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Purpose: Knee arthropathy is a frequent complication affecting hemophilic patients, which can cause severe pain and disability. When conservative measures fail, total knee arthroplasty (TKA) may be performed., Methods: Eighteen TKA were performed in 15 patients with hemophilia during a 24-year period in a Hemophilia Comprehensive Care Center. All patients were evaluated by a multidisciplinary team constituted by a hematologist, an orthopedic surgeon, and a physical medicine and rehabilitation physician. Mean follow-up was 11.3 years., Results: Ten-year survival rate with prosthesis removal as end point was 94.3%. At last, follow-up visual analog pain scale score was 3.2 points, knee osteoarthritis outcome scale was 86.7 points, and mean range of motion was 88°. Only two patients required perioperative transfusion. Complication rate was 27.8% and included two infections, two prosthesis stiffness, and one case of recurrent hemarthrosis., Conclusion: After appropriate medical optimization and with prompt rehabilitation, TKA can be performed in hemophilic patients with good clinical results and survivor rates comparable to nonhemophilic patients.

Disease-causing alterations within the F8 gene were identified in 177 hemophilia A families of Portuguese origin. The spectrum of non-inversion F8 mutations in 101 families included 67 different alterations, namely: 36 missense, 8 nonsense and 4 splice site mutations, as well as 19 insertions/deletions. Thirty-four of these mutations are novel. Molecular modeling allowed prediction of the conformational changes introduced by selected amino acid substitutions and their correlation with the patients' phenotypes. The relatively frequent, population-specific, missense mutations together with de novo alterations can lead to significant differences in the spectrum of F8 mutations among different populations.

Despite the extensive information regarding hemophilia's hemorrhagic complications, the literature on cancer in hemophilia is scarce, especially in pediatric patients. Many uncertainties remain concerning diagnosis and workup. We report a rare case of two severe diseases (neuroblastoma and hemophilia A (HA)) concomitantly present in the same pediatric patient. We highlight that the diagnosis of severe HA did not have a negative impact on the patient's oncologic course. This case also illustrates the significance of the cooperation among different specialties and hospitals when caring for the same patient. [ABSTRACT FROM AUTHOR]

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unre- markable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding. [ABSTRACT FROM AUTHOR]