Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A
Copyright policy )Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A
Key Points Previously untreated patients with severe hemophilia A caused by F8 null mutations show a more severe phenotype than previously untreated patients with non-null mutations. The phenotypic differences are modest, and as such not likely to affect decisions regarding when and how to start prophylaxis.
- University of Toronto Canada
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Italy
- Utrecht University Netherlands
- Lund University Sweden
- University Museum Utrecht Netherlands
Adult, Factor VIII, Adolescent, Genotype, Hemorrhage, Hemophilia A, Severity of Illness Index, Cohort Studies, Genetic Heterogeneity, Young Adult, Phenotype, Codon, Nonsense, Child, Preschool, Sample Size, Humans, Child, Genetic Association Studies
Adult, Factor VIII, Adolescent, Genotype, Hemorrhage, Hemophilia A, Severity of Illness Index, Cohort Studies, Genetic Heterogeneity, Young Adult, Phenotype, Codon, Nonsense, Child, Preschool, Sample Size, Humans, Child, Genetic Association Studies
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