Christmas Disease Disease

About Gene:

The second most typical kind of hemophilia is hemophilia B. 1,2 It is often referred to as Christmas disease or factor IX deficiency since factor IX is mutated. In honor of the first patient to receive a diagnosis for the condition back in 1952, it was first known as "Christmas disease."

Number of Patients: 2

Disease Causing Genes:

F9

Sign and Symptoms:

  1. Bleeding into joint
  2. Joint pain
  3. Edema
  4. Blood in urine and stool
  5. urinary tract hemorrhage
  6. nosebleed
  7. gastrointestinal tract hemorrhage

Diagnosis:

(1) Medical history collection (2) Physical examination (3) Nervous system examination (4) Coagulation factor test (5) Erythrocyte sedimentation rate (6) Hemoglobin test (7) Platelet count blood test

Preventions:

Treatment: