What Is Bone Marrow Failure?
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Bone Marrow Failure - Symptoms, Diagnosis, and Treatment

Published on Dec 08, 2022 and last reviewed on Aug 28, 2023   -  6 min read


An individual with bone marrow failure cannot produce sufficient numbers of blood cells. Read on to know more about it.

What Is Bone Marrow Failure?

Located within the bones of the body, bone marrow is a soft tissue found within the bones of the body. This tissue contains special cells known as stem cells. Hemoglobin, a protein found in red blood cells, is produced by stem cells to carry oxygen throughout the body. Infections are also prevented by white blood cells, known as leukocytes, within the body. And platelets, which aid in blood clotting and wound healing.

Patients with bone marrow failure are more likely to develop blood cancers such as leukemia or MDS (myelodysplastic syndrome), as well as other types of cancer and non-cancer medical conditions. To manage this risk, they require routine surveillance and monitoring. Patients with this condition have complex needs that differ from one person to another. As a result, it is critical to be evaluated by a bone marrow failure specialist in order to receive comprehensive and personalized treatment and monitoring.

What Are the Types of Bone Marrow Failure?

A group of conditions is known as bone marrow failure disorders. Therefore, bone marrow failure disorders come in several different varieties.

  1. Aplastic Anemia - It is a condition in which the body's stem cells are damaged, preventing it from producing enough new blood cells.

  2. Barth Syndrome - An inherited disease that causes infections by affecting white blood cells.

  3. Congenital Amegakaryocytic Thrombocytopenia - It is a genetic disorder characterized by low platelet counts in the blood. It can sometimes cause pancytopenia or a decrease in all three blood cell types.

  4. Congenital Dyserythropoietic Anemia - A genetic condition that causes the body to have too few red blood cells and not enough oxygen.

  5. Cyclic Neutropenia - A genetic blood disorder that causes a lack of certain white blood cells known as neutrophils. Children with this disorder are more prone to infections.

  6. Diamond-Blackfan Anemia - A condition caused by changes in certain genes. The bone marrow of children with this condition does not produce enough red blood cells. They may also have physical differences in their bones and features, as well as eye and kidney problems.

  7. Dubowitz Syndrome - A rare genetic disorder characterized by a variety of physical differences. Due to a lack of white and red blood cells, children with this syndrome are prone to infections.

  8. Dyskeratosis Congenita - A condition caused by gene mutations or changes in telomeres, which are a component of genes.

  9. Fanconi Anemia - A type of inherited aplastic anemia that affects the production of all blood cells in the bone marrow.

  10. GATA2 Disorders - These are diseases where there is a change in these genes, which instructs the bone marrow how to produce blood cells.

  11. Kostmann Syndrome - A genetic disease characterized by a low level of neutrophils, a type of white blood cell. Infections are more likely in children with this disease.

  12. Myelodysplastic Syndrome - A group of conditions that occur when stem cells undergo abnormal changes, causing them to produce fewer blood cells. This is a cancerous syndrome.

  13. Pearson Syndrome - It is not an inherited disease caused by a genetic change. This syndrome affects the production of all blood cell types in the bone marrow. It frequently causes anemia, fatigue, and infections.

  14. Childhood Refractory Cytopenias- A type of myelodysplastic syndrome in which certain blood cell types are deficient in children.

  15. Reticular Dysgenesis- It is a rare gene mutation that results in a deficiency of white and red blood cells. It mostly affects infants.

  16. Severe Congenital Neutropenia- It is a group of genetic disorders affecting infants. Babies with these rare conditions have low neutrophil levels and are more susceptible to infections.

  17. Shwachman-Diamond Syndrome- It is an inherited condition in which the bone marrow fails to produce enough white blood cells. Children with this syndrome are at risk of developing myelodysplastic syndrome or aplastic anemia. They may also have pancreas issues and bone structure differences.

  18. Sideroblastic Anemia- It is a type of anemia that occurs when red blood cells contain too much iron and fail to form properly. These anemias are either inherited or acquired and are frequently associated with myelodysplastic syndrome.

  19. Thrombocytopenia- When stem cells do not produce enough platelets, thrombocytopenia disorders develop. These disorders cause frequent bruising or internal bleeding in children.

  20. Thrombocytopenia with Absent Radii- It is a genetic disorder that causes insufficient blood platelets to form. Children with this disorder, also known as TAR (thrombocytopenia-absent radius) syndrome, are born without the radius bone in each forearm.

What Are the Causes of Bone Marrow Failure?

Bone marrow failure can occur in children and adults and can be inherited or acquired. In young children, inherited bone marrow failure is frequently the cause, whereas older children and adults may develop the disease later in life. Other causes include the following.

  • A defect in gene maturation is a common cause of inherited bone marrow failure.

  • Aplastic anemia.

  • Exposure to substances like benzene.

  • Chemotherapy or radiotherapy.

  • Viral or bacterial infections.

  • Certain medications, such as antibiotics or painkillers.

  • Immune system dysfunction.

What Are the Signs and Symptoms of Bone Marrow Failure?

Symptoms of bleeding are common in most cases. The patients may bleed or bruise easily from their noses, gums, or skin. Additionally, the following may also be present:

  • Fever, exhaustion, or breathlessness.

  • Infections or colds that do not go away or keep returning.

  • Tooth decay, tooth loss, or mouth-and-lance sores.

  • Loss of nails or distorted nails.

  • A smaller head, slower growth, or shorter height.

  • Issues with the digestive system.

  • Unhealthy bowel movements.

  • Premature graying of the hair or excessive hair loss

  • Pale skin or skin with small, definite spots of brown or red.

How to Treat Bone Marrow Failure?

Treatment of bone marrow failure depends on the underlying cause of the bone marrow failure. The following treatments are included.

  • Blood Transfusions- The patient might require blood transfusions through an IV (Intravenous). Only a portion of the blood may be given to the patients. This is to treat symptoms temporarily.

  • Growth Factors- These drugs encourage the bone marrow of the patients to make more blood cells.

  • Immunosuppressive Drugs- These aid in stopping the body's attack on its bone marrow. This might enable the bone marrow in the patients to produce more blood cells.

  • Bone Marrow Transplant- In this, a donor with bone marrow similar to the patient's own provides healthy bone marrow to the patient.

  • Peripheral Blood Stem Cell Transplant- Stem cells will be given to the patient. Red blood cells, for example, can develop from stem cells. Stem cells can move and start differentiating into new cells in the bone marrow as well.

How to Diagnose Bone Marrow Failure?

Disorders associated with bone marrow failure are rare. In order to diagnose patients, healthcare practitioners perform the following tests.

  • Medical History- Any relevant information about the patient's past, present, or future health will be noted. Also, the noted alterations in the patient's health will be recorded.

  • Blood Tests- The physician may recommend a complete blood count (CBC) test to aid in the diagnosis of certain blood cancers like leukemia and lymphoma causing bone marrow failure.

  • Genetic Tests - These are tests where doctors examine blood, hair, skin, or tissue to find out about a child's genetic changes.

  • Bone Marrow Biopsy- This test involves removing a sample of bone marrow and studying it.


A reduction or cessation in the production of blood cells that affects one or more cell lines is known as bone marrow failure. The production of all blood cells takes place in the bone marrow. Different signs of bone marrow failure depend on the types of blood cells they are made of. It can be either acquired or inherited categories. Aplastic anemia is the most typical cause of acquired bone marrow failure. Despite the fact that the condition cannot be cured, blood transfusions can control bleeding and lessen symptoms.

Last reviewed at:
28 Aug 2023  -  6 min read




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