Hemophilia is a term for a group of rare bleeding disorders. In general, this condition refers to a blood abnormality in which certain proteins that make clotting possible are either missing or work improperly. Without the function of these proteins, also called clotting factors, you may bleed more easily and for a longer time than others—especially following an injury, dental procedure, or surgery. Due to its rarity, hemophilia is usually managed by a hematologist, a doctor who specializes in treating diseases of the blood.
The severity of hemophilia is determined by the level of clotting factor in the blood—the lower the level, the more severe the condition is. Hemophilia is a life-long disorder that can be fatal. In severe cases, you may also be at risk for spontaneous internal bleeding, which can cause joint and organ damage over time.
Incidence
Hemophilia affects all races, ethnic groups, and age populations. Hemophilia predominantly occurs in men. Females very rarely experience symptoms of hemophilia, but they can inherit the gene and carry the disease to their offspring. The Centers for Disease Control and Prevention (CDC) estimates that nearly 20,000 people in the United States are living with hemophilia.
Treatment
There is no cure for hemophilia. Symptoms are best managed by a multidisciplinary team of specialists at a comprehensive hemophilia treatment center. With treatment, most patients are able to live reasonably normal lives. Patients with mild forms of hemophilia may undergo desmopressin (DDAVP) therapy. Desmopressin is a synthetic hormone that stimulates the production of clotting factors. The most common treatments, however, involve supplementing or replacing clotting factors with healthy ones from human donated blood or those made synthetically.
Patients receiving blood transfusions were once at risk for contracting HIV and other serious viruses. The CDC ensures that transfusion safety precautions have improved since the 1990s and that these treatments are safe for hemophilia patients. However, certain vaccinations, such as hepatitis B vaccines, are still recommended.
Types of Hemophilia
There are three main types of hemophilia: A, B, and C. Both hemophilia A and B are inherited through the female, X-linked chromosome. As a result, both A and B types primarily affect males, with females who inherit the gene being carriers. Hemophilia C is transferred through non-sex chromosomes and therefore affects males and females equally.
- Hemophilia A is also called classic hemophilia, and factor VIII deficiency. Classic hemophilia is caused by the absence or defect of clotting factor VIII. It is the most common type, affecting roughly 1 in 5,000 males at birth. The CDC reports that 400 babies are born with classic hemophilia each year.
Most of the time, hemophilia A is diagnosed at a young age. When there is a family history of bleeding disorders, prenatal genetics testing can be performed to determine whether a baby might have hemophilia. The first sign of abnormal bleeding in male babies is often seen shortly after birth, following circumcision, a common surgical procedure during which the foreskin of the penis is trimmed. Usually by the time a toddler sustains minor injuries associated with learning to crawl and walk, hemophilia has become apparent.
- Hemophilia B is also called Christmas disease, royal disease, or Factor IX deficiency. The National Organization for Rare Disorders (NORD) estimates that hemophilia B occurs at birth in 1 in 25,000 males. Like classic hemophilia, it is a genetics disorder inherited from the mother’s sex chromosome and affects males. Mild cases are often not detected until adulthood or following trauma or a surgical or dental procedure.
The term, Christmas disease, has no holiday affiliation. Hemophilia B first appeared in medical literature in the 1950s when a patient named Stephen Christmas was said to have the condition. As a result, the disorder was named after him.
Hemophilia B is also called the "royal disease" because it is known to have descended through the royal bloodline of Queen Victoria of England. Through her descendants, hemophilia affected the monarchal families of Germany, Spain, and Russia.
- Hemophilia C is also called Rosenthal’s disease, plasma thromboplastin antecedent (PTA), and Factor XI deficiency. The National Hemophilia Foundation estimates that Rosenthal’s disease occurs in approximately one in 100,000 people. A person with hemophilia C must inherit the abnormal gene from both parents, which is why is it less common. It affects both males and females alike. Spontaneous internal bleeding is not considered a threat for patients with hemophilia C; the main threat is during surgery or dental procedures. Symptoms are often mild, and include oral and nasal bleeding and blood in the urine.
