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Initiаl Pоst оn Hemоphiliа Introduction Hemophiliа is a mutation in one or more of the genes that inhibit the clotting factor proteins needed for forming a clot when an injury is sustained (CDC, 2022). It is usually inherited genetically, but can also occur spontaneously due to trauma from an injury or surgery. Hemophilia is made up of two subtypes. The most common form of hemophilia, Type A, is most often called “Classic Hemophilia”. Hemophilia B is referred to as “Christmas Disease” for Stephen Christmas, the first person ever to be diagnosed in 1952 (Alshaikhli A, Rokkam VR, 2020). Etiology and Risk Factors The cause of Hemophilia A is due to a deficiency of factor VIII in the blood. Likewise, the cause of hemophilia B is due to a deficiency of factor IX. A patient may be at increased risk for developing hemophilia based on their age, family history, other preexisting medical conditions, and gender. When hemophilia is caused by a genetic mutation, the genes affected are linked to the X chromosome and are recessive (Capriotti, 2020). The X chromosome carries many genes that the Y chromosome does not present. Males are more susceptible to having a mutation in their X chromosome due to there only being one copy. It is possible for females to have hemophilia, but it is not as common. Most of the time, the female is the carrier for hemophilia. A female that is a carrier can also have symptoms of hemophilia and pass a copy of the mutated X chromosome to her child (CDC, 2020). While hemophilia can occur due to a genetic mutation, it can also be a result of trauma. When hemophilia is influenced by trauma, it is called acquired hemophilia. Blood transfusions, bowel disease or surgery, cancer, autoimmune diseases, pregnancy, and post-partum bleeding episodes are included on the list of traumatic happenings that can increase the risk of acquired hemophilia developing. As age increases, a patient is at risk for intracranial hemorrhaging and joint issues. It is very rare for a person to be diagnosed with hemophilia later in life unless any trauma has occurred. Physical Assessment and Clinical Manifestations The symptoms of hemophilia A and B are similar due to there being a deficiency or dysfunctional coagulation factor. Symptoms that will be present if hemophilia is suspected are unexplained and excessive bleeding from injuries, large and deep bruises, swelling and pain in joints, the presence of blood in urine or stools, spontaneous nosebleeds, and unusual bleeding episodes after vaccinations are administered (Mayo Clinic, 2021). In cases that range from mild to moderate, bleeding usually does not occur unless there is trauma. Spontaneous bleeding can occur if cases are severe. Bleeding with hemophilia usually happens in soft tissue such as the gastrointestinal tract, and joints such as the hip, knee, shoulder, elbow, and ankle (Capriotti, 2020). When bleeding spreads into the muscular tissue, compression of arteries and veins occurs. This constriction of vessels is a leading cause of compartment syndrome. The risk for joint bleeding significantly increases when children begin to walk. Joint bleeding occurs when the synovium becomes inflamed and is usually accompanied by pain and swelling. When joint bleeding goes untreated, there is an increased risk for joint fibrosis and this can result in major disability for the patient. If bleeds are present in the oropharyngeal spaces, the central nervous system, or the retroperitoneum, immediate treatment is required (Capriotti, 2020). Clinical Practices for Hemophilia The first step in diagnosing a patient with hemophilia, a physician will perform a CBC, coagulation studies such as PT and aPTT, a complete factor VIII panel to identify hemophilia A, and a complete factor IX panel to identify the presence of hemophilia B (Capriottti, 2020). Hematocrit presents normal or low ranges and platelet counts are usually normal. A prothrombin test (PT) that assesses the extrinsic coagulation factors is in the normal range. An activated partial thromboplastin time (aPTT) is performed to demonstrate that the intrinsic factors of coagulation are prolonged. If a patient is diagnosed with either factor VIII or factor IX, the next step is for replacement therapy to occur. It is recommended individuals who wish to partake in replacement therapy should receive the hepatitis B vaccination in case there is an HIV or hepatitis b contamination in the donor cells. If a patient has factor VIII, desmopressin acetate (DDAVP) will be prescribed to help prevent the symptoms of hemophilia A. DDAVP stimulates the release of the von Willebrand factor, a protein in the blood that carriers factor VIII, and causes there to be a drastic increase of the deficient or missing clotting factor to be produced. Antifibrinolytic agents such as tranexamic acid and aminocaproic acid can also be prescribed to stop bleeding. If a patient presents with factor VIII or IX antibodies, monoclonal antibody medications such as rituximab and emicizumab can assist in the replacement of the decreased range of factors. With the cloning of factors VIII and IX, physicians hope that in the future hemophilia A and B can be cured through gene therapy (P. M. Mannucci, 2020). References Alshaikhli A, Rokkam VR (2020). Hemophilia B. In: StatPearls. StatPearls Publishing, Treasure Island (FL). PMID: 32809627. Capriotti, T. (2020). Davis Advantage for Pathophysiology Introductory Concepts and Clinical Perspectives (2nd ed., pp. 317-318). Megan E. Klim. CDC (2022, August 1). Hemophilia. Centers of Disease Control and Prevention. Retrieved March 6, 2023, from https://www.cdc.gov/ncbddd/hemophilia/facts.html Mannucci P. M. (2020). Hemophilia therapy: the future has begun. Haematologica, 105(3), 545–553. https://doi.org/10.3324/haematol.2019.232132Links to an external site. Mayo Clinic. (2021, October 7). Hemophilia - Symptoms and causes. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327
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