Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood- clotting proteins. If you have hemophilla, you may bleed for longer time after an injury than you would if your blood clotted normally. It is an inherited (genetic) disorder. There's no care yet. But with proper treatment and self care, most people with hemophilia can maintain an active, productive lifestyle.
Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting factor level is midly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding.
Signs and symptoms of spontaneous bleeding include:
- Unexpected and excessive bleeding from cuts or injuries, or after surgery or dental work
- Many large or deep bruise
- Unusual bleeding after vaccinations
- Pain, swelling or tightness in your joints
- Blood in your urine or stool
- Nosebleeds without a known cause
- In infants, unexpected irritability
Emergency signs and symptoms of hemophilia include:
- Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles
- Bleeding from an injury, especially if you have a severe form of hemophilia
- Painful, prolonged headache
- Repeated vomiting
- Extreme fatigue
- Neck pain
- Double vision
When you bleed, your body normally pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles (platelets and plasma proteins). Hemophilia occurs when you have a deficiency in one of these clotting factors.
Hemophilia is inherited. However, about 30 percent of people with hemophilia have no family history of the disorder. In these people hemophilia is caused by a genetic change (spontaneous mutation).
There are several types of hemophilia. They are classified according to which clotting factor is deficient:
- Hemophilia A, the most common type, is caused by insufficient clotting factor VIII.
- Hemophilia B, the second most common type, is caused by insufficient clotting factor IX.
- Hemophilia C, in which signs and symptoms are often mild, is caused by insufficient clotting factor XI.
Everyone has two sex chromosomes, one from each parent. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father.
Hemophilia inheritance depends on your type of hemophilia:
- Hemophilia A or B. The gene that causes them is located on the X chromosome, so it can't be passed from father to son. Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.
- Hemophilia C. This disorder can be passed on to children by either parent. Hemophilia C can occur in girls and boys.
For people with a family history of hemophilia, it's possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risk to the fetus. Discuss the benefits and risks of testing with your doctor.
In children and adults, a blood test can show a clotting factor difiency. Hemophilia is diagnosed at an average age of 9 months and almost always by age 2. Sometimes, mild hemophilia isn't diagnosed until a person undergoes surgery and experiences excessive bleeding.
People with a family history of hemophilia can learn their risks of passing hemophilia to their children. A simple blood test is usually all that is necessary.
People with hemophilia should take steps to avoid injuries, accidents and excessive strain on the joints. This can help to prevent episodes of bleeding. For example:
An infant with hemophilia should have appropriate padding in his crib or playpen.
A toddler with hemophilia should be supervised as he learns to walk.
A school-age child with hemophilia should avoid contact sports and activities that have a high risk of trauma.
People with hemophilia may need a blood transfusion at some point. They should get immunized against hepatitis A and B, diseases that can be carried in blood products.
People with hemophilia must avoid aspirin and other medications that affect blood clotting.
Risk factors for Hemophilia are factors that do not seem to be a direct cause of the disease, but seem to be associated in some way. Having a risk factor for Hemophilia makes the chances of getting a condition higher but does not always lead to Hemophilia. Also, the absence of any risk factors or having a protective factor does not necessarily guard you against getting Hemophilia.
- Damage to the joints, including the knees, elbows, and ankles.
- Damage to muscles, which can cause significant pain and scarring.
- Severe anemia from blood loss.
- Blood in the urine (hematuria). While this is a common condition for people who have hemophilia, it usually is not dangerous when it is treated appropriately. Blood clots that form in the urethra can cause sharp pain in the lower part of the belly because urine flow out of the bladder is blocked.
- Bleeding in the digestive system, most often noticed in vomit or in the stool. Blood in the digestive system may sometimes cause vomit that looks like coffee grounds or give a black and tarry appearance to the stool. If enough blood is lost, you might have symptoms of anemia, such as lightheadedness, weakness, and fatigue.
- Bleeding inside the head (intracranial hemorrhage). Often a result of a head injury, this is very dangerous because it may cause brain damage and death.
- Compartment syndrome, a rare complication that develops when bleeding in the muscle puts pressure on arteries and nerves inside the muscle. This syndrome can cause serious damage to the limb.
While there's no cure for hemophilia, most people with the disease can lead fairly normal lives.
Treatment for bleeding episodes
Therapies to stop bleeding depend on the type of hemophilia:
- Mild hemophilia A. Slow injection of the hormone desmopressin (DDAVP) into a vein can stimulate a release of more clotting factor to stop bleeding. Occasionally, DDAVP is given as a nasal medication.
- Moderate to severe hemophilia A or hemophilia B. Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor derived from donated human blood. Repeated infusions may be needed if internal bleeding is severe.
- Hemophilia C. Clotting factor XI, the factor missing in this type of hemophilia, is available only in Europe. In the United States, plasma infusions are needed to stop bleeding episodes.
Your doctor may recommend:
- Regular infusions of DDAVP or clotting factor. The infusions can help prevent bleeding. This approach may reduce time spent in the hospital and limit side effects such as damage to joints. Your doctor can show you how to perform the infusions.
- Clot-preserving medications (antifibrinolytics). These medications help prevent clots from breaking down.
- Fibrin sealants. These medications can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful in dental therapy.
- Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. If internal bleeding has caused severe damage, you may need surgery.
- First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.
- Vaccinations. Although blood products are screened, it's still possible for people who rely on them to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.
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मेरो छोरा को घाटी भन्दा तला छाती भन्दा माथी सानो पिम्पल जस्तो सानो एकदम सानो छ यो. निचोर्दा थोरै डन्दिफोर को जस्तो सेतो फोहोर आउच अहिले पहिले चाइ निचोर्दा सराइ गनाउथ्यो पिप आउथ्यो सयद keहो थाह भएन / हामिले थाह पाउदा ९ महिना को थ्यो मेरो छोरा . भित्र सानो गिर्खा जस्तो अहिले मेरो छोरा ५ बर्ष को भयो दुख्योत भनेको छैन । तर हामीलाई धेरै डर लागी रहेको छ । अहिले अलिकती बढेको जस्तो छ जस्तो लाग्छ । एस्तो अवस्था मा कस्तो उपचार गर्ने ? कि अप्रेसन नै गर्नु पर्छ ? अप्रेसन गर्दा धेरै डर लाग्दो हुन्छ कि सामन्य हुन्छ ? पुरै बिहोस गर्नु पर्छ कि बिहोस नगरि हुन्च ? एस्तो कुरा हरुले हामी घर को सबै जान डिप्रेसन मा जान लागि सकेउ डाक्टर साब । कृपाय झार्को नमनी उत्तर दिनु भए धेरै आभारी हुने थिएउ
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