All About the Royal Disease- Hemophilia

All About the Royal Disease — Hemophilia

Hemophilia is known as the “Royal Disease” because Queen Victoria carried a spontaneous mutation causing the blood disorder, which was passed to three generations of the British Royal family. In India, more than 1.36 lakh individuals have hemophilia — making awareness, early diagnosis, and genetic counselling critically important.

What Is Hemophilia?

Hemophilia is caused by mutations in the F8 (Factor VIII) or F9 (Factor IX) genes, which provide instructions for making clotting factor proteins essential for blood clotting. When these proteins are absent or deficient, the blood cannot clot properly, causing prolonged bleeding and painful swelling of the joints.

Types of Hemophilia

• Hemophilia A (Classic Hemophilia) — caused by deficiency of clotting Factor VIII; worldwide occurrence approximately 1 in 5,000 males

• Hemophilia B (Christmas Disease) — caused by deficiency of clotting Factor IX; less common than Hemophilia A

Genetics of Hemophilia

The F8 and F9 genes are located on the X chromosome, making hemophilia an X-linked recessive condition. Since males have only one X chromosome, a single mutated copy causes the disease. Females with one mutated copy are carriers — they typically do not have the disease but can pass the mutation to their children. There is a 50% chance that a carrier mother’s son will have hemophilia, and a 50% chance that her daughter will be a carrier.

Signs and Symptoms

• Unexplained and excessive bleeding from cuts, injuries, or after surgery or dental work

• Large or deep bruises

• Pain, swelling, or tightness in joints (haemarthrosis)

• Blood in urine or stool

• Nosebleeds without a known cause

• Unusual bleeding after vaccinations

Diagnosis and Treatment

Diagnosis involves blood tests measuring clotting factor levels, confirmed by genetic testing. Treatment includes clotting factor replacement therapy (infusions of Factor VIII or IX), and newer options including extended half-life factor products and non-factor therapies. Gene therapy for hemophilia is an active area of research with promising early results.