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Title: Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes
Authors: Farah, Roula A
Nair, Pratibha
Koueik, Jack
Yammine, Tony
Khalifeh, Hassan
Korban, Rima
Collet, Agnes
Khayat, Claudia
Dubois-Denghien, Catherine
Chouery, Eliane
Blanluet, Maud
El-Hayek, Stephany
Stoppa-Lyonnet, Dominique
Megarbane, Andre
Affiliations: Faculty of Medicine 
Keywords: Bone marrow failure
Fanconi anemia
Issue Date: 2021
Part of: Journal of Pediatric Hematology/Oncology
Volume: 43
Issue: 5
Start page: e727
End page: e735
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and presents with cytopenias, characteristic physical features, increased chromosomal breaks, and a higher risk of malignancy. Genetic features of this disease vary among different ethnic groups. We aimed to identify the incidence, outcome, overall condition, and genetic features of patients affected with FA in Lebanon to optimize management, identify the most common genes, describe new mutations, and offer prenatal diagnosis and counseling to the affected families. Over a period of 17 years, 40 patients with FA were identified in 2 major diagnostic laboratories in Lebanon. Information was obtained on their clinical course and outcome from their primary physician. DNA was available in 20 patients and was studied for underlying mutations. FANCA seemed to be the most frequent genetic alteration and 2 novel mutations, one each in FANCA and FANCG, were identified. Nine patients developed various malignancies and died. This is the first study looking at clinical and genetic features of FA in Lebanon, and points to the need for establishing a national and regional registry for this condition.
ISSN: 10774114
DOI: 10.1097/MPH.0000000000001909
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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