HEMOPHILIA What is hemophilia? Its a disorder in which blood doesn’t clot normally and excessive bleeding (external and internal) occurs after any injury or damage. It’s an inherited hemorrhagic blood disorder.
ETIOLOGY
Hemophilia is caused by a mutation or change, in one of the gene, that provide instructions for making the clotting factor proteins needed to form a blood clot. The change or mutation can prevent the clotting protein from working properly. These genes are located in the X chromosome. It is an inherited genetic disorder that impairs the body’s ability to make blood clots, a process needed to stop bleeding .This results in bleeding for longer time after an injury, easy bruising and increase risk of bleeding inside joints or in the brain.
PATHOPHYSIOLOGY
Three mechanisms work together to facilitate healing when a blood vessel is injured. First, the blood vessels constricts to limit the volume of blood that is lost during an injury. Second circulating platelets form a plug at the site of injury. Finally, the blood undergoes coagulation, the process of blood clotting. This process allows the platelet plug to be stabilized by a fibrin matrix that is formed over its surface, thereby ensuring that the vessel wall can heal (Waugh and Grant, 2002). Factors VIII and XI are the only two of the thirteen proteins that are involved in the cascade process of coagulation. If there is an absence or deficiency of any of these proteins the coagulation process will be initiated but not completed: the platelet plug will remain unstable and bleeding will continue over a prolonged period of time.
CLASSIFICATION Its classified according to clinical severity as: mild, moderate or severe. 1. Patients with severe hemophilia usually has less than 1% factor VIII activity and experience spontaneous hemarthrosis and soft tissue bleeding in the absence of apparent precipitating trauma. 2. Patients with moderate hemophilia have 1-5% factor VIII activity and bleed with minimal trauma. 3. Patients with mild hemophilia have more than 5% factor activity and bleed only after significant trauma or surgery.
TYPES OF HEMOPHILIA
This blood disorder can be classified into three types namely:
1. Haemophilia ‘A’ is due to the deficiency of factor Viii. 2. Haemophilia ‘B’ also known as Christmas disease is due to the deficiency factor IX. 3. Haemophilia ‘C’ due to the deficiency of factor Xi. 4. Von Willie Brand’s is a related disease due to deficiency of VW antigen. 5. Para hemophilia: Occurs due to low levels of factor V. Acquired hemophilia is associated with cancer, autoimmune disorder and pregnancy.
SIGNS AND SYMPTOMS
The symptoms of hemophilia can be mild to severe, depending on the level of clotting factors one has. The main symptom is bleeding excessively. Others include: a. Frequent and hard to stop nose bleeding. b. Bleeding from wounds that last a long time. c. Bleeding gums. d. Skin that bruises easily. e. Bleeding in large joints of the elbows, knees, ankles and shoulder joints. f. Bleeding in the stool and urine.
INVESTIGATIONS AND DIAGNOSIS OF HEMOPHILIA
Investigation and diagnosis helps in conclusions based on signs and symptoms, history and observation. They include: 1. Screening tests. Blood tests that show if the blood is clotting properly. Types of screening tests include; a. Complete Blood Count (CBC) This test help measure the amount of hemoglobin (red pigment inside the red blood cells that carries oxygen), the size and numbers of different types of white blood cells and platelets found in blood. The CBC is normal in people with hemophilia. However, if a person with hemophilia usually has heavy bleeding for along time, the hemoglobin and the red blood cell count is low. b. Prothrombin Time (PT) Test. This test also measures the time it takes for blood to clot. It measures primarily the clotting ability of factors i, ii,V,Vii and X. If any of these factors are too low, it takes longer than normal for the blood to clot. The results of this test will be normal among most people with hemophilia A and B. c. Activated Partial Thromboplastin (APTT) Test. This test measures how long it takes for blood to clot. It measures the clotting ability of factors Viii, iX, Xi and Xii, if any of these clotting factors are too low, it takes longer than normal for the blood to clot. The results of this test will show a longer clotting time among people with hemophilia A and B. d. Fibrinogen Test This test also helps doctors assess the patient’s ability to form a blood clot, the test is done together with other blood clotting tests or when a patient has abnormal prothrombin time or activated partial thromboplastin time test result.
DIAGNOSIS FOR HEMOPHILIA
- Physical examination ,family medical history - Clotting factor tests - also called factor essays, they are required to diagnose a bleeding disorder. This blood tests shows the type of hemophilia and severity in order to create the best treatment plan. - DNA Test- helps to check on mutation that caused hemophilia in patients relative and compare it to the patients DNA. Therefore accurate diagnosis is essential for optimal management of hemophilia. Testing should be performed at a highly experienced specialized coagulation laboratory. TREATMENT - Both hemophilia A and B are treated by replacing the missing clotting factors, the commonest source Human Blood Plasma. - Recombinant Technology Plasma derived factor concentrates to produce synthetic factor Viii to avoid joint deformities. - Cryoprecipitate derived from blood and contains a moderate high concentration of clotting factors Viii, its effective for joint and muscle bleeds ,but is less safe for viral contamination than concentrates and is hard to store and administer. - Replacement Therapy that involves receiving replacement of the specific clotting factor that the patient needs through a tube placed in a vein. It can be given to combat a bleeding episode that’s in progress. It can also be administered on a regular schedule at home to help prevent bleeding while some receive continuous replacement therapy. - Desmopressin is used to treat minor bleeding. It is a synthetic hormone that stimulates release of factor Viii. Its administered through an injection. - For joint damage surgery can be used to remove damaged synovium (connective tissue that lines the inside of a joint capsule) so that new synovium can grow.
OCCUPATIONAL THERAPY INTERVENTION
Help clients to maintain, restore or increase their ability to care for themselves (ADL), engage in work/school and leisure. To develop individual and group programs for all age group to be as independent and functional as possible in different environments. To use preventive approach to promote health, prevent onset or increase of problems. To prevent and correct contractures and deformities using splints, to support and protect immobilized joints to allow healing. To use remedial approach to restore functions, activities to improve strength and range of motion for enabling daily activities. To use adaptive approach which include use of compensatory strategies to enhance functions. They include altering the task methods for easy completion of an activity, work simplification techniques, joint protection techniques. Environmental modification to facilitate task performance.
REFERENCES 1. Heim M, Amit Y, Tiktinsky R, Martinowitz U. Radioactive synoviorthesis Hemophilia, 2006. 2. Occupational therapy Practice Framework:Domain and process, 2nd ed.American Occupational Therapy Association, Inc.;2008. 3. Haemophilia newstoday.com 4. hhtps//www.medscape.com>answers 5. https://www.cdc.gov>ncbddd>facts.
A Study To Evaluate Effectiveness of Cold Application and Magnesium Sulphate Application On Superficial Thrombophlebitis Among Patients Receiving Intravenous Therapy in Selected Hospitals Amritsar.
A Study To Evaluate Effectiveness of Cold Application and Magnesium Sulphate Application On Superficial Thrombophlebitis Among Patients Receiving Intravenous Therapy in Selected Hospitals Amritsar.
