Inherited Bone Marrow Failure Syndromes
Overview
Inherited Bone marrow failure syndromes (IBMFS) are a group of disorders characterized by the bone marrow’s inability to produce sufficient blood cells, including red blood cells, white blood cells, and platelets. This leads to various health complications. These are genetic disorders that often run in families.
Commonly encountered inherited bone marrow failure syndromes
- Fanconi anemia
- Diamond-blackfan anemia
- Dyskeratosis Congenita
- Shwachman-diamond syndrome
- Severe congenital neutropenia
- Thrombocytopenia absent radii (TAR)
Common signs and symptoms
- Fatigue and pallor due to low red blood cell counts.
- Frequent infections due to low white blood cell counts.
- Easy bruising or bleeding due to low platelet counts, leading to symptoms like nosebleeds or petechiae (small red spots on the skin).
- Bone pain
Diagnostic tests
- Complete blood count (CBC) can indicate low levels of red blood cells, white blood cells, and platelets.
- Peripheral blood smear to assess the morphology of blood cells for abnormalities.
- Bone marrow aspiration and biopsy: This involves taking a small sample of bone marrow, typically from the hipbone. The bone marrow appears hypocellular, with a predominance of fat cells.
- Genetic testing which can Identifiy mutations associated with inherited syndromes.
The Journey of Healing Starts Here
If you or your loved one is experiencing symptoms of Inherited Bone Marrow Failure Syndromes, our expert hematology team is here to help. We provide comprehensive diagnostic services, individualized treatment plans, and ongoing support to ensure the best outcomes.
Treatment options
Supportive care including antibiotics for infections and medications to manage symptoms.
Bone marrow transplant (BMT) is the primary treatment for severe cases; it involves replacing damaged bone marrow with healthy stem cells from a donor.
Immunosuppressive therapy may be used to suppress the immune system and allow the bone marrow to recover.
Androgens and growth factors to stimulate blood cell production in certain inherited cases.
Prognosis
Many patients with IBMFS are now living into adulthood, thanks to advancements in medical care and management strategies. However, the prognosis can differ widely among the various syndromes.
At our center we have extensive expertise in performing bone marrow transplantation for inherited IBMFS, utilizing optimized conditioning regimens and disease-specific approaches to maximize outcomes. Our center also offers ongoing support, educational resources for patients and families. We are dedicated to improving the quality of life for individuals with IBMFS through comprehensive care.