Red blood cells bring oxygen to your bodys tissues and organs, which is vital for cell survival.
In the case of DBA, thebone marrowdoesnt make enough healthy red blood cells to meet the bodys needs.
A genetic change typically causes DBA.
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A little less than half of the time, this change is inherited from one parent.
In other cases, it is a sporadic mutation that first appears in the affected person.
DBA is usually diagnosed in infancyin the first few months of life.
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What Causes Diamond-Blackfan Anemia?
The specific mechanisms that cause Diamond-Blackfan anemia are still being researched.
Others have rare genetic changes in proteins associated with ribosomes.
Symptoms of DBA
The symptoms of Diamond-Blackfan anemia vary from person to person.
The most apparent sign of DBA is anemia.
Many of these physical differences are present at birth.They include:
How Is DBA Diagnosed?
The process typically starts when the child fails to thrive and is very pale.
Anemia is diagnosed, then the healthcare providers start to search for a cause.
To diagnose DBA, healthcare providers will do a variety of tests.
These include:
What Are the Complications of DBA?
The complications of Diamond-Blackfan anemia include an increased risk of cancer and blood disorders and fertility implications.
(Note that the terms for sex or gender from the cited sources are used.)
Is DBA a Fatal Illness?
Yes, DBA can be deadly.
There are also complications of this disorder, like cancer, that can kill.
Complications and side effects of treatment, includingiron overload, are common causes of death in people with DBA.
Causes of death for people with DBA include:
Is There a Cure for DBA?
Ahematopoietic stem cell transplantcan cure Diamond-Blackfan anemia.
However, these transfusions overload their system with iron, which can lead to worse outcomes.
The people who do the best with stem cell transplants are children under 10 years old.
Studies have shown they have a five-year survival of 86.6%.
Stem cell transplant complications are one of the leading ways that people with DBA die.
Red blood cell transfusions can be combined with low doses of glucocorticoids.
Infants diagnosed with DBA first get red blood cell transfusions until 1 year old.
Healthcare providers then test glucocorticoids to determine how well they prevent anemia.
Talk with their healthcare provider if they have challenges with the process or side effects.
Ask about clinical trials or other treatment options.
Can You Reduce the Risk of Passing DBA to Your Children?
Most cases of DBA are due to specific genetic changes.
These genetic changes can be passed down from parent to child.
If a persons genome has just one altered gene, thats enough to cause the disorder.
If youve already conceived a child, they either have the mutation or dont.
Prenatal genetic testing can tell you if the fetus has the mutation.
How Long Can You Live With DBA?
Interestingly, DBA can go into remission (get better) spontaneously.
But it can also come back at any time.
About 75% of people with DBA survive to age 50.
At age 30, about 13% of people with DBA will have died.
By age 45, 23% will have died of complications of DBA or treatments.
Youll get CBCs several times a year.
If anything changes, youll need a bone marrow test to check the status of your blood-making cells.
These tests will check for genetic changes that might indicate youre developing myelodysplastic syndrome or leukemia.
If youre taking glucocorticoids, your healthcare providers will watch your blood pressure and (in children) growth.
People getting regular transfusions will have an endocrinologist monitoring their iron levels.
Living with DBA isnt easy.
Talk to a genetic counselor about your risk of passing your disease on.
As you age, talk to your healthcare provider about when you should start getting cancer screenings.
Summary
Diamond-Blackfan anemia (DBA) is a rare blood disorder.
It causes a lack of red blood cells, called anemia.
Genetic changes typically cause it.
These changes also cause physical changes and an increased risk of certain cancers.
Symptoms of DBA can vary from mild to severe.
They may include fatigue, weakness, pale appearance, rapid heartbeat, irritability, and poor appetite.
DBA physical differences include facial features, eye problems, and developmental abnormalities.
Tests used to diagnose DBA include blood and bone marrow tests and genetic testing.
The disorder can be life-threatening.
Complications include cancer, infections, and iron overload from blood transfusions.
Stem cell transplant can cure DBA, but it comes with significant risks.
Other treatment options include glucocorticoids and regular red blood cell transfusions.
Both treatments have side effects and long-term complications.
Living with DBA requires regular medical monitoring.
The life expectancy of individuals with DBA varies.
Many people with DBA live long, whole lives.
National Organization for Rare Disorders.Diamond Blackfan anemia.
GeneReviews [Internet].
2018;132(20):2205-2208. doi:10.1182/blood-2018-05-848937
Diamond Blackfan Anemia Registry.Outcomes.
