Contents:
- Medical Video: Survivor of Two Rare Diseases - Diamond Blackfan Anemia Patient Shares His Story
- Facts about diamond blackfan anemia
- Symptoms of diamond blackfan anemia
- Diagnose diamond blackfan anemia
- Diamond blackfan anemia treatment
- Manage diamond blackfan anemia
Medical Video: Survivor of Two Rare Diseases - Diamond Blackfan Anemia Patient Shares His Story
Diamond Blackfan Anemia (DBA) is a rare blood disorder that is usually diagnosed in children during the first year of their lives. Children with DBA do not make enough red blood cells which carry oxygen to all other cells in the body.
Blood cells are made in the bone marrow, the inside of a long bone sponge. In children with DBA, many cells that will become red blood cells die before they develop.
Facts about diamond blackfan anemia
Boys and girls of all races are equally affected. Mostly, signs or symptoms of anemia appear at the age of 2 months, and a diagnosis of DBA is usually made in the first year of life of the child.
DBA can be reduced through family. About half of the pediatric patients diagnosed with abnormal gene disorders have been identified and can contribute to the causes of DBA. In other children with DBA, no abnormal genes were found and the cause was unknown.
Treatment may include medication, blood transfusions, and bone marrow transplants. DBA was once considered a disease that occurs only in children. With more successful treatment, many children survive to become adults and more adults now live with this disease.
Symptoms of diamond blackfan anemia
The following are the signs and symptoms of this type of anemia:
- Pale skin
- Drowsiness
- Irritability
- Fast heart rate
- Heart murmur
In addition to these signs and symptoms, up to half of children with DBA are also born with several types of birth defects. These birth defects may include facial, head, hand (especially thumb) abnormalities, heart, kidney, or genital area.
Diagnose diamond blackfan anemia
DBA diagnosis usually starts when your pediatrician discovers signs or symptoms of anemia during a routine examination or after a routine blood test. The two most important tests for diagnosing DBA are blood sample testing and bone marrow testing. The findings needed to make a diagnosis are:
- Anemia before 1 year of age
- Blood samples show macrocytic anemia, which means red blood cells are larger than normal
- Normal amount of white blood cells and platelets in blood samples
- Not enough reticulocytes, which are newly created red blood cells
- The bone marrow sample shows only a few cells that will develop into red blood cells
- Other findings supporting the diagnosis of DBA include family history, gene abnormalities, and birth defects.
Diamond blackfan anemia treatment
Here are some of the most common treatments for this anemia:
- Steroids. This is a powerful drug that fights inflammation in the body. Although doctors don't know exactly how they work with DBA, steroids allow about 80 percent of people with DBA to start making more red blood cells.
- Blood transfusion. healthy and suitable blood donors can be given every four to six weeks to increase the number of red blood cells in someone with a DBA.
- Stem cell transplant. Stem cells are cells in the bone marrow that can be all types of blood cells. Stem cell transplantation requires matching donors, usually close family members, and transfusing healthy stem cells from them to people with DBA. Stem cell transplantation can cure DBA, but rejection or infection may occur. Because of this serious risk, stem cell transplants are usually not used except steroids or blood transfusions do not help.
About 20 percent of people with DBA experience remission after treatment. Remission means that anemia signs and symptoms have disappeared for more than six months without treatment. Remissions can last for years and can even become permanent. If symptoms return after remission, it is called relapse.
Manage diamond blackfan anemia
Severe anemia in children affects the whole family. Treatment and management require a complete care team that includes specialist doctors, such as care, nutrition, social, and psychological support. Parents or guardians must learn as much as they can about DBA and work with care teams.
Adults with DBA will need further care and treatment, including managing the side effects of steroid treatment and repetition of transfusions. Adults with DBA also need to talk with their medical team about the risk of having children. A mother or father with DBA has about 50 percent lowering DBA in her child. Pregnancy can also trigger recurrence in women who are DBA in remission. A woman with DBA who is pregnant should be examined by a high-risk disease specialist.
A common complication of DBA is excess iron, which can affect the heart and liver. This condition results from the transfusion needed for treatment. Treatment may include the use of an iron chelation drug that removes iron from the blood to prevent complications. Steroids can have significant side effects, such as osteoporosis, increased body weight, high blood pressure, and diabetes mellitus, all of which need to be monitored regardless of the patient's age. Young patients are at a certain risk for slowing physical growth. They may need changes in their treatment plan to ensure adequate growth in the first year of life.
