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Diamond-Blackfan anemia RPL35A: a case report
1Department of General / Transplant Surgery, University of Cape Town and Groote Schuur Hospital, J-Floor, Old Main Building, Observatory, Cape Town, 7925, South Africa. drcbnoel@gmail.com.
Journal of Medical Case Reports
|June 19, 2019
Summary
This case study details the first documented Diamond-Blackfan anemia in a South African girl, caused by an RPL35A gene deletion. It highlights diagnostic challenges in resource-limited settings for this rare congenital red blood cell aplasia.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Diamond-Blackfan anemia is a rare congenital red blood cell aplasia with variable clinical and genetic presentations.
- Current treatments include corticosteroids, transfusions, and stem cell transplantation, with gene therapy emerging.
Observation:
- A 6-week-old Caucasian girl presented with urosepsis, heart failure, severe anemia, and neutropenia.
- Diagnosis was delayed due to limited resources, unfamiliarity with rare diseases, and a broad differential diagnosis.
- Genetic testing confirmed a sporadic heterozygous whole gene deletion in RPL35A.
Findings:
- This is the first reported case of Diamond-Blackfan anemia in South Africa.
- The patient's condition resulted from a novel RPL35A gene deletion.
- Initial management involved red blood cell transfusions.
Implications:
- This case underscores Diamond-Blackfan anemia as a critical differential diagnosis for aplastic anemia in infants.
- It highlights significant obstacles in diagnosing rare diseases in resource-limited countries.
- There is a need for standardized treatment protocols for Diamond-Blackfan anemia in developing nations.
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