The introduction of replacement therapy in the 1960s has improved medical and social circumstances gradually. The availability of prophylactic treatment has further increased the possibilities of a "normal" life for patients with hemophilia. We examined whether social participation and health-related quality of life (HRQol) of today's hemophilia patients differs from the general male population...

In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people...

INTRODUCTION Muscle hematomas are the second most common complication of hemophilia and insufficient treatment may result in serious and even life-threatening complications. Hemophilic dogs and rats do experience spontaneous muscle bleeding, but currently, no experimental animal model is available specifically investigating spontaneous muscle bleeds in a hemophilic setting. AIM The objective ...

For the past 5 decades, the care for hemophilia patients has improved significantly to the point that a newborn with hemophilia living in a developed nation can expect to have a normal lifespan and a high quality of life. Despite this, there are several new challenges that the hemophilia community will face in the coming years. First, the hemophilia community will soon be challenged with adopti...

BACKGROUND Hemophilia A is an inherited disorder caused by alterations in factor VIII gene (F8) located on the X-chromosome, the intron 22 inversion being the most common mutation. The rest are predominantly point mutations distributed along this large gene of 26 exons. AIM To implement a molecular diagnostic test to detect mutations in the F8 gene in Chilean patients with Hemophilia A. MAT...

Hemophilia is an X-linked inherited bleeding disorder consisting of two classifications, hemophilia A and hemophilia B, depending on the underlying mutation. Although the disease is currently treatable with intravenous delivery of replacement recombinant clotting factor, this approach represents a significant cost both monetarily and in terms of quality of life. Gene therapy is an attractive al...

BACKGROUND The main clinical manifestations of hemophilia are muscle and joint bleeding. Recurrent bleeding leads to a degenerative process known as hemophilic arthropathy. The development of inhibitors (antibodies against FVIII/FIX concentrates) is the main complication in the treatment of hemophilia. The objective was to assess the safety and efficacy of manual therapy treatment in a patient ...

Hemophilia is a common hereditary coagulation blood disorder due to the deficiency activity of clotting factors. divided into two, namely hemophilia A and B. Among all treatments, standard half-life (SHL) extended (EHL) factor replacement products are most commonly used. This study aimed review real-world evidence on comparison SHL EHL. literature search was conducted in PubMed google scholar p...

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department ...

Gene therapy during neonatal and infant stages is a promising approach for hemophilia B, a congenital disorder caused by deficiency of blood coagulation factor IX (FIX). An adenovirus (Ad) vector has high potential for use in neonatal or infant gene therapy for hemophilia B due to its superior transduction properties; however, leaky expression of Ad genes often reduces the transduction efficien...