What Is a Rare Blood Disease?

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  • Written By: Maggie J. Hall
  • Edited By: Susan Barwick
  • Last Modified Date: 06 November 2019
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A rare blood disease affects some component of the blood and is not often seen by physicians. These disorders may be acquired or congenital and produce an irregularity in the red or white blood cells or platelets. Treatment generally depends on the particular disorder and the severity of the condition.

Children from birth to the age of 15 may develop an inherited rare blood disorder known as Fanconi anemia, one of the aplastic anemias. The malady causes mutations and affects normal cell reproduction. Patients usually experience multiple-organ, skeletal, and blood abnormalities. The disease generally affects both red and white blood cells, along with platelet formation. Red blood cells, in particular, become abnormally large.

Studies suggest that there are variations of Fanconi anemia, but symptoms generally include fatigue, breathing difficulty, and dizziness. Abnormal white blood cells may weaken the immune response, posing an increased risk of infection. As abnormally large cells impede normal circulation, individuals with the affliction typically have cold hands and feet.


When a rare blood disease causes platelet irregularities, patients usually suffer from coagulation problems, indicated by bleeding or bruising easily. Those with a factor XIII deficiency generally experience coagulopathies or clotting abnormalities. Physicians also refer to the condition as fibrinase deficiency or Laki-Lorand factor deficiency. This rare blood disease disrupts normal clotting processes, causing abnormal bleeding. Individuals with a minor skin wound can experience swelling and pain, as blood not only flows from the wound, but also into the surrounding tissues.

Patients diagnosed with the disorder frequently become highly susceptible to internal bleeding. Reports also indicate that as many as one fourth of the patients who have inherited the disease suffer intracranial hemorrhage. Factor XIII deficiency is also frequently associated with individuals diagnosed with sickle cell disease and Henoch-Schonlein purpura.

Polycythemia vera is a rare blood disease that typically causes hemoglobinopathies. The affliction can appear in patients of any age, but patients may live with the disorder for many years without realizing that it exists. Complications may eventually produce a diagnosis. The disease generally causes an overabundance of red blood cells.

The unusually high population of red blood cells thickens the blood, inhibiting normal circulation. Slow blood flow impedes adequate circulation through the lungs, depriving all body tissues of adequate oxygen. The slower circulation rate also enhances the risk for possible heart attack or stroke.

Angiotropic lymphoma involves the abnormal congregation of large B-lymphocytes in the capillaries, small arteries, and veins. The tumor-like hematological malignancies associated with this rare blood disease generally consist of large quantities of lymphocytes trapped by fibrin clots. The lesions might appear below the skin as discolored nodules but often invade brain tissue, producing infarcts. Patients may experience fever, neurological symptoms, or vasculitis. Dementia is also not uncommon.



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