Diamond- Blackfan-Anemia

Acronym: DBA
ORPHANET code: 124
OMIM code: 105650, 606129, 606164, 610629, 612527, 612528, 612561, 612562, 612563, 613308, 613309
ICD-10 code: D61.0
Group: Erythropoietic defects
Subgroup: Congenital pure red cell aplasia

What causes the disease and how common is it?
Diamond–Blackfananemia (DBA) is a kind of arregenerativeanemia due to decreased erythroid progenitors in the bone marrow. This usually develops during the neonatal period and. DBA patients have a modest risk of developing leukemia and other malignancies. With the exception of DBA rarely arising from mutation of transcription factor GATA1,(add citation) DBA arises from abnormalribosomal protein genes. The disease is characterized by genetic heterogeneity, affecting different ribosomal gene loci.
What are the most frequent symptoms if I have the disease?
DBA causes lowred blood cell counts and haemoglobin (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconianemia, where all cell lines are affected resulting in pancytopenia.Aabout 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate.

Which treatment must I follow if I have the disease?
Corticosteroids can be used to treat anemia in DBA. In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted.[24] Some patients remained responsive to steroids, while efficacy waned in others. Blood transfusions can also be used to treat severe anemia in DBA. Periods of remission may occur, during which transfusions and steroid treatments are not required. Bone marrow transplantation (BMT) can cure hematological aspects of DBA.
What is the risk of passing the condition on to my children?
Frequency of DBA is about 1/1000,000 individuals Most pedigrees suggest an autosomal dominant mode of inheritance with incomplete penetrance. Approximately 10–25% of DBA occurs with a family history of disease.