Bone Marrow Failure Syndrome Treatment and Know More

Blood cell are made in the bone marrow and released into the peripheral bloodstream.

There are three types of blood cells in the body:

  • White blood cells, which work to fight infection.
  • Red blood cells contain hemoglobin, carry iron and deliver oxygen to tissues throughout the body.
  • Platelets, which help form clots and stop bleeding.

All these cells and their precursors are produced in the bone marrow before maturing and being released into the bloodstream. The bone marrow is located in the long bones of the body, namely the hips and upper legs. Bone marrow failure syndromes (BMFS) can result when blood cells are not produced adequately. It may present with only one decreased cell line or with all three cell lines being low (pancytopenia). Low peripheral blood counts can indicate bone marrow failure.

Bone marrow failure syndromes may be present at birth or develop later in life. Some bone marrow failure syndromes are due to an underlying inherited genetic condition. In contrast, other bone marrow failure syndromes are due to an acquired cause such as viral or drug/toxin exposures. In many cases of bone marrow failure, the underlying cause cannot be identified, and the term “idiopathic” is used. Bone marrow failure can manifest as one isolated cytopenia (one blood cell type decreased) or pancytopenia (all three blood cell types decreased).

The major disorders are

  • Amegakaryocytic thrombocytopenia (Amega)
  • Diamond Blackfan anemia (DBA)
  • Dyskeratosis congenita (DC)
  • Fanconi anemia (FA)
  • Aplastic anemia
  • Pearson syndrome
  • Severe congenital neutropenia (SCN)
  • Shwachman Diamond syndrome (SDS)
  • Thrombocytopenia absent radii (TAR)
  • Other bone marrow failure syndromes

Fanconi anemia

Fanconi anaemia is the most common type of bone marrow failure. This condition prevents people from producing normal white blood cells, red blood cells, or platelets. Children with Fanconi anaemia may be shorter than their peers and have unusual skin colour, unusual thumbs, and small eyes. They are also more likely to develop myelodysplastic syndrome (MDS), leukaemia, and/or solid tumours of the head and neck.

Congenital amegakaryocytic thrombocytopenia

A mutation in the gene called MPL causes congenital amegakaryocytic thrombocytopenia (CAMT). This mutation increases the risk of leukaemia by causing problems with red and white blood cells and platelets. CAMT can cause bruising, bleeding, deformed thumbs, and short stature in children.

Diamond blackfan anemia

Diamond-Blackfan anaemia (DBA) causes children to produce a low amount of red blood cells. Their platelet and white blood cell counts typically remain normal. Mutations in genes that control a cell's ability to generate specific proteins cause this disorder. DBA patients may have abnormal thumbs and be shorter than others of their age group.

Dyskeratosis congenita

Dyskeratosis congenita affects white blood cells, red blood cells, and platelets. Children with this disorder may have darkened areas of skin or abnormal skin colour, nail changes, white patches in the mouth, abnormal thumbs, small eye size, and be shorter than others of their age group.

Shwachman diamond syndrome

Shwachman Diamond syndrome affects the synthesis of white blood cells initially and then moves on to red blood cells and platelets. They may have bone abnormalities as well as liver and pancreatic disorders, which can interfere with fat absorption in the body. Shwachman Diamond syndrome children may also have abnormal skin colour, abnormal thumbs, small eye size, and be shorter than other children of their age.

Thrombocytopenia absent radii

Children with thrombocytopenia have no radii and one of the two lower arm bones (known as the radius) is absent . These patients are also more prone to bruising.


As there are many types of bone marrow failure disorders, Symptoms may vary.

Some of the symptoms may include :

  • Easy bruising or bleeding.
  • Fatigue.
  • Frequent Infections
  • Trouble breathing
  • Pale appearance
  • Kidney issues
  • Bone structure differences
  • Bone pain

Diagnosis of bone marrow failure syndrome

Complete Blood Count

The characteristic findings are unilineage or multilineage cytopenia, which varies with the individual diseases. Examination of the blood gives the diagnosis.

Bone Marrow Study

marrow biopsy is done to confirm the hypocellularity of the marrow.

Flow Cytometry

This is often performed to detect early changes of leukemia and Myelodysplastic syndrome.


This is testing for abnormalities in the chromosomes. Certain genes are mutated, which leads to complete or partial defects in the cells.

Antenatal Screening

For mothers who have already had a child with an inherited bone marrow failure syndrome, prenatal testing can be done for subsequent pregnancies. Samples of amniotic fluid, blood or cells from the placenta are tested for IBMFS.


Blood or platelet transfusion

Blood transfusion is performed by inserting a needle into a vein to transfer given blood from a family member or an unknown donor. It takes a few hours to complete. Blood transfusions help to prevent anaemia, and the platelet transfusions help[s in reducing severe bleeding.


These are medications that aid in preventing the immune system from attacking bone marrow in the body. This allows the bone marrow to produce more blood cells. Anti-thymocyte globulin (ATG) and cyclophosphamide are the most commonly used medications.

Bone marrow stimulants

They are also known as hematopoietic growth factors. These medications stimulate the bone marrow to produce more blood cells.

Bone marrow transplant

Doctors will replace damaged or sick bone marrow with healthy stem cells. Healthy stem cells come from your child, a donor, or umbilical cord blood, depending on the type of transplant. To prepare for a bone marrow transplant, your kid may require chemotherapy or radiation.

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Frequently Asked Questions

1. What is bone marrow failure syndrome?

Bone marrow failure syndrome refers to a group of rare disorders where the bone marrow's ability to produce blood cells is compromised. This can lead to low levels of red blood cells, white blood cells, and platelets, resulting in various health problems.

2. What causes bone marrow failure syndrome?

The exact causes vary depending on the specific syndrome. In some cases, it might be due to genetic mutations, while in others, it could result from autoimmune reactions, viral infections, exposure to toxins, or certain medications.

3. What are the common symptoms of bone marrow failure syndrome?

Symptoms can include fatigue, weakness, pale skin, frequent infections, easy bruising or bleeding, shortness of breath, and other signs related to low blood cell counts.

4. Are there different types of bone marrow failure syndromes?

Yes, there are several types, including aplastic anemia, myelodysplastic syndromes (MDS), and paroxysmal nocturnal hemoglobinuria (PNH), among others. Each type has distinct characteristics and underlying causes.

5. How is bone marrow failure syndrome diagnosed?

Diagnosis involves blood tests, bone marrow aspiration and biopsy, and sometimes genetic testing. These tests help determine the levels of various blood cells and assess the overall health of the bone marrow.