Different clinical phenotype in triplets with haemophilia A
| Autor: | David Lillicrap, Victor S. Blanchette, Manuel Carcao, Kenneth G. Mann, Jayne Leggo, C. Barnes, P. Hilliard, A. M. Stain |
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| Rok vydání: | 2007 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Haemophilia A Hemophilia A Bioinformatics Haemophilia hemic and lymphatic diseases medicine Humans Computer Simulation Clinical phenotype Genetics (clinical) Genetics Clotting factor Factor VIII Polymorphism Genetic Triplets Unusual case business.industry Infant Hematology General Medicine medicine.disease Clinical disease Response to treatment Phenotype Child Preschool business |
| Zdroj: | Haemophilia. 13:202-205 |
| ISSN: | 1365-2516 1351-8216 |
| DOI: | 10.1111/j.1365-2516.2006.01396.x |
| Popis: | Summary. Although many patients with haemophilia may have exactly the same residual clotting factor level, the clinical disease phenotype may vary greatly. This variation may be related to different genetic mutations responsible for haemophilia, environmental influences and co-inheritance of polymorphisms affecting the coagulation system. The study of siblings with haemophilia offers the opportunity to examine additional factors, other than genetic mutation and environment that may impact on the clinical phenotype of haemophilia. We present the unusual case of haemophilia occurring in fraternal triplets. Each of the triplets had a slightly different pattern of bleeding and response to treatment. |
| Databáze: | OpenAIRE |
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