Hemophilia (ER Story)

A few days ago, when Collin’s mom changed his diaper, “she noticed that his knee looked a little swollen and maybe a little discolored,” says Dr. Kathleen Nelson, professor of pediatrics.

His mom shows the doctor in the emergency room. “He won’t let you straighten it. It’s warmer,” she says.

Since birth, the slightest bump causes this 9-month-old to bruise, bleed or swell. Collin has hemophilia. Hemophiliacs lack clotting factors, proteins that help stop bleeding, in their blood.

Dr Nelson explains, “And what normally in most kids results in just a little discoloration or a little bump, might actually be a much more serious injury in a child who can’t clot his blood.”

In the emergency room, the doctor and the boy’s mom discuss just how low Collin’s levels are. “And you say he’s at 1 percent?” asks the doctor. “He’s no higher than 2 percent,” says his mom.

In other words, Collin has 2 percent of the amount of clotting protein that normal people have. His hemophilia is severe.

“The most serious complication would be if he were to bleed into his brain. And certainly he’s getting to the age where he’s a toddler. And when you toddle around, you’re going to fall,” says Nelson.

Today (and every time he gets hurt) the treatment is an IV of synthetic clotting factor. Now and for years to come the goal is the same: Keep him safe.

“As he grows up the family is gonna need to protect him from injury,” says Nelson.

Collin inherited the disease from his mom. Dr. Nelson says, “In fact her family had at one time been accused of child abuse because she looked like she was so beat up.”

She’s learned to live with the disease. And now she will have to teach her son.

Hemophilia is a genetic disorder that causes a person’s blood to not clot properly – “hemo” means “blood” and “philia” means “a tendency toward.” A person who has hemophilia has a tendency to bleed excessively.

The human body has 12 clotting factors that function together, with each being named using Roman numerals. There are two types of hemophilia: Hemophilia A and Hemophilia B. The type is determined by the clotting factor that is deficient. Patients are classified as mild, moderate or severe, based on the amount of clotting factors present in the blood. Patients with severe cases usually receive regular shots of the factor that they’re missing to prevent bleeding episodes. Those with moderate or mild hemophilia often don’t need these shots unless they have a more serious injury or undergo surgery.

Although not named until 1828, hemophilia has been documented since biblical times. O ften it is called the “Royal Disease” because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. She passed the disease on to the Spanish, German and Russian royal families through her daughters, Alice and Beatrice. Queen Victoria’s granddaughter, Alexandra, married Nicholas, who was the Tsar of Russia during the early 1900s. Their first son, Alexei, was a hemophiliac. A monk named Rasputin became very influential within the Russian court, in part because he was the only one able to relieve Alexei’s pain. He used hypnosis on the heir to the throne; it’s thought this practice not only relieved Alexei’s pain, but also may have slowed or stopped his brain hemorrhages. Alexei’s illness and the strain it placed on the royal family, coupled with the power wielded by the mad monk Rasputin, contributed to the Russian Revolution of 1917.

Consider the following:

• About 17,000 people in the United States have hemophilia. The disease affects an estimated 400,000 people worldwide.
• About one in every 8,000 American boys is born with hemophilia.
• Hemophilia A is sometimes called factor VIII deficiency. It is the cause of about 80 percent of hemophilia cases.
• Hemophilia B is a deficiency of factor IX and comprises most of the remaining 20 percent of cases.
• Hemophilia B is also called “Christmas disease” after Stephen Christmas, the British boy who was first diagnosed with it.
• Most children in the United States who begin regular infusions early in life will exhaust the average lifetime insurance limit of $1,000,000 by their 20s.
• A person with hemophilia does not bleed faster than anyone else, but bleeding may last longer.
• April 17 is World Hemophilia Day.

Hemophilia mostly affects boys because the disease is an X-linked genetic disorder, passed from mother to son. Boys receive an X chromosome from their mother and a Y chromosome from their father. If a mother carries the gene for hemophilia on one of her X chromosomes (females have two X chromosomes), her son will have a 50 percent chance of having hemophilia. Her daughter will have a 50 percent chance of becoming a carrier of hemophilia; as a carrier, it’s possible that this daughter’s future son could have hemophilia and her daughter could carry the disease. A male can’t pass the gene for hemophilia to his sons, but all of his daughters will be carriers. A female can have hemophilia in the rare instance that her father has the disorder and her mother is a carrier. About one-third of hemophiliacs did not inherit the disease; instead the cause was a spontaneous change in the person’s own genes.

In general, symptoms of hemophilia include: prolonged nosebleeds, excessive bleeding from biting down on the lips or tongue, excessive bleeding following a tooth extraction, excessive bleeding following surgery and blood in the urine (hematuria). Once they begin crawling, signs of hemophilia in babies include swelling in the joints and raised bruises on the stomach, chest, buttocks and back. These bruises can surface in unlikely spots, sometimes raising a suspicion of child abuse before hemophilia is diagnosed. A set of blood tests can diagnose hemophilia.

When a hemophiliac is in infancy, parents should install bumper pads in the crib, cushion any sharp edges of furniture and use baby gates across stairs. Special knee and elbow pads can offer protection against joint bleeds when the baby is learning to crawl and walk. In a house with ceramic tile or hardwood floors, installing carpet or adding area rugs can soften the floor surface.

Heavy contact sports like wrestling, football and hockey can be dangerous and are generally not safe for hemophiliacs. However sports like swimming, running and bicycling are encouraged because exercise makes muscles stronger, which protects the joints and makes bleeds less frequent.

• Hemophilia is a lifelong condition with no cure, but it can be successfully managed with medical treatment. A hemophiliac will not bleed to death from a minor cut or injury.
• Even kids with severe hemophilia can live long and healthy lives.
• The toddler and teenage years will likely be the most challenging for a hemophiliac because these periods most focus on a child’s natural quest for independence.
• Children with hemophilia can generally sense when a bleed has occurred. They often describe a tingly or bubbly sensation in a joint. It may also feel warm to the touch. Encourage your child to tell you when he or she senses a bleed since a quick infusion is key to preventing long-term damage.
• It’s important that your child’s dentist has experience with hemophilia. This will make it easier for the dentist to respond to any bleeding.
• Hemophiliacs should not take aspirin, ibuprofen or naproxen sodium because these medicines can affect blood platelets and lead to increased bleeding . Acetaminophen (such as Tylenol) can be used.
• Without adequate treatment, many people with hemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia.
• Click here to Visit for more tips on rearing a hemophiliac.

KidsHealth.org
National Hemophilia Foundation
World Federation of Hemophilia