ROYAL DISEASE (HAEMOPHILIA)

Have you ever heard the name "Royal Disease"? Here is a short story. Hemophilia has been called the Royal Disease because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Her daughters passed the mutated gene on to members of the royal families of Germany, Spain, and Russia. Alexandra, Queen Victoria's granddaughter, who became Tsarina of Russia in the early 20th century when she married Tsar Nicholas II, was a carrier. Their son, the Tsarevich Alexei, suffered from hemophilia.

Hemophilias are disorders of blood clotting and as a result may lead to serious bleeding.
In the majority of cases, these disorders are hereditary.
This may result in both spontaneous bleeding and bleeding after injury or surgery.

Due to the X-linked recessive genetic pattern of inheritance for hemophilia A and B, males are often affected whereas females are typically carriers of the condition.

X-linked inheritance

Although it is much rarer, a girl can have hemophilia, but she would have to have the defective gene on both of her X chromosomes or have one hemophilia gene plus a lost or defective copy of the second X chromosome that should be carrying the normal genes.

For those with severe hemophilia, the average age upon diagnosis is one month, for those with moderate hemophilia, eight months, and for those with mild hemophilia, 36 months.

There are three types of hemophilia, determined based on which clotting factor is deficient: hemophilia A (factor VIII), hemophilia B (factor IX), and hemophilia C (factor XI). All types result in impaired secondary hemostasis

NOSE BLEED

Symptoms include excessive bleeding from any site in the body; long-term damage to joints from repeated bleeding episodes is characteristic.
Note: Petechial bleeding is a common sign of platelet disorders, but NOT of coagulation disorders such as hemophilia.

Therapy involves the replenishment of coagulation factors.
A major treatment consequence is the development of inhibitors to the therapy factor concentrates.
Treatments using gene therapy are the subject of ongoing study and show promise for the future.

REFERENCE

• CDC
• HAEMATOLOGY JOURNAL