Diamond-Blackfan anemia is a serious inherited condition. Those with this condition are at an increased risk for developing cancer and other serious medical problems.
Currently, the only known cure for Diamond-Blackfan anemia is an allogeneic stem cell transplant. This procedure replaces abnormal stem cells with healthy ones and boosts red blood cell production.
This procedure is often recommended by healthcare providers after other treatments are unsuccessful.
Another option is a blood transfusion, which replaces the person’s low red blood cells with donated ones. Both treatments are usually safe, but may cause side effects.
Approximately 25% of people with this condition will die before they reach age 50. People with this condition also have a high risk of contracting bone marrow cancer. Your healthcare provider can provide information about the risk and treatment options for this disease.
What Are the Symptoms of Diamond-Blackfan Anemia?
Diamond Blackfan Anemia is a rare condition with a very specific set of symptoms. The disease is associated with a number of birth defects, including a horseshoe kidney and an absent kidney.
The condition can also lead to hypospadias, a birth defect where males are born with a deformed urinary opening.
It is a chronic disease and will require lifelong medical care. A healthcare provider can prescribe medications for people with the condition, monitor its progression, and manage the side effects of treatment.
Diamond-Blackfan anemia affects about 4 percent of newborn children in the United States every year. A majority of babies are diagnosed with the condition within the first two or three months after birth.
Children with this condition are typically very small for their age, and the condition can be devastating to their development. Treatment for Diamond Blackfan Anemia may include corticosteroid treatment or blood transfusions.
Steroids can raise a child’s red blood cell count, and red blood cell transfusions can be given through an intravenous line. Steroid treatments are safe but can cause side effects.
Diamond Blackfan Anemia can also cause the following symptoms:
- Fatigue: Feeling too tired or weak to handle daily activities.
- Difficulty breathing – known medically as dyspnea: A feeling of being out of breath.
- Pallor: Your skin appears paler than usual.
- Delayed growth: Children suffering from Diamond-Blackfan anemia may be smaller or shorter than their peers of similar age.
- Small heads (microcephaly): This symptom may be noticed soon after a child is born.
- Physical differences such as missing or misshapen thumbs.
- Heart conditions like an atrial septal defect.
- Kidney conditions: Diamond-Blackfan anemia may cause horseshoe kidney.
- Small bottom jaw Short, webbed neck and Small shoulder blades.
Genetic Testing for Diamond Blackfan Anemia
Genetic testing for Diamond Blackfan anemia is typically performed using a blood sample. The results of the tests will show whether there are any gene changes in the patient’s DNA that could lead to the disease.
About one quarter of all patients with DBA have a genetic change in their DBA genes, but some may not have any changes at all.
Other specialized blood tests can help confirm the diagnosis of DBA, such as fetal hemoglobin and erythrocyte adenosine deaminase activity levels. Both tests are often elevated in patients with DBA. Treatment for Diamond Blackfan anemia involves regular blood transfusions and corticosteroid therapy.
Several organizations are involved in the research and support testing for Diamond Blackfan anemia. The Centers for Disease Control and Prevention (CDC) and the Feinstein Institute for Medical Research (FMI) have funded research on this rare disease.
Additionally, the National Heart Lung and Blood Institute (NHLBI) has supported research on Diamond Blackfan Anemia gene discovery and sequencing.
Treatment Options for DBA
Diamond-Blackfan anemia is often diagnosed before a child reaches one year of age, but sometimes it’s found later.
If you suspect your child may have the disorder, the first thing you should do is get a complete blood count. This will measure the amount of red blood cells, white blood cells, and platelets.
A doctor may also do genetic testing to confirm the diagnosis. Patients with DBA have an elevated level of the ADA enzyme in their blood. Treatment for DBA usually involves blood transfusions and corticosteroids.
If other treatments have failed, your doctor may recommend steroid medications or a stem cell transplant. These treatments can raise your child’s red blood cell count. Transfusions of red blood cells through an intravenous line are also available.
Ultimately, a stem cell transplant may be the only treatment for Diamond-Blackfan anemia. Stem cell transplants replace the damaged bone marrow cells with donor cells. However, this treatment isn’t without its risks.
A hematologist must consider many factors before recommending stem cell transplantation. If your child has any other health conditions or isn’t responding to any other treatments, this treatment may not be an option.
Diamond-Blackfan anemia is a condition caused by a mutation in a number of genes. Some of these genes are responsible for regulating the production of ribosomal proteins. These genes are involved in the formation of blood cells and are involved in 45% of the disease’s cases.
Remission
Currently, there is no cure for Diamond-Blackfan anemia, but there are several ways to treat it. Patients can receive allogeneic stem cell transplantations, which replace abnormal stem cells with healthy ones, and this significantly boosts the production of red blood cells.
This is an extremely effective treatment, and healthcare providers typically turn to it after other treatment methods fail.
Other options include blood transfusions, which use donated red blood cells to raise the patient’s red blood cell count. These methods are generally safe, but they can have unwanted side effects.
Most people with Diamond Blackfan anemia develop it as children, and the gene change that causes the disorder is usually passed down from one parent to another.
However, different siblings will experience different symptoms and require different therapies. One sibling may not need any therapy, while another may require blood transfusions throughout their life.
At least one third of people with this disease inherit the gene change from one parent or the other. Diamond-Blackfan anemia is a genetic disorder affecting the production of red blood cells.
Although most patients will require treatment, some may go undiagnosed or experience only intermittent episodes of severe anemia. Remission of this disease may be achieved with newer technologies, including advanced genomics.
How Long Do People With Diamond Blackfan Live?
Although the majority of people with Diamond-Blackfan anemia live a relatively normal life, the condition is often complicated by other conditions.
25% of people with DBA die from related medical conditions by the time they are 50, according to the DBA Registry of North America.
A person with the disorder may experience symptoms including low energy and a reduced appetite. As a result, it’s important to encourage healthy lifestyle habits, such as exercising.
In addition, those with the disorder may benefit from support from their healthcare provider.
Conclusion
Diagnosing Diamond-Blackfan anemia begins with a routine blood test. Genetic testing and a medical history are also important to make a proper diagnosis.
In some cases, a bone marrow biopsy or bone marrow aspirate may also be necessary. A bone marrow biopsy will allow the doctor to identify any additional abnormalities in the child’s bone marrow.
Treatment for DBA will include steroids to reduce inflammation and increase the production of red blood cells. A blood transfusion is another option for boosting the levels of red blood cells.
