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Diamond-Blackfan Anemia (DBA)
Sunday, 27 July 2003
Tuesday, 28 October 2003

What

Diamond Blackfan Anemia (DBA) is a unique kind of anemia (low number and quality of red blood cells) in which there is a deficiency of precursors of the red blood cells in the bone marrow. The anemia is characterized as macrocytic (the size of the red blood cells are bigger than normal). This form of anemia is rare and is diagnosed as DBA when all the other anemias have been ruled out.

Who

DBA affects males and females equally. The typical age of diagnosis is birth to 1 year old. Symptoms usually present in infancy or soon thereafter. Eighty percent of cases are sporadic, meaning that there are new genetic mutations that have led to DBA rather than the disease being inherited. In approximately 15% of the cases, inheritance may play a role. DBA affects many ethnic groups such as East Indians, Japanese, Arabs, and Africans. Some countries such as France and regions of the United Kingdom report that the incidence of DBA is 5-7 cases per million births.

Signs and Symptoms

Most symptoms occur as a result of profound anemia- pallor, fatigue, poor weight gain, and finally heart failure. In approximately one-third of cases, the affected individual may have short stature or other facial and limb abnormalities.

Diagnosis

The diagnosis is usually made using laboratory findings and symptoms of DBA. Blood tests will show large red blood cells and a decreased number of red blood cells. The anemia at the time of diagnosis is usually severe. There is also a decreased number of immature red blood cell called reticulocytes. A specific enzyme called adenosine deaminase (ADA) is also elevated in patients with DBA. Bone marrow biopsy shows a deficiency in the number of red blood cell precursors, even though there are increased levels of erythropoietin (a hormone that stimulates the bone marrow to produce more red blood cells). Other cells in the bone marrow are normal (white blood cells and platelets.) Testing can identify approximately 15% of affected individuals as having a specific genetic mutation.

Treatment

Oral corticosteroids should be started as soon as DBA has been diagnosed. A number of patients will respond to prednisone and may be able to tolerate a tapering of the dose over time. Those patients that do not respond to corticosteroids will require chronic transfusion therapy. Some of those who undergo transfusions may regain their sensitivity to corticosteroids or even proceed into remission. Red blood cell transfusions are given monthly so that the child may resume normal activity. As a precaution, an iron chelator may be given in order to remove excess iron from the blood in those requiring repeated transfusions. Bone marrow transplantation should be considered for those who are dependent on transfusions and have siblings who may be donors.

Prognosis

For those who respond to prednisone (50-75%) have a favorable prognosis and live into adulthood. Those who require transfusions are at risk for complications related to iron overload, such as congestive heart failure, liver failure and cardiac arrhythmias. In both groups, approximately 14% of children with DBA will undergo spontaneous remission during childhood and will not need further therapy.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Diamond Blackfan Anæmia Support Group
This is a wonderful website that has a good review of DBA, tells of ongoing research, newsletter opportunities, and support from others that are also dealing with DBA.

Family Village
This website allows for family members and patients to chat with others that have been affected by DBA.

National Cancer Institute
A detailed summary of the disease with nice definitions of technical terms. National Heart,

Lung and Blood Institute
A website with information about ongoing research on DBA.

Clinical Trials.gov
A website with information about clinical trials involving treatment of DBA.

Google Search for Diamond-Blackfan Anemia (DBA)

References and Sources

Current Pediatric Diagnosis & Treatment - 16th Ed. (2003) marrowfailure.cancer.gov/DBA.html Hoffman: Hematology: Basic Principles and Practice, 3rd edition