What are the symptoms of rare blood disorders?

Symptoms depend on the type and extent of disease. In many cases, symptoms don’t develop until the disorder has advanced.

General symptoms of histiocytosis include:

  • Pain
  • Fever
  • Frequent urination
  • Rash

Symptoms of PNH include:

  • Dark urine
  • Anemia
  • Fatigue
  • Rapid heartbeat
  • Headaches
  • Blood clots

General symptoms of myeloproliferative diseases include:

  • Anemia
  • Fever
  • Fatigue
  • Night sweats
  • Unintentional weight loss

How are rare blood disorders diagnosed?

The diagnostic process varies for each type of rare blood disorder and may include:

  • Blood tests. These reveal abnormal blood cell counts and show if blood cells are shaped or sized abnormally.
  • Bone marrow aspiration or biopsy. These tests look at a sample of liquid bone marrow or solid bone marrow to confirm a diagnosis of histiocytosis or myeloproliferative disease. Your doctor obtains a bone marrow sample with a special needle that is typically inserted into the hip bone. A local anesthetic is used to numb the site of the procedure.
  • Imaging tests. Histiocytosis can cause tumors to develop on bone. X-ray imaging, CT scans or MRI can reveal these.
  • Tumor biopsy. Histiocytosis can also cause small tumors to form on the skin or in the mouth. This test examines a sample of tumor tissue to confirm a diagnosis.
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