Diamond-Blackfan anemia (DBA) is a rare blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body.
While potential responsiveness to steroids and relative ease of red cell transfusion make DBA one of the most treatable congenital marrow failure syndromes, both disease-related and treatment-related factors contributed to a limited prognosis (median survival, 38 years).
Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies and a predisposition to cancer. Faulty ribosome biogenesis, resulting in pro-apoptotic erythropoiesis leading to erythroid failure, is hypothesized to be the underlying defect.
Fanconi anemia is caused by DNA repair gene mutations and is associated with a high risk of cancer, whereas Diamond-Blackfan anemia is caused by ribosomal protein gene mutations and impacts red blood cell formation.
Diamond–Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome (IBMF) first described a century ago [24,53]. DBA is one of a group of IBMF that share a triad of clinical features: bone marrow failure, congenital abnormalities and cancer predisposition (Table 1).
For some children, Diamond-Blackfan anemia can be cured by having an infusion of blood-forming stem cells from a healthy donor. This is called a stem cell transplant or bone marrow transplant or hematopoietic (him-at-oh-poy-EH-tik) cell transplant. It helps your child's bone marrow make normal blood cells.
Life expectancy. The average number of years of life remaining to a person at a particular age and based on a given set of age-specific death rates—generally, the mortality conditions existing in the period mentioned.
Can Anemia be Cured? Dr. Rokes says when anemia is acquired, and even if it's severe, it's more likely to be cured as long as the problem that's causing the anemia is controlled. “If you have a mild form of familial (genetic) anemia, like thalassemia, but are otherwise feeling well, it doesn't need to be treated.”
The disease is usually inherited in an autosomal dominant fashion. This means that individuals only need one copy of the gene variant to have DBA. Less than half are inherited from a parent, while the majority are new genetic variants (de novo) in the affected individuals.
Diamond-Blackfan anemia diagnosis
Tests to diagnose DBA include: Complete blood count (CBC) with reticulocytes: Children with DBA will usually have low hemoglobin, reduced red blood cells (RBC), and reduced reticulocytes (immature blood cells). The numbers of white blood cells and platelets are usually normal.
Emre Ali Demir
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