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Christmas disease
Also called hemophilia B or factor IX hemophilia, is a rare genetic disorder in which your blood doesn’t clot properly. If you have Christmas disease, your body produces little or no factor IX. This leads to prolonged or spontaneous bleeding. The less factor IX your body produces, the worse your symptoms are. Without treatment, Christmas disease can be fatal.
Symptoms:
- Prolonged bleeding, such as can occur during circumcision, after surgical procedures or tooth extractions, or from cuts or other wounds
- Unexplained, excessive bruising or prolonged nosebleeds
- Unexplained blood in the urine or feces caused by internal bleeding in the gastrointestinal or urinary tract
- Internal bleeding that pools in the joints, which causes pain and swelling
Preliminary plan:
- General practitioner appointment
- Complete blood count (CBC)
- Reticulocyte count
- Urinalysis
- Blood group + RhD
- Stool analysis - Protozoans and Helminths (microscopy)
- Blood test:
- Latent iron-binding capacity
- Iron
- Vitamin B12 (cyanocobalamin)
- Transferrin
- Ferritin
- Folic acid (folates)
- Potassium Sodium Chlorine (K, Na, Cl) (blood)
- Urea (BUN)
- Creatinine
- Glucose
- Cholesterol
- Triglycerides
- Alkaline phosphatase (ALP)
- Alanine transaminase (ALT)
- Bilirubin (total, direct)
- Blood clotting test:
- Prothrombin ratio (PR) / International normalized ratio (INR)
- Fibrinogen
- Thrombin time
- aPTT
- Antithrombin III (AT-III)
- D-dimer
- Lupus anti-coagulant
- Protein C
- Protein S, free
- Coagulogram