eight FXIII deficient Polish patients from five unrelated families were compared. The patients presented with a severe phenotype demonstrated by a high incidence of intracerebral haemorrhages (seven of eight patients), haemarthrosis (six patients) and...

Topics

Adult
Factor XIII
Factor XIII Deficiency
Female
Genotype
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype

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Poland

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Identifiers

PMID: 17880458
DOI: 10.1111/j.1365-2516.2007.01517.x

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