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Diamond Blackfan anemia (DBA) is a rare blood disorder. Children with DBA do not make enough red blood cells—the cells that carry oxygen to all other cells in the body.
Blood cells are made in the bone marrow, the spongy insides of long bones. In children with DBA, many of the cells that would have become red blood cells die before they develop.
Most of the time, signs or symptoms of anemia appear by 2 months of age. Symptoms may range from mild to severe. They include:
The diagnosis of DBA is usually made in the first year of life. It is diagnosed based on the signs and symptoms and results of blood and bone marrow testing.
Anemia is diagnosed with:
Bone marrow analysis is also done. A sample of bone marrow cells is taken and examined.
Diagnosis of DBA is based on these 4 findings from a complete blood count (CBC) and bone marrow biopsy:
Other lab tests may also be abnormal. And, genetic testing may show gene defects or changes.
Treatment may include medications, blood transfusions, and bone marrow transplant. DBA was once thought of as a disease only of children. With more successful treatments, however, many children survive well into adulthood. Many more adults now are living with the disease.
Specialists treat children with DBA. Your child's health care provider may recommend a hematologist, a blood specialist or a geneticist, a gene specialist or other experts. DBA is treated with:
About 20% of people with DBA go into remission after treatment. Remission means that the signs and symptoms of anemia have disappeared for more than 6 months without any treatment. Remission can last for many years and can even be permanent. If symptoms come back after remission, it is called relapse.
Complications of DBA include:
Some complications from the treatment of DBA include:
Your child will be watched very closely. He or she will have:
Severe anemia in a child affects the whole family. You should:
You know your child better than anyone else. If you are in doubt or if you have questions or concerns, it is best to contact his or her provider.
And, work closely with your child's healthcare providers to know what to report. It depends on your child's age, treatment and other factors. For example, your child's provider will tell you what to watch for if your child has had a stem cell transplant. Or if your child is taking a certain medicine, the provider will tell you what side effects may occur.
Bayhealth is Southern Delaware’s healthcare leader with hospitals in Dover and in Milford. Bayhealth provides a wide range of medical services, including cardiovascular, cancer, orthopaedics and rehabilitation, pediatrics, respiratory care, sleep care, surgical weight loss and women’s services.