Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.

Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. Haematologica. 2019 Sep 26;: Authors: Steinberg-Shemer O, Goldberg TA, Yacobovich J, Levin C, Koren A, Revel-Vilk S, Ben-Ami T, Kuperman AA, Shkalim Zemer V, Toren A, Kapelushnik J, Ben-Barak A, Miskin H, Krasnov T, Noy-Lotan S, Dgany O, Tamary H Abstract Fanconi anemia, an inherited bone marrow failure syndrome, caused by mutations in DNA repair genes, is characterized by congenital anomalies, aplastic anemia, high risk of malignancies and extreme sensitivity to alkylating agents. We aimed to study the clinical presentation, molecular diagnosis and genotype-phenotype correlation among patients with Fanconi anemia from the Israeli inherited bone marrow failure registry. Overall, 111 patients of Arab (57%) and Jewish (43%) descent were followed for a median of 15 (range 0.1-49) years; sixty-three percent were offspring of consanguineous parents. One-hundred patients (90%) had at least one congenital anomaly. Over eighty percent of the patients developed bone marrow failure; 53% underwent hematopoietic stem-cell transplant. Thirty percent of the patients developed cancer; no significant association was found between hematopoietic stem-cell transplant and solid tumor development. Nearly 95% of the patients tested had confirmed mutations in the Fanconi genes FANCA (67%), FANCC (13%), FANCG (14%), FANCJ (3%) and FANCD1 (2%), i...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research