The Bone Marrow Failure Program at Cohen Children’s was established to provide comprehensive, multidisciplinary care for children with acquired and inherited bone marrow failure syndromes. Our care team will help you understand your child’s disease, provide various treatment options and help you get support throughout the process.
Our program offers evaluation, diagnosis and treatment for these rare disorders including, but not limited to:
- Aplastic anemia
- Fanconi anemia
- Shwachman Diamond syndrome
- Diamond Blackfan anemia
- Pearson syndrome
- Dyskeratosis congenita
- Severe congenital neutropenia
- Cyclic neutropenia
- Congenital amegakaryocytic thrombocytopenia
- Thrombocytopenia with absent radii
- Other thrombocytopenia disorders
- Paroxysmal nocturnal hemoglobinuria
Bone marrow failure occurs when the bone marrow does not function normally and does not make enough blood cells for the body. It can be congenital (genetic) or can be acquired. It may affect one or more types of blood cells in the body, including white blood cells, red blood cells and platelets. Bone marrow failure syndromes may be life threatening and require immediate as well as long-term care.
Our Bone Marrow Failure Program has access to the latest treatment options for these syndromes. The program participates in several national registries, including the International Fanconi Anemia Registry (IFAR), the Severe Chronic Neutropenia International Registry (SCNIR) and the Shwachman Diamond Syndrome Registry (SDSR). It is also home to the Diamond Blackfan Anemia Registry. Patients and their families are offered enrollment in these registries, which collect data to learn more about these disorders and their treatment.
Patients with bone marrow failure syndromes may have health problems that affect organs in addition to the blood. Cohen Children’s can provide a team of specialists to meet the specific needs of each child, including cardiologists, pulmonologists, urologists, gastroenterologists, nephrologists, oncologists, geneticists, dentists and dental surgeons, endocrinologists, immunologists, hand surgeons, general surgeons, orthopaedic surgeons and otolaryngologists.
The Bone Marrow Failure Program aims to improve our patients’ overall health and quality of life, provide accurate diagnosis and various treatment options, decrease the effects of complications associated with these rare syndromes, and offer a complete and personalized patient experience. It also serves as a resource center for other healthcare professionals caring for these patients.
The program’s goals are:
- To improve the health and well-being of our patients with acquired and inherited bone marrow failure syndromes by providing personalized, comprehensive care
- To educate patients, parents and healthcare professionals about the acquired and inherited bone marrow failure syndromes
- To provide referrals to specialists as needed and coordinate patient care
- To offer psychological and/or social counseling as needed
- To offer opportunities to participate in research to improve the lives of our patients
Our research in the Bone Marrow Failure Program is centered on the rare disorder of Diamond Blackfan anemia (DBA), one of the inherited bone marrow failure syndromes. It has an estimated incidence of approximately seven per every 1 million births or 20-40 new cases per year in North America.
Those with DBA fail to produce red blood cells, the cells that carry oxygen to the body’s organs. Half of the patients with DBA can also have birth defects involving the face, head, hands, heart and kidneys. Patients also have a predisposition to getting cancer at younger than expected ages.
The Diamond Blackfan Anemia Registry
The Diamond Blackfan Anemia Registry (DBAR) of North America was established in 1991. The DBAR has enrolled patients from the United States, Mexico and Canada and is the largest registry of its kind in the world. Through the DBAR, our thorough research in DBA has been involved in discovering the genes responsible for this rare disease. We have found 11 of the 19 reported genes to date.
The DBAR and its physicians are active in patient care by providing treatment recommendations and providing clinical information on this rare disease to patients and their physicians around the world. The DBAR also works closely with laboratory researchers to understand the biology of red cell failure in DBA as well as the reason for the high incidence of cancer in patients with DBA.
The DBAR is actively doing research on these topics, and others, in DBA:
- Treating the anemia of DBA with chronic red cell transfusion (required every 3-4 weeks) or steroid therapy (required daily) for the lifetime of the patient
- Continuing to discover more genes responsible for DBA
- Investigating the cancers that patients with DBA develop and how to treat them
- Identifying the birth defects in patients with DBA
- Researching puberty, pregnancy, and menopause in girls and women with DBA
- Researching the results of bone marrow/stem cell transplantation on patients with DBA
- Providing clinical trials of new drugs for patients with DBA
Contact the DBAR
Adrianna Vlachos, MD
Director, Diamond Blackfan Anemia Registry
The Feinstein Institute for Medical Research
350 Community Drive
Manhasset, NY 11030