Diamond blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The exact cause is not clear, but the problem seems to be a fault in one of the early steps of red blood cell production. In blackfan diamond anemia the body's bone marrow produces little or no red blood cells. It has also been linked to a genetic mutation in some individuals. Severe anemia is frequently found at birth and the majority of individuals are diagnosed before their first birthday. As patients reach adulthood, they have an increased risk of developing acute leukemia or bone marrow failure. Diamond blackfan anemia effects boys and girls equally. It has been reported in virtually all ethnic groups. The estimated incidence is approximately seven in one million persons. Diamond blackfan anemia can be difficult to identify.
People with diamond blackfan anaemia have symptoms commonly for all other types anaemia, including pale skin, sleepiness, fast pulsation, and heart whispering. In about one third of children born with the disorder there are physical defects such as hand deformities or heart defects, but a clear set of signs hasn't been identified. The symptoms may also vary greatly, from very mild to severe and life-threatening. Diamond blackfan anemia is characterized by low red blood cell counts with decreased erythroid progenitors in the bone marrow. This usually develops during the neonatal period. Individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and generalized growth retardation are sometimes observed.
The diamond anaemia of Blackfan is usually diagnosed in the first two years of the life, even sometimes with the birth, is based on symptoms. The diagnosis of Blackfan diamond anemia could be recognized not in particular immediately, although, because the disturbance is rare and all physicians with it are not familiar. The first line of treatment is to give the child steroid medication, usually prednisone. The medication may suddenly stop working for the person at any time. If a person doesn't respond to steroid medication, or needs too high a dose to keep his/her red blood cell count up, the treatment becomes blood transfusions. The person then needs to take medication that takes the excess iron out of the body. The only cure available for blackfan diamond anemia is bone marrow transplantation, which replaces the person's defective bone marrow with healthy marrow.