7 Rare Diseases That Affect the Blood

Doctor William C Lloyd Healthgrades Medical Reviewer
Medically Reviewed By William C. Lloyd III, MD, FACS
Written By Healthgrades Editorial Staff on November 25, 2022

Fortunately, even the rarest blood diseases are treatable.

  • red-blood-cells
    Blood: Elixir of Life
    Blood could be called the elixir of life. Your blood performs many functions crucial to helping your body carry out the activities essential to keeping you alive. Red blood cells deliver oxygen to the tissues. White cells fight infection. Platelets help your blood to clot. So you might imagine what a serious threat to your health a blood disease could be. Rare blood diseases can attack any component of your blood and threaten your existence. Fortunately, even the rarest blood diseases are treatable.
  • aplastic-anemia
    1. Aplastic Anemia
    Fewer than 1,000 people per year are diagnosed with aplastic anemia in the United States. Different from common iron-deficiency anemia, aplastic anemia arises from a problem with the bone marrow that causes almost all blood cell production to cease. In aplastic anemia, the stem cells that normally form into red or white blood cells become damaged and never mature. The most common treatments for aplastic anemia include medications, blood transfusions and bone marrow or stem cell transplants.
  • Leukemia cells
    2. Myelofibrosis
    Fewer than 20,000 people in the United States live with this rare disorder. In myelofibrosis (MF), the bone marrow stops making red and white blood cells and instead produces scar tissue in places where the cell factories should be. Fewer red cells mean less oxygen delivery to the body. Fewer white cells make the body less able to fight infections. MF often results from a related disease like polycythemia vera (PV). Doctors usually treat myelofibrosis with medications or blood transfusions.
  • model-of-bone
    3. Polycythemia Vera
    This uncommon condition mainly affects people over the age of 60. In polycythemia vera, the bone marrow produces large numbers of defective red blood cells. These cells don’t function correctly and serve to thicken the blood. Thick blood cannot travel easily through tiny arteries to deliver oxygen to vital tissues. Fortunately, PV generally progresses very slowly. Many people who receive prompt treatment and medical monitoring live long, healthy lives.
  • lymphocytes
    4. Hairy Cell Leukemia
    Despite its name, hairy cell leukemia has nothing to do with your scalp follicles and everything to do with your blood. Hairy cell leukemia is a type of blood cancer that causes the body to produce too many immune system cells called lymphocytes. These white blood cells normally fight infection, but in hairy cell leukemia they become misshapen and simply clog up the bloodstream. Hairy cell leukemia can be treated, and many people live for years with the disease in remission.
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    5. Factor XIII Deficiency
    Your blood consists of many components beyond blood cells. In fact, blood contains more than 20 proteins related to clotting alone. One of these proteins, called Factor XIII (Factor 13) helps blood clots stick together. If a person lacks enough Factor XIII protein, he or she could experience problems with clotting or even spontaneous bleeding in the brain. Factor XIII deficiency is extremely rare, occurring in perhaps just one birth per 5 million. Fortunately two drugs are available to treat it.
  • microscopic-image-of-red-blood-cells
    6. Paroxysmal Nocturnal Hemoglobinuria
    In this rare disease, the body produces defective red blood cells that break down prematurely. This results in high levels of hemoglobin - a component of red cells - in the urine (“hemoglobinuria”). The breakdown of red cells causes reduced oxygen transportation to vital body tissues, resulting in fatigue or a rapid heart rate. Paroxysmal nocturnal hemoglobinuria (PNH) is very rare and often is caused by aplastic anemia. PNH can be treated with medications or, in severe cases, bone marrow transplantation.
  • anemia
    7. Waldenstrom Macroglobulinemia
    An extremely rare disease, Waldenstrom macroglobulinemia affects only about 3 people in a million each year. This blood cancer causes certain immune system cells to mutate. These mutated cells essentially take over the blood production centers in bone marrow and squeeze out normal red and white cells. At the same time, large amounts of abnormal proteins produced by these mutated cells accumulate in various body sites. Reduced numbers of healthy red and white blood cells in circulation leaves you open to anemia and infection. Waldenstrom macroglobulinemia can be treated with chemotherapy or even a bone marrow transplant.
7 Rare Diseases That Affect the Blood
  1. Blood Basics. American Society of Hematology. http://www.hematology.org/Patients/Basics/
  2. Aplastic Anemia. MedlinePlus. https://medlineplus.gov/aplasticanemia.html
  3. Frequently Asked Questions. Aplastic Anemia and MDS International Foundation. http://www.aamds.org/education/faq#n522
  4. Factor XIII. National Hemophilia Foundation. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Other-Factor-Deficiencies/...
  5. Hairy Cell Leukemia Treatment (PDQ) - Patient Version. National Cancer Institute. http://www.cancer.gov/types/leukemia/patient/hairy-cell-treatment-pdq
  6. Chronic Myoproliferative Neoplasms Treatment (PDQ) - Patient Version. National Cancer Institute. http://www.cancer.gov/types/myeloproliferative/patient/chronic-treatment-pdq#section/_234
  7. Primary Myelofibrosis. MPN Research Foundation. http://www.mpnresearchfoundation.org/Primary-Myelofibrosis
  8. Paroxysmal Nocturnal Hemoglobinuria. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/paroxysmal-nocturnal-hemoglobinuria/
  9. Polycythemia Vera. MedlinePlus. https://medlineplus.gov/ency/article/000589.htm
  10. Waldenstrom Macroglobulinemia. American Cancer Society. http://www.cancer.org/cancer/waldenstrommacroglobulinemia/detailedguide/waldenstrom-macroglobulinemi...
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Last Review Date: 2022 Nov 25
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