![]() Both pathways converge at the production of factor Xa. This resulting generation of factor XIIa activates factor XI to factor Xia, which converts factor IX to factor IXa. Factor XII undergoes a conformational change resulting in the small generation of factor XIIa, which activates PK to kallikrein with reciprocal activation of factor XII to XIIa. The intrinsic pathway becomes activated when factor XII, prekallikrein (PK), and high-molecular-weight kininogen in the blood become exposed to an artificial surface. Tissue factor then binds activated factor VIIa forming a complex, which activates factors IX and X into IXa and Xa, respectively. The extrinsic pathway gets triggered by disruption of the endothelium and exposure of TF in the subendothelium. Both pathways consist of a series of cascade enzyme activation events that lead to the formation and stabilization of a blood clot by crosslinking of fibrin monomers and activation of platelets. The process of blood clot formation involves the activation of two pathways – the extrinsic or tissue factor (TF) pathway and the intrinsic or the contact pathway. With new advances in early diagnosis and treatment therapies, affected individuals should expect a normal life expectancy. However, Ashkenazi Jews have a higher incidence of factor XI deficiency, which is around 8% (5). Hemophilia C occurs in 1 of every 100,000 people. Due to its X-linked inheritance pattern, geographical areas with a higher frequency of consanguineous marriages like Egypt have higher prevalence of the disease. it presents in 1 in 5,000 live births, whereas hemophilia B presents in 1 in 30,000 live births. Hemophilia A is more prevalent (80% to 85% of the total hemophilic population) than hemophilia B. ![]() The estimated frequency of hemophilia is around 1 in 10,000 live births, and the number of people worldwide living with hemophilia is about 400,000 (4). Hemophilia is equally distributed among all ethnic groups worldwide. Females could also be affected if there is a complete inactivation of chromosome X through lionization, partial or complete absence of chromosome X such as Turner Syndrome or if both parents carry the abnormal gene (3). ![]() Female carrier mothers have a 50% chance of having affected males and a 50% chance of having carrier females. Both hemophilia A and B are inherited via an X-linked recessive pattern where 100% of females born from affected fathers will be carriers, and none of the males will be affected. The encoding genes for factors VIII and IX are present in the long arm of chromosome X. Research has identified over 1,000 mutations in the genes encoding factor VIII and IX, and around 30% are due to spontaneous mutation (2). It is always due to a defect or mutation in the gene for the clotting factor. Hemophilia is usually an inherited condition and is caused by the deficiency of clotting factors in the blood. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in case of positive family history. The patient should receive treatment in a comprehensive treatment center where interprofessional services are offered at all times to the patients and their families. The principal aim of care should be to avoid and treat bleeding. The purpose of this document is to identify the etiology of hemophilia, review the evaluation of hemophilia, outline the treatment and management options available for hemophilia and describe interprofessional team strategies for improving care coordination and communication to advance hemophilia and improve outcomes. Hemophilia is the most common of the severe bleeding disorders and if not properly managed since early infancy can lead to chronic disease and lifelong disabilities. Nasse was the first to publish the genetic description of hemophilia in Nasse’s Law: which states that hemophilia is transmitted entirely by unaffected females to their sons (1). ![]() He then called them the “bleeders.” Hemophilia, as a word, was first documented by Johann Lukas Schonlein in his dissertation at the University of Zurich, Switzerland. He described and inherited bleeding disorder in several families where only males born from unaffected mothers are affected. The earliest description in modern history was documented by the American physician Dr. The earliest description of ancient history dates from second century AD in Babylonian Talmud about a woman who had lost her first two sons from circumcision. Hemophilia has often been called “the disease of the kings,” as is often described in the descent of Queen Victoria of England. Hemophilia, which means love (philia) of blood (hemo), is the most common severe hereditary hemorrhagic disorder. Educational grant provided by Women's Health and Education Center (WHEC). WHEC Practice Bulletin and Clinical Management Guidelines for healthcare providers.
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