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Dental Manifestations and Clinical Implications of Diamond-Blackfan Anemia
Jade Quearney1, Carolyn Kerins1
1Department of Pediatric Dentistry, Texas A&M University, Dallas, Texas, USA.
Insights
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome affecting red blood cell production. This case report reviews its dental manifestations and challenges for dental practitioners.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome.
- It is characterized by reduced red blood cell production due to bone marrow dysfunction.
- DBA affects 5-7 per million live births annually, often diagnosed in infancy but can present later.
Purpose of the Study:
- To review the existing literature on Diamond-Blackfan anemia.
- To highlight the dental manifestations and implications of DBA.
- To inform dental practitioners about challenges in managing DBA patients.
Main Methods:
- Literature review on Diamond-Blackfan anemia.
- Analysis of clinical and genetic findings related to DBA.
- Synthesis of information on dental aspects of DBA.
Main Results:
- DBA presents with diverse features, including physical characteristics.
- Limited literature exists on the specific dental manifestations of DBA.
- Molecular testing aids in adult DBA diagnosis.
Conclusions:
- Dental practitioners require awareness of DBA's oral implications.
- Further research is needed to fully understand DBA's dental impact.
- Improved understanding can enhance dental care for DBA patients.
Abstract:
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome. It is part of a group of genetic disorders characterized by a decrease in red blood cells due to bone marrow malfunction. It affects five to seven live births per million per year. Pediatric patients are typically diagnosed within the first year of life; however, clinical manifestations can present at any age. Advances in molecular testing have increased the ability to identify Diamond-Blackfan anemia variants in adults. Patients with the disease have a wide range of features, including distinct physical characteristics; however, there is limited literature highlighting the dental manifestations and implications of the disease. Therefore, the purpose of this case report is to review the literature on Diamond-Blackfan anemia and highlight the unique challenges that dental practitioners may face in the delivery of dental care.
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