| Autor: |
F, Vianello, D, Belvini, F, Dal Bello, G, Tagariello, E, Zanon, A M, Lombardi, P, Zerbinati, A, Girolami |
| Rok vydání: |
2001 |
| Předmět: |
|
| Zdroj: |
Haemophilia : the official journal of the World Federation of Hemophilia. 7(5) |
| ISSN: |
1351-8216 |
| Popis: |
Haemophilia B patients with factor IX (FIX) activity1% are usually characterized by severe bleeding episodes early in life. We report a case of sporadic severe haemophilia B, clinically characterized by mild bleeding diathesis. The presence of anamnestic thrombophlebitis in the patient's mother prompted us to investigate a possible associated hypercoagulable condition. Resistance to activated protein C due to factor V R506Q mutation was present in the mother and in the propositus, in the homozygous and heterozygous form, respectively. Molecular analysis of the FIX gene led to the identification of a nonsense mutation resulting in a stop codon at position 50, previously described and usually responsible for a severe pattern of haemophilia B. The implications of this unusual association are discussed. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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