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Published on: August 29, 2025
Sickle cell disease and cystic fibrosis
1Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia. hanaa@kfshrc.edu.sa
Insights
This report details the first case of cystic fibrosis and sickle cell disease co-occurring in an Arab patient. This rare dual diagnosis presents unique challenges and expands understanding of these genetic disorders.
Area of Science:
- Medical Genetics
- Hematology
- Pulmonology
Background:
- Cystic Fibrosis (CF) and Sickle Cell Disease (SCD) are distinct inherited conditions.
- Co-occurrence of CF and SCD is exceptionally rare, with limited global case reports.
- No prior documented instances exist within the Arab population.
Observation:
- A single patient in the Arab population presented with symptoms and diagnosis of both cystic fibrosis and sickle cell disease.
- This case marks the first documented instance of this dual diagnosis in the specified demographic.
Findings:
- The simultaneous presence of cystic fibrosis and sickle cell disease in one patient was confirmed.
- The report includes a discussion of the complications arising from this rare co-morbidity.
Implications:
- This case expands the known spectrum of genetic disease presentation in the Arab population.
- Further research into the clinical management and genetic interactions of co-existing CF and SCD is warranted.
- Highlights the importance of considering multiple genetic disorders in complex patient cases.
Abstract:
Simultaneous occurrence of both cystic fibrosis and sickle cell disease in the same patient is a rare phenomenon and has occurred only in 3 reports in the world literature. This phenomenon has never been described before in Arab population. In this report, we describe the first reported case of both diseases in one patient in the Arab population, and discuss its complications and review the literature in this aspect.
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