Diamond-Blackfan anemia (DBA) is a very rare blood disorder that affects people’s bone marrow and disrupts red blood cell production. It’s a genetic disorder that happens when certain genes mutate or change. Diamond-Blackfan anemia is a chronic condition. People who have this condition will need life-long medical care and support.
Diamond-Blackfan anemia (DBA) is a very rare blood disorder that affects people’s bone marrow, preventing bone marrow from producing enough red blood cells. People rely on red blood cells to carry oxygen throughout their bodies.
This type of anemia is a genetic disorder that happens when certain genes mutate, or change. Those genetic changes determine what kind of symptoms people have and whether those symptoms are mild or severe. That said, nearly everyone with Diamond-Blackfan anemia has anemia symptoms. They may have other conditions that affect their overall health and quality of life. As people with Diamond-Blackfan anemia grow older, they have an increased risk of developing certain kinds of cancer.
Diamond-Blackfan anemia is a chronic condition. People who have this condition will need lifelong medical care so their healthcare providers can treat the inherited condition, manage treatment side effects and monitor complications.
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No, this is a rare condition. Each year, about 4 in 1 million children in the United States are born with Diamond-Blackfan anemia.
People rely on their red blood cells to carry oxygen throughout their bodies. Diamond-Blackfan anemia disrupts this process by creating abnormal stem cells that don’t become healthy red blood cells. Here is more information:
Some people have the condition without symptoms or with mild symptoms. Other people have severe symptoms that require immediate and ongoing medical care.
Diamond-Blackfan anemia is a chronic illness that increases the chance people may develop life-threatening medical conditions. The DBA Registry of North America, a database with information about people who have this condition, shows 25% of people with DBA die by age 50 from related medical conditions. Starting in their 40s, people with this condition have an increased risk of developing cancer that could be life-threatening. If you have this condition, ask your healthcare provider what you may expect. They’ll have helpful insight about potential issues and information on how you may be able to reduce your cancer risk.
About 45% of people with this condition inherit mutated genes from a biological parent. Researchers aren’t sure what triggers genetic mutations in people who don’t inherit the condition from a biological parent. But researchers can link Diamond-Blackfan anemia to more than 20 genes called ribosome protein (RP) genes that cause Diamond-Blackfan anemia symptoms and at least four other genes that mutate and disrupt red blood cell production.
Researchers also link specific genetic mutations to specific conditions linked to Diamond-Blackfan anemia. For example, when RPL19 gene mutates, it causes immature red blood cells in your bone marrow to die earlier than normal. People who have a mutated RPL5 gene typically are shorter than their peers or more likely to have facial differences such as a cleft lip. Another example is the GATA1 gene, which plays a major role in red blood cell production. People whose GATA1 gene mutated are likely to have more severe anemia symptoms than people who have Diamond-Blackfan anemia but don’t have this genetic mutation.
If you have the condition, there’s a 50% chance your child will inherit it.
This condition may affect different parts of your body, but the most common symptoms are anemia symptoms, including:
Other common symptoms are:
Less common symptoms include:
Healthcare providers may use several tests to diagnose this condition:
Allogeneic stem cell transplantations are the only known cure for Diamond-Blackfan anemia. In allogeneic stem cell transplantation, healthcare providers replace abnormal stem cells with healthy stem cells to boost red blood cell production. Healthcare providers typically turn to stem cell transplantations after other treatments haven’t solved the red blood cell shortage.
Healthcare providers may use the following treatments:
Corticosteroid treatment and blood transfusions are typically very safe treatments but they may cause some side effects.
People may develop the following issues if they need to take corticosteroids for a long time or need high doses to boost red blood cell production. Healthcare providers carefully monitor corticosteroid side effects, which may include:
Some people may develop the following issues if they need multiple blood transfusions:
Healthcare providers typically begin blood transfusions immediately after diagnosing the condition, and usually before children are a year old. They may start corticosteroid treatment when children are a year old.
Babies and very young children may be frightened, anxious or upset when it comes time for treatment. That’s a natural reaction for someone who isn’t feeling well and may be afraid treatment will hurt. Here are some steps you can take that may help:
This condition affects people in many different ways. People who have this condition typically work with several different specialists:
Diamond-Blackfan anemia is a genetic disorder that happens when certain genes mutate, or change. You can reduce your risk of passing the condition on to your biological children. If you have Diamond-Blackfan anemia, ask your healthcare provider about the chances you may pass the condition on to your children.
Diamond-Blackfan anemia affects people in many different ways, making it difficult for healthcare providers to offer a prognosis. Some people who have this condition may have medical conditions with mild symptoms that don’t affect their lifespan. Other people may have more severe symptoms or serious conditions, such as severe anemia, heart or kidney issues that could be life-threatening.
People with Diamond-Blackfan anemia will need medical support for the rest of their lives. That can be an overwhelming prospect if you have or your child has this condition. Here are some suggestions that may help:
A note from Cleveland Clinic
It’s not easy to live with an illness that doesn’t go away. Perhaps the most challenging aspect of living with Diamond-Blackfan anemia is living with a very rare illness most people don’t know exists, much less experience. People who have Diamond-Blackfan anemia may feel as if they’re on their own. If that’s your situation, ask your healthcare providers for help. They understand the challenges that are part of managing an illness like Diamond-Blackfan anemia. They’ll be at your side and on your side for as long as you need help.
Last reviewed by a Cleveland Clinic medical professional on 06/14/2022.
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