Symptoms and Signs of Hemophilia

Doctor's Notes on Hemophilia

Hemophilia is an inherited (most often in males) bleeding disorder that has two forms (A and B). The blood will not clot normally, and bleeding may occur spontaneously or following injury. Signs and symptoms can start early in toddlers who bleed or bruise excessively after falls. Some will have blood in the urine without infection. Other signs and symptoms may include

• joint pain,
• joint swelling with warmth,
• nosebleeds, and
• hematomas in tissues.

Severe symptoms may occur if bleeding occurs in the brain (intense headache, nausea, vomiting, seizures, coma, and death). Bleeding into the spinal column may result in backache and paralysis.

The cause of both hemophilia A and B types are due to abnormalities in the X chromosome, so males are primarily affected. Women have two X chromosomes, so in most women, even if they have one defective X chromosome, the other X chromosome functions so they do not get the disease. However, a woman can have a 50% chance of passing the defective X chromosome to her sons and a 50% chance that her daughters will, like her mother, be a carrier of one defective X chromosome.

What Are the Treatments for Hemophilia?

The best way to treat hemophilia, according to the CDC, is to replace the missing blood clotting factor(s). One of the best ways to do this is by consulting with a comprehensive hemophilia center (HCT). A team of specialists can address your problems and determine a treatment program. They can recommend clotting factor products:

• Plasma derived: clotting factors derived from pooled human blood
• Recombinant: genetically made clotting factors
• Other possible treatment products
  • Emicizumab: replaces function of factor VIII
  • Desmopressin acetate: increases factor VIII release
  • Epsilon amino acetate: stabilizes blood clots

The above are treatments best determined by a team of hemophilia specialists.