Diamond-Blackfan anemia

Diamond-Blackfan Anemia Description, Causes and Risk Factors: Abbreviation: DBA. Alternative Names: Congenital hypoplastic anemia, chronic congenital erythrogenesis imperfecta, inherited erythroblastopenia, familial hypoplastic anemia, pure red cell anemia, erythrogenesis imperfecta. Diamond-Blackfan Anemia (DBA) is a blood condition, present at birth, which is characterized by a failure of the bone marrow to produce red blood cells, other blood cells such as white cells and platelets are usually not affected. Blackfan Diamond anemia affects approximately 700 - 800 people worldwide. Diamond-Blackfan Anemia affects boys and girls equally, and it's reported in virtually all ethnic groups. It is a rare disease that affects approximately 5-7 children per one million. By itself, the term "anemia" means low red cell counts. Unlike other types of anemia, Diamond-Blackfan Anemia is a bone marrow failure syndrome. It has also been linked to a genetic mutation in some individuals. Severe anemia is frequently found at birth. DBA occurs when the bone marrow fails to make adequate numbers of red blood cells. Scientists are currently studying the genes involved in DBA to see why it occurs. RPS19, RPS19 gene provides instructions for making a protein called ribosomal protein S19. It has been linked in 25% of Diamond-Blackfan Anemia cases but not having this gene does not mean you do not have DBA. There are more than 2 different genes responsible for DBA: RPS19, RPS24, RPS17 and others. 40% of the patients with DBA have a mutation in a gene or genes located in a wide region in the short arm of chromosome 8 (8p22.3-23) but a candidate gene has not been identified yet. There has been no success in pinpointing the genetic defect in the Diamond-Blackfan Anemia patients who have neither RPS19 mutation nor chromosome 8p22.3-23 mutation. Research into the cause of Diamond-Blackfan Anemia and other related bone marrow failures is being carried out at several centers internationally. Indirectly, it may lead to better understanding of the condition, and in turn better treatments or cures. Symptoms:
  • There are physical defects such as hand deformities or heart defects. The symptoms may also vary greatly, from very mild to severe and life-threatening.
  • Fatigue.Diamond-Blackfan Anemia
  • Irritability.
  • Irregular heartbeat.
  • Breathing difficulty.
  • Many people with DBA also experience poor growth resulting in less than expected height.
  • Confusion.
  • Anxiety.
Diagnosis: Differential diagnoses include Parvovirus infection, Transient erythroblastopenia of childhood. In addition to a complete history and physical examination, other diagnostic tests are used to aid in the diagnosis of DBA. Initially, blood work is performed to evaluate the degree of anemia and examine other body systems. One particular blood test called the red cell ADA (adenosine deaminase) is usually present at elevated levels in patients with DBA. In addition to blood tests, samples of bone marrow (Bone Marrow Aspirate and Biopsy) are taken to examine all of the blood cell lines (red cells, white cells, and platelets), genetic make up of the bone marrow, and the physical architecture of the bone marrow. Bone marrow biopsies can confirm that the erythroid (red cell) precursors are depleted, which can point to viral infection (Parvovirus B19 or Diamond-Blackfan Anemia. Diamond-Blackfan Anemia sufferers usually have a very high mean cell volume (MCV so tend to have larger red blood cells, and a higher percentage of fetal hemoglobin (HbF) than normal, all which can be tested through bloods and bone marrow biopsies. Doctors may also check the reticulocyte count. High reticulocyte counts point to conditions where blood is being created normally but is being destroyed. Low counts indicate a lack of red cell production. In DBA, reticulocyte counts are very low, and can be zero. Treatment: Specific treatment for Diamond-Blackfan Anemia and its complications will be determined by your child's physician based on:
  • Your child's age, overall health, and medical history.
  • Extent of the disease.
  • Your child's tolerance for specific medications, procedures, or therapies.
  • Expectations for the course of the disease.
  • Your opinion or preference.
Treatment Options Include:
  • Corticosteroid Therapy.
  • Chelation.
  • Blood Transfusion Therapy.
  • Stem Cell Transplant.
  • Remission.
Additional treatment alternatives are currently being studied. Pharmaceutical research is practically non-existent, due to the small number of Diamond-Blackfan Anemia sufferers worldwide. However, pharmaceutical research into related conditions may lead to better treatment for DBA patients, especially related to transfusions and chelation therapy. Disclaimer: The above information is just informative purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.  

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