Hemophilia: Treatment, Nutrition, and Essential Medical Information

When we get a cut, such as on our finger, blood gushes from the wound. However, after a short while, depending on the depth of the cut, the bleeding stops on its own or with some pressure. When we get a strong blow, we may see bruising, indicating internal bleeding at the site of the impact. Yet, this bruise is limited in size, as the bleeding naturally stops.

But what happens if it doesn’t?

Meet Hemophilia (Unpleasant): What is Hemophilia?

The substance that causes bleeding to stop is a protein containing clotting factors. These factors cause the blood to clot following an injury, sealing the wound so that blood stops flowing from the blood vessels, whether from an external or internal injury.

In people with hemophilia, one of the clotting factors is missing. So, when someone with hemophilia is injured, whether externally or more commonly internally, the bleeding continues, and it takes a long time for the blood to clot and the bleeding to stop. In cases of severe injuries, like surgery or head trauma, without proper treatment, excessive and prolonged bleeding can damage organs or even result in death.

Indeed, in the past, people with hemophilia often died young, commonly due to internal injuries. Hemophilia has been recognized for many years and is even mentioned in the Talmud in Yevamot, where parents whose two children died from bleeding following circumcision were advised not to circumcise their third son.

There are rare cases where hemophilia is caused by an autoimmune disease, but most cases are congenital and hereditary, due to a defect in the gene responsible for producing the clotting factor.

A few words about heredity: Every person has two sets of DNA, called chromosomes. Women have two X chromosomes, while men have an X and a Y chromosome. The gene responsible for clotting factor production is on the X chromosome. If someone has one normal X chromosome, they won't get the disease. Therefore, men have a higher chance of having the disease since they have only one X chromosome. A man with hemophilia will not automatically pass it to his sons, but his daughters will be carriers, having one defective and one normal X chromosome. When the mother is a carrier of hemophilia, each son has a 50% chance of inheriting the defective gene and developing hemophilia, and daughters have a 50% chance of being carriers. If both the father and mother carry the trait, their daughters have a 50% chance to develop the disease, though such situations are rare, as two defective genes are needed. Therefore, hemophilia is considered a "male disease."

Hemophilia is divided into two main types. Hemophilia A, the more common type, is due to a deficiency of factor 8, with a prevalence of one in 5,000 males. Hemophilia B is due to a deficiency of factor 9, with a prevalence of one in 30,000 males.

As mentioned, most bleeding due to hemophilia is internal. The most common bleedings are into joints—knees, elbows, ankles, etc.—or into internal organs and tissues. If untreated, joint bleeding can cause swelling and stiffness and eventually damage the cartilage and bones, leading to significant orthopedic issues. Bleeding in areas like the head or abdomen can cause life-threatening conditions.

Diagnosis: How Do I Know If I Have Hemophilia?

In Jews, hemophilia is often discovered when a baby is eight days old and undergoes circumcision, showing excessive and persistent bleeding. For those who do not undergo circumcision, the disease may be discovered during childhood. The more severe the condition, the earlier it tends to be diagnosed. The severity is determined by the level of clotting factor deficiency—those with mild hemophilia have a partial deficiency, while severe cases have a significant deficiency or absence of the factor.

Hemophilia is suspected when a child frequently shows bruises, experiences repeated nosebleeds, prolonged bleeding from minor wounds, or when joint swelling occurs, particularly in knees and elbows, indicating frequent internal bleeding in these areas.

Precise diagnosis initially involves a simple blood test checking platelet count and other measures like prothrombin time (PT) and thromboplastin time (PPT), indicating how long it takes for blood to clot.

If these blood values are disturbed, another special test is performed in a coagulation laboratory to determine which clotting factor is missing and to what extent. Hemophilia can appear in a mild form, with more than 5% of the clotting factor activity, a moderate form with 2-5% activity, or a severe form with 1% activity or less. In mild cases, hemophilia often becomes apparent only during a significant injury. In severe cases, spontaneous bleeding can occur, even from a very minor injury or without any injury at all.

So, I Have Hemophilia. What Now?

As mentioned, without proper treatment, life expectancy for people with hemophilia was relatively short, depending on the severity of their condition. However, in recent decades, the possibility of receiving an infusion or injection of the missing clotting factor has been developed. The clotting concentrates are made from blood donations—or actually, plasma donations—that are thoroughly cleansed to remove various types of contamination and enriched with the necessary clotting factor. Previously, when factor concentrates were first developed, patients often contracted other blood-transmitted diseases like HIV or hepatitis. Therefore, recent research has focused on cleaning and purifying plasma samples, and currently, there are no known cases of diseases transmitted through the concentrates.

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Patients with mild hemophilia use these concentrates locally, which means they can self-inject the concentrate when they are significantly injured, to aid proper clotting. Severe hemophilia patients receive regular infusions of these concentrates, even without an actual injury, to maintain their health and prevent severe internal or external bleeding events.

When a wound or injury occurs, it must be treated as quickly as possible, and the clotting factor must be injected rapidly to prevent severe organ damage or life-threatening situations.

In children, there is a common situation where they do not report every injury or suspicion of bleeding, either due to fear of injection or feelings of guilt or embarrassment. Therefore, it is especially important to pay attention to warning signs indicating internal bleeding. Joint bleeding presents as joint swelling, and sometimes the area becomes warm to touch. The area can be painful during movement, and children may hold the affected joint, start limping, or begin to crawl. In such a situation, it is important to treat quickly with a clotting factor infusion, and in severe cases, it is recommended to go to the hospital for appropriate treatment.

In cases where bleeding in the abdomen or throat is suspected, urgent hospital treatment is mandatory. The same goes for brain bleeding, which can develop, in severe cases, without a visible cause. Symptoms of brain bleeding include severe headache, vomiting, drowsiness, stiff neck, weakness, walking difficulty, double vision, seizures, and behavioral changes. If several of these symptoms appear, urgent hospital care is needed.

Physical Activity: What Can I Do and What Should I Avoid?

In general, people with hemophilia should be more cautious about physical injury than others. However, doctors recommend regular physical activity to strengthen the body and help cope with the disease and its symptoms.

Therefore, the recommendation for hemophilia patients is to avoid contact sports like soccer and other sports where direct injuries are common. However, they can enjoy non-contact sports activities such as swimming, running, and many other important activities that contribute to health.