Hemophilia ESPE 3760

HEMOPHILIA : 

ESPE 3760 HEMOPHILIA

WHAT IS HEMOPHILIA? : 

Hemophilia refers to a group of inherited disorders that cause abnormal bleeding The bleeding occurs because part of the blood(called plasma) has too little of a protein that helps blood clot Clotting is the process by which your blood changes from a liquid to a solid state in order to stop bleeding The two most common forms of the disorder are Hemophilia A and Hemophilia B Hemophilia is a lifelong disease, but with proper treatment and self-care, most people with Hemophilia can maintain an active, productive lifestyle WHAT IS HEMOPHILIA?

HEMOPHILIA A : 

Also called Classic Hemophilia Most common and occurs in about 85% of people with Hemophilia Results from too little of a plasma protein called factor VIII, which helps blood clot The greater the deficiency, the more severe the symptoms: Mild Hemophilia: 5% to 25% of the normal factor VIII level Moderate Hemophilia: 1% to 5% of the normal factor VIII level Severe Hemophilia: less than 1% of the normal factor VIII level Most people with Hemophilia A have moderate or severe symptoms HEMOPHILIA A

HEMOPHILIA B : 

Also called Christmas Disease Less common and occurs in about 15% of people with Hemophilia Results from too little of a plasma protein called factor IX, which helps blood clot As in Hemophilia A, Hemophilia B can be mild, moderate, or severe The greater the deficiency, the more severe the symptoms HEMOPHILIA B

RECOGNIZING HEMOPHILIA : 

If there is no family history of Hemophilia, an infant would not be tested for the condition If there is a family history of Hemophilia, specific tests can be done from an umbilical cord blood sample to see if a newborn infant has hemophilia In fact, if the family desires, such testing can be done before a child is born For moderate or severe Hemophilia-doctors and caregivers usually don’t see any signs of the condition at birth or even for some time afterward Symptoms in children may include the following: Heavy bleeding in a male baby after circumcision Excessive bruising or unusual bleeding during teething Swollen, bruised joints or muscles when learning to walk Frequent falls and bumps RECOGNIZING HEMOPHILIA

RECOGNIZING HEMOPHILIA : 

For mild Hemophilia-you may not have any noticeable symptoms until you undergo a dental procedure, which may cause you to bleed heavily, or you may not have any unusual bleeding unless you are injured in an accident or have surgery RECOGNIZING HEMOPHILIA

CAUSES OF HEMOPHILIA : 

Coagulation involves blood particles called platelets and procoagulant plasma proteins called clotting factors The cause of Hemophilia is a deficiency of one of these clotting factors: Factor VIII for Hemophilia A Factor IX for Hemophilia B Hemophilia is a genetic disease linked to a defective gene on the X chromosome Chromosomes come in pairs – women have two X chromosomes while men have one X and one Y chromosome A woman who has the defective gene is called a “carrier” and usually has no symptoms – she carries the disease and can pass it on to her children CAUSES OF HEMOPHILIA

CAUSES OF HEMOPHILIA : 

When a woman who is a carrier has a son, the son receives one X chromosome from his mother, so he has a 50% chance of receiving the defective gene (and a 50% chance of receiving a normal copy of the gene) Boys who receive the defective gene have Hemophilia However, when a woman who is a carrier has a daughter, the daughter has a 50% chance of receiving the defective gene and , therefore, being a carrier herself Men who have Hemophilia do not pass the disease to their sons because boys inherit only a Y chromosome from their father CAUSES OF HEMOPHILIA

CAUSES OF HEMOPHILIA : 

However, men do pass their X chromosome, and thus a defective gene, to each of their daughters, so each of their daughters is a carrier If the father has Hemophilia and the mother is a carrier, there is a chance the daughter will have Hemophilia About 70% of people who have Hemophilia can trace Hemophilia back through their family for multiple generations In about 30% of newly diagnosed infants with Hemophilia, no other family member is known to have had Hemophilia CAUSES OF HEMOPHILIA

CAUSES OF HEMOPHILIA : 

In these cases a mutation or change has occurred in the factor VIII or factor IX gene From the time of the mutation, the affected person can transmit the defective gene to his or her children CAUSES OF HEMOPHILIA

COMMON CHARACTERISTICS/SYMPTOMS : 

Vary depending on how deficient you are in clot-forming proteins (clotting factors) If levels of your deficient clotting factor are very low, you may experience spontaneous bleeding If levels of your deficient clotting factor are slightly to moderately low, you may bleed only after surgery or trauma Common characteristics/symptoms of spontaneous bleeding may include: Many large or deep bruises Joint pain and swelling caused by internal bleeding COMMON CHARACTERISTICS/SYMPTOMS

COMMON CHARACTERISTICS/SYMPTOMS : 

Unexplained bleeding or bruising Blood in your urine or stool Prolonged bleeding from cuts or injuries, or after surgery or tooth extraction Nosebleeds with no obvious cause Tightness in your joints Emergency signs and common characteristics/symptoms of Hemophilia may include: Sudden pain, swelling, and warmth of large joints, such as knees, elbows, hips and shoulders, and of the muscles of your arms and legs COMMON CHARACTERISTICS/SYMPTOMS

COMMON CHARACTERISTICS/SYMPTOMS : 

Bleeding from an injury, especially if you have a severe form of Hemophilia Painful, lasting headache Repeated vomiting Extreme fatigue Neck pain Double vision COMMON CHARACTERISTICS/SYMPTOMS

PROBLEMS CAUSED BY HEMOPHILIA : 

Internal bleeding resulting from Hemophilia may lead to several health problems, including the following: Joint deformity – can be a severe, disabling consequence of Hemophilia if joint bleeds are not promptly and adequately treated Bleeding in a joint can cause scarring in the joint With repeated bleeds, the joint may lose mobility and become susceptible to further bleeding The knee, ankle, and elbow joint are most commonly affected Bleeding into the muscles of the legs can also be severely disabling Blood in the urine – may occur on occasion, due to bleeding within the kidneys PROBLEMS CAUSED BY HEMOPHILIA

PROBLEMS CAUSED BY HEMOPHILIA : 

Bleeding into the throat – if not promptly treated, it can interfere with breathing so much that a patient may need to be put onto a ventilator until bleeding stops and swelling goes down Bleeding into the brain – may cause permanent brain damage and disability or even death While usually caused by trauma, in very severe cases of Hemophilia, these areas may bleed without known injury PROBLEMS CAUSED BY HEMOPHILIA

EDUCATIONAL IMPLICATIONS : 

Inform administration and other teachers in case of an emergency/ develop a school emergency plan Make sure to inform physical education teachers that activities such as swimming, bicycle riding, and walking can build up muscles while protecting joints, but contact sports, like football, hockey, and wrestling are not safe for Hemophiliacs Help student avoid certain medications, like Aspirin and nonsteroidal anti-inflammatories (like Advil and Motrin) because they can aggravate bleeding Instead, use acetaminophen (Tylenol), which is a safe alternative for mild pain relief EDUCATIONAL IMPLICATIONS

EDUCATIONAL IMPLICATIONS : 

Try to keep classroom clear of furniture with sharp corners and keep sharp objects out of reach or locked away Allow time for student to participate in physical therapy If possible, allow child’s doctor to train you to perform infusions of desmopressin or of the clotting factor so time spent in the hospital away from school is limited, as well as, side effects such as damage to joints Have plan to get homework to child when he/she is ill or in the hospital Give audio or videotapes of missed classes EDUCATIONAL IMPLICATIONS

AGENCIES AND SUPPORT GROUPS : 

Hemophilia and Bleeding Disorders of Alabama, Inc. 151 Market Place, Montgomery, AL, 36117 Phone: 334-277-9446 www.hbda.us National Hemophilia Foundation www.hemophilia.org World Federation of Hemophilia www.wfh.org AGENCIES AND SUPPORT GROUPS

RESOURCES : 

http://www.mayoclinic.com/health/hemophilia/DS00218 http://www.webmd.com/a-to-z-guides/understanding-hemophilia-basics RESOURCES