Bone marrow disease

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at November 2, 2016
StartDiseasesBone marrow disease

When a person has a bone marrow disease, they have an issue with their stem cells or with stem cell development. For example, a person who has leukemia, which is cancer of the blood, has bone marrow that creates abnormal lymphoid stem cells which go on to create abnormal white blood cells or myeloid stem cells which go on to create abnormal red blood cells. Other bone marrow problems include aplastic anemia, which is when the bone marrow cannot create enough new blood cells, as well as conditions where the bone marrow creates far too many blood cells (myeloproliferative disease).


Definition & Facts

Bone marrow is a type of sponge-like tissue that’s found inside some bones. Thigh bones and hip bones, for example, contain bone marrow. Bone marrow has stem cells, which are responsible for creating blood cells, including red blood cells. The body’s red blood cells are what transport oxygen throughout the body.

Bone marrow also creates white blood cells, which are used by the body to fight infection. Additionally, bone marrow also makes platelets, which help with the body’s process of blood clotting. When a person has a bone marrow disease, they have an issue with their stem cells. Everything from environmental factors to genetic factors can affect how a person’s stem cells operate. 

One type of bone marrow disease is Fanconi anemia. This is a disorder that gets carried down through genes. A child with Fanconi anemia likely got it from one of their parents and it’s possible that their siblings will also have FA. Other types of bone marrow diseases include polycythemia vera, lymphoma, leukemia, and thrombocytosis.

Symptoms & Complaints

Symptoms of Fanconi anemia due to bone marrow failure include infections that become serious and last longer than normal; easy bruising or bleeding easily; under-developed sex organs; late menstruation; early menopause; and problems getting pregnant or carrying a child to term.

Symptoms of polycythemia vera include weakness; headaches and dizziness; fatigue; shortness of breath; vision problems; itchy or burning skin; painful swelling of the big toe (gout); heavy bleeding even from minor cuts; unexplained weight loss; and sweating.

Primary thrombocythemia, another blood marrow disease, has symptoms that include bleeding; blood clots; weakness; headaches; dizziness; tingling of the extremities; and chest pain. Some of these symptoms, like dizziness and headaches, are specifically caused by a blood clot in the brain.

It’s possible that a person with a blood clot in the brain can also have a stroke in extreme cases. Additional blood clot symptoms include seizures; discomfort in the upper body; speech changes; nausea; shortness of breath; and disorientation.


Bone marrow diseases involve the underproduction or overproduction of blood cells and platelets. Bone marrow problems can occur when too much of one type of blood cell is produced, which crams the blood marrow with one type of blood cell and doesn’t leave room for another type. The blood marrow may also produce cells that don’t mature as they should, which can inhibit their functioning.

These problems may be caused by genetic or environmental factors. Fanconi anemia results from genetic mutations of the FANCA gene, FANCC gene, or FANCG gene which are usually passed down via autosomal recessive inheritance.

The body may lack iron, which can make it difficult for bone marrow to form red blood cells (iron-deficiency anemia). Removal of the spleen can result in thrombocytosis. Radiotherapy and chemotherapy can cause aplastic anemia as can certain types of viral infections and autoimmune diseases.

Diagnosis & Tests

Aplastic anemia and other bone marrow diseases can be diagnosed via bone biopsy in which a sample of bone marrow is tested. A complete blood count may be taken to diagnose many bone marrow diseases. These tests measure hematocrit, hemoglobin, as well as the amount of red blood cells, white blood cells, and platelets in a person's blood. Fanconi anemia can be diagnosed via eye examinations, neurological tests, X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI) scans.

Treatment & Therapy

Treatment for bone marrow disorders will vary depending on the specific disease. For example, thrombocythemia can be treated with a procedure called plateletpheresis which reduces the amount of platelets in the blood.

Aplastic anemia can be treated with blood transfusions and bone marrow transplants. Immunosuppressive drugs may also be used to treat aplastic anemia. Sargramostim, filgrastim, pegfilgrastim, and epoetin alfa can be used to stimulate blood cell production.

Prevention & Prophylaxis

The type of bone marrow disease determines how it can be prevented. For example, FA can be genetic, making it impossible for children to prevent it. However, through diet, anemia can be somewhat prevented, controlled or helped. A healthy, iron-rich diet and vitamins or iron supplements can increase the amount of iron in the body.

When it comes to cancers related to bone marrow problems, prevention isn’t always possible, but early detection is the next best thing. Avoiding and/or quitting tobacco could decrease the likelihood of getting cancer.

Knowing one's family history could help detect a bone marrow problem as early as possible, making it possible to start treatment right away. Yoga can also help with blood circulation.