Patients with severe hemophilia generally exhibit a severe bleeding phenotype with
bleeding into joints or muscles at an early age. Although the severity and frequency of …

Several inherited prothrombotic risk factors have been identified so far. Among them, the
factor V (FV) Leiden mutation causes a reduced ability of activated protein C to inactivate …

Phenotypic variability is well recognized in severe hemophilia A. A few studies, mainly in
adults treated lifelong on demand, suggest that bleeding phenotype correlates with factor …

Since the publication of the sequence of the factor VIII (F8) gene in 1984, a large number of
mutations that cause hemophilia A have been identified and a significant progress has been …

Hemophilia A (HA) and hemophilia B (HB) are X‐linked, recessive disorders. Although their
clinical manifestations are essentially indistinguishable, it has been suggested that bleeding …

It is well known that the clinical phenotype of hemophilia may vary greatly among patients
with the same apparent level of coagulation factor and the same genetic mutation. Thus …

Abstract Introduction The Joint Outcome Study (JOS) demonstrated that previously untreated
children with severe haemophilia A treated with prophylactic factor VIII (FVIII) concentrate …

Introduction: In hemophilia A, factor activity usually correlates with clinical severity; however,
there are patients with severe hemophilia who have bleeding less than expected. Aim: The …

Methlenetetrahydrofolate reductase (MTHFR) is one of the most important enzymes for folic
acid metabolism. This protein's gene is mapped on chromosome 1, which is located at the …

5, 10-Metilentetrahidrofolat redüktaz (MTHFR) folik asit metabolizması için en önemli
enzimlerden biridir. Bu proteinin geni 1 numaralı kromozomun kısa kolunda (1p36. 3) …