Hemophilia A is a hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to stop bleeding.
Blood clots (fibrin clots) are the clumps that result when blood coagulates.
Hemophilia A is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome. Females have two copies of the X chromosome, so if the factor VIII gene on one chromosome doesn't work, the gene on the other chromosome can do the job of making enough factor VIII. Males, however, have only one X chromosome, so if the factor VIII gene on that chromosome is defective, they will have hemophilia A. Thus, most people with hemophilia A are male.
If a woman has a defective factor VIII gene, she is considered a carrier. This means the defective gene can be passed down to her children. In a woman who carries the defective gene, any of her male children will have a 50% chance of having hemophilia A, while any of her female children will have a 50% chance of being a carrier. All female children of men with hemophilia carry the defective gene. Genetic testing is available for concerned parents.
Risk factors for hemophilia A include:
Family history of bleeding
Being male
Rarely, adults can develop a bleeding disorder similar to hemophilia A. This may happen after giving birth (postpartum), in people with certain autoimmune diseases such as rheumatoid arthritis, in people with certain types of cancer (most commonly lymphomas and leukemias), and also for unknown reasons (called "idiopathic"). Although these situations are rare, they can be associated with serious, even life-threatening bleeding.
The severity of symptoms vary. Bleeding is the main symptom of the disease and sometimes, although not always, occurs if an infant is circumcised.
Additional bleeding problems are seen when the infant starts crawling and walking.
Mild cases may go unnoticed until later in life when they occur in response to surgery or trauma. Internal bleeding may happen anywhere, and bleeding into joints is common.
Symptoms may include:
Bleeding into joints, with associated pain and swelling
If the patient is the first person in the family to have a suspected bleeding disorder, he or she will undergo a series of tests called a coagulation study. Once a disorder has been identified, other family members will need less testing to diagnose the disorder.
Standard treatment involves replacing the missing clotting factor. The amount of factor VIII concentrates needed depends on the severity of the bleeding, the site of the bleeding, and the size of the patient.
Mild hemophilia may be treated with desmopressin (DDAVP), which helps the body release factor VIII that is stored within the lining of blood vessels.
To prevent a bleeding crisis, people with hemophilia and their families can be taught to give factor VIII concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular preventive treatment.
Depending on the severity of the disease, DDAVP or factor VIII concentrate may be given before having dental extractions or surgery in order to prevent bleeding.
Immunization with hepatitis B vaccine is necessary because of the increased risk of exposure to hepatitis due to frequent blood infusions.
Patients who develop an inhibitor to factor VIII may require treatment with other clotting factors such as factor VIIa, which can help with clotting even without any factor VIII.
The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives.
Patients with hemophilia should establish regular care with a hematologist, especially one who is associated with a hemophilia treatment center. The ability to have quick and easy access to medical records documenting the patient's history of factor IX levels, factor transfusions (including the type and amount), complications, and amount of any inhibitors can be lifesaving in the event of an emergency situation.
Chronic joint deformities may occur from bleeding into joints. This complication can be managed by an orthopedic specialist. However, joint replacement may be needed.
Intracerebral hemorrhage is another possible complication.
Repeated transfusions may slightly raise the risk for HIV and hepatitis , however, continued improvements in blood screening procedures makes blood products safer than ever.
Primary hemochromatosis is a genetic disorder passed down through families. It occurs at birth. People with this condition absorb too much iron through their digestive tract. Iron builds up in the body, especially the liver. You are more likely to get this disease if someone else in your family has or had the condition.
Secondary (acquired) hemochromatosis is due to other blood-related disorders (such as thalassemia or certain anemias) or many blood transfusions. Sometimes it occurs in people with long-term alcoholism and other health conditions.
Hemochromatosis affects more men than women. It is particularly common in Caucasians of western European descent.
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Hepatomegaly is enlargement of the liver beyond its normal size. Certain conditions such as infection, parasites, tumors, anemias, toxic states, storage diseases, heart failure, congenital heart disease, and metabolic disturbances may all cause an enlarged liver.
The goal of treatment is to remove excess iron from the body and treat any organ damage.
A procedure called phlebotomy is the best method for removing excess iron from the body.
One-half liter of blood is removed from the body each week until the body iron level is normal. This may take many months or even years to do.
After that, the procedure may be done less often to maintain normal iron levels.
How often you need this procedure depends on your symptoms and your levels of hemoglobin and serum ferritin, and how much iron you take in your diet.
Testosterone hormone therapy can help improve the loss of sexual desire and changes in secondary sexual characteristics. Diabetes, arthritis, liver failure, and heart failure should be treated as appropriate.
If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed from your digestive tract. Your doctor or nurse will recommend:
Do not drink alcohol, especially if you have liver damage
Do not take iron pills or vitamins containing iron
Do not use iron cookware
Do not eat raw seafood (cooked is fine)
Do not eat foods fortified with iron, such as 100% iron breakfast cereals
Untreated, iron overload can lead to liver damage.
Extra iron may also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes.
How well you do depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.
Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.
