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.
Many people with DBA also experience poor growth resulting in lessthanexpected height.
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 thediagnosis of DBA. Initially, blood work is performed to evaluate the degree of anemia and examine other bodysystems. One particular blood test called the red cell ADA (adenosine deaminase) is usually present atelevated levels in patients with DBA. In addition to blood tests, samples of bone marrow (Bone MarrowAspirate 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 biopsiescan 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 ahigher percentage of fetal hemoglobin (HbF) than normal, all which can be tested through bloods and bonemarrow biopsies. Doctors may also check the reticulocyte count. High reticulocyte counts point to conditionswhere 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.
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.
Recent research from Massachusetts General Hospital in Boston, US, suggests that getting enough sleep at nights connected to the decreased risk of developing atherosclerosis, a condition in which plaque builds up on the inner walls of the arteries. For the study, a...
A new study from Portland State University in Oregon suggests that the Western diet can increase severity of sepsis, which is also called as blood poisoning. For the study, researchers fed mice the equivalent of a Western diet which included a lot of fat and sugar had...
In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...
It is time for us to find the solution how to deal with extra weight which is coming with Christmas and New Year’s celebrations because 2018 is almost over and 2019 is getting closer. The main aim is obviously staying in shape and today will find an effective way to...
We know that moderate exercise strengthens our health and makes us more beautiful. But few know about the importance of doing sports as psychotherapy. And, nevertheless, physical loads can save from depressions, reduce anxiety, relieve from professional burnout,...
All original content on these pages is fingerprinted and certified by Digiprove