Definition:
Diamond-Blackfan Disease (DBA) is also called congenital erythroid aplasia that is present in infancy. That is caused by low red blood cell counts or anemia.
Diagnosis:
There are two screening used to identify DBA. In blood testing, it will show low reticulocyte and erythroid precursers found in the bone marrow, macrocytosis, increased fetal hemoglobin, increase level of adenodine deaminase and the presence of congenital abnormalities. Patient with DBA are mostly diagnose during their second year of life.
Treatment:
Patient with DBA can choose the following options to manage the disorder: maintain Corticosteriod medication, patient can also have Blood transfusion but frequent transfusion can lead to iron over load and cause organ damage and Bone marrow transplantation is a very invasive procedure is the last option of the patient especially if the patient is experiencing iron over load. All of this options are responsible to increase the red blood cell count of the body.
Symptoms and Signs:
It is characterized by anemia associated with declined erythroid progenitors. Some of the characteristics are craniofacial malformations, thumb or upper limb abnormalities, cardiac defect, urogenital malformation and cleft palate.
Causes:
Occurring among members of a family usually by heredity .
