Diamond-Blackfan anemia

Also known as: DBA, Blackfan Diamond anemia/disease/syndrome (and many others)

What is Diamond-Blackfan anemia?

Diamond-Blackman anemia is a rare disorder of the bone marrow (usually presenting by 2 months of age in boys and girls of all races equally) which fails to produce enough new red blood cells (which carry oxygen throughout the body). Children with DBA have an increased risk for other bone marrow abnormalities.

What causes Diamond-Blackfan anemia?
In about 50% of children with Diamond-Blackfan anemia the cause is a due to one of a number of genetic mutations- for the others, no clear cause is as yet known. In some cases, the mutation is passed down from parents to children.

What are the signs/ symptoms of Diamond-Blackfan anemia?
Almost half will have physical birth defects (like small heads, wide-set eyes, droopy eyelids, broad flat nose, small lower jaw, ears that are lower than normal, cleft lip and palate, no thumbs and many others). Symptoms include varying degrees of anemia (low red cell count), paleness, weakness and fatigue, irritability, sleepiness, rapid heartbeat and others.

What are Diamond-Blackfan anemia care options?
Common treatments include blood transfusions and steroids. In some cases, a bone marrow/stem cell transplant from a healthy donor may cure the disorder.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 5/23/2018 11:06:59 AM

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