AI Article Synopsis

  • Diamond-Blackfan Anemia (DBA) is a rare genetic disorder causing severe anemia and bone marrow failure, primarily presenting in infants with various congenital anomalies.
  • The first-line treatment for DBA is corticosteroid therapy, while blood transfusions may be necessary during diagnosis or if corticosteroids are ineffective.
  • A case study highlights a DBA patient with oral mucosa lesions related to neutropenia, emphasizing the crucial role of stomatologists in monitoring patients' overall health and recognizing systemic issues linked to oral conditions.

Article Abstract

Diamond-Blackfan Anemia (DBA) is a rare heterogeneous genetic disease characterized by severe anemia, reduction or absence of erythroid progenitors, and pro-apoptoptic hematopoiesis, which culminates in bone marrow failure. The disease generally manifests in infancy, as craniofacial, cardiac, genitourinary, and upper limb congenital anomalies. Therapy with corticoids is the treatment of choice, while blood transfusion is adopted during diagnosis and as a chronic approach if the patient does not respond to corticoids. This case report describes DBA in a patient that presented with lesions on the oral mucosa caused by secondary neutropenia. The stomatologist plays an important role in a transdisciplinary team and must remain attentive to the general health conditions of patients, since some oral lesions may be associated with systemic events.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321285PMC
http://dx.doi.org/10.3121/cmr.2015.1305DOI Listing

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