Diamond Blackfan anemia
Disease Information
Overview
Diamond Blackfan anemia was first recognized at Boston Children's Hospital by the two physicians after whom the disease was named, and a succession of hematologists at Children's have continued to be fascinated by its complexity. Recent molecular studies here and elsewhere have established the gene family that is mutated in a large number of patients with DBA, and the establishment of the Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic has brought together expert clinicians, family support staff and researchers necessary to provide the best possible treatments for children with DBA and their families.
- Colin Sieff, co-director of the Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic
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Normally, bone marrow produces all of the blood cells your child’s body needs, but sometimes, genetic defects can disrupt the marrow’s ability to make these vital cells. Diamond Blackfan anemia (DBA) is a rare genetic blood disorder that occurs when the bone marrow fails to make red blood cells. At the Fanconi Anemia & Bone Marrow Failure Multidisciplinary Clinic at Children’s Hospital Boston, our team of pediatric hematology experts provides comprehensive treatment for DBA.
- Diamond Blackfan anemia is very rare, affecting five to seven children per million.
- DBA is a potentially life-threatening condition that can causes severe anemia and requires ongoing medical care.
- It can occur equally in boys and girls, and has been diagnosed in nearly all ethnic groups.
- Children with DBA are severely anemic.
- Most babies are diagnosed before their first birthday.
- Oral corticosteroids (which increase red blood cell production) are the mainstay treatment for DBA; other treatments include blood transfusions and bone marrow transplantation.
How Children’s approaches Diamond Blackfan anemia
At Children’s, we’ll approach your child’s treatment with sensitivity and support—for your child and your whole family. It will be our constant goal to maximize your child’s health and quality of life.
While DBA can be hard to treat, you can be assured that your child is in the care of some of the world’s foremost experts in pediatric hematology. We are a national pediatric hematology/oncology referral center, with one of the nation’s most experienced, multidisciplinary team at diagnosis and treatment of Diamond Blackfan anemia.
- We offer specialized diagnostic and treatment options, including hematopoietic stem cell transplantation by direct referral to Dana-Farber/Children’s Hospital Cancer Center’s Pediatric Stem Cell Transplant Program, one of the nation’s oldest and most experienced pediatric stem cell transplant programs.
- Our pediatric hematology experts provide your child with ongoing, comprehensive follow-up care to manage the symptoms of DBA.
- Researchers at Children’s are studying ribosomal protein genes and other genes of children with DBA to identify new genetic mutations related to the disorder.
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Reviewed by Colin Sieff, MB.BCh.,
© Children’s Hospital Boston, 2010
