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Haemophilia, also spelled hemophilia, is an X-linked, recessive inherited genetic disorder that impairs the body’s ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.

There are two main types of haemophilia:

There are two main types of haemophilia: haemophilia A, which occurs due to not enough clotting factor VIII, anti-hemophilic factor (AHF) and haemophilia B, which occurs due to not enough clotting factor IX  (Christmas factor).

Haemophilia has featured prominently in European royalty and thus is sometimes known as ‘the royal disease‘. Queen Victoria passed the mutation for haemophilia B to her son Leopold and, through two of her daughters, Alice and Beatrice, to various royals across the continent, including the royal families of Spain, Germany, and Russia. In Russia, Tsarevich Alexei, the son and heir of Tsar Nicholas II, famously suffered from haemophilia, which he had gotten from his mother, Empress Alexandra, one of Queen Victoria’s granddaughters. The haemophilia of Alexei would result in the rise to prominence of the Russian mystic Grigori Rasputin, at the imperial court.

It was claimed that Rasputin was successful at treating Tsarevich Alexei’s haemophilia. At the time, a common treatment administered by professional doctors was to use aspirin, which worsened rather than lessened the problem. It is believed that, by simply advising against the medical treatment, Rasputin could bring visible and significant improvement to the condition of Tsarevich Alexei.

In Spain, Queen Victoria’s youngest daughter, Princess Beatrice, had a daughter Victoria Eugenie of Battenberg, who later became Queen of Spain. Two of her sons were haemophiliacs and both died from minor car accidents. Her eldest son, Prince Alfonso of Spain, Prince of Asturias, died at the age of 31 from internal bleeding after his car hit a telephone booth. Her youngest son, Infante Gonzalo, died at age 19 from abdominal bleeding following a minor car accident in which he and his sister hit a wall while avoiding a cyclist. Neither appeared injured or sought immediate medical care and Gonzalo died two days later from internal bleeding.

Diagnosis

Examination in patients with hemophilia B may reveal the following signs of hemorrhage:

  • Systemic: Tachycardia, tachypnea, hypotension, and/or orthostasis
  • Musculoskeletal: Joint tenderness, pain with movement, decreased range of motion, swelling, effusion, warmth
  • Neurologic: Abnormal findings, altered mental status, meningismus
  • Gastrointestinal: Can be painless or present with hepatic/splenic tenderness and peritoneal signs
  • Genitourinary: Bladder spasm/distention/pain, costovertebral angle pain
  • Other: Hematoma leading to location-specific signs (eg, airway obstruction, compartment syndrome)
 Laboratory studies for suspected hemophilia B include the following:
  • Complete blood cell count: Normal or low hemoglobin/hematocrit levels; normal platelet count
  • Coagulation studies: Do not delay coagulation correction pending test results; normal bleeding and prothrombin times; normal or prolonged activated partial thromboplastin time
  • Factor IX (FIX) assay: Mild disease, result is over 5%; moderate, 1-5%; severe, below 1%
  • von Willebrand factor (vWF) and factor VIII levels: To exclude vWF deficiency as primary diagnosis (low vWF and low FVIII)
  • Screening tests for HIV and hepatitis
  • Genetic carrier and fetal testing

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