Balkan Journal of Medical Genetics

DIAGNOSIS OF FANCONI’S ANEMIA BY DIEPOXYBUTANE ANALYSIS IN CHILDREN FROM SERBIA
Cirkovic S1,*, Guc-Scekic M1,2, Vujic D3,5, Ilic N1, Micic D4, Skoric D6, Jovanovic A4
*Corresponding Author: Sanja Cirkovic, Department of Medical Genetics, Mother and Child Health Care Institute of Serbia “Dr Vukan Cupic”, Radoja Dakica 6-8 st., 11070 Belgrade, Serbia; Tel.: +381-11-3108-273; Mobile tel.: +381-62-860-1180; E-mail: genetikaimd@beotel.rs, sanja.s.cirkovic@gmail.com
page: 65

INTRODUCTION

Fanconi’s anemia (MIM ID #227650) (FA) is a rare autosomal recessive and a rarely X-linked recessive chromosomal breakage disorder, found in 20 to 30% of children with inherited aplastic anemias (AA) [1,2]. The phenotypic heterogeneity of FA presents an appearance of peripheral pancytopenia, progressive bone marrow failure (BFM), developmental abnormalities, short stature and increased predisposition to cancer [2]. Fanconi’s anemia is a genetically heterogeneous disease, as 15 different FA complementary groups and corresponding genes have been currently identified [3-6]. The literature provides evidence that FA is an oxidative stress-related disease, defective for repair of oxidative DNA damage, confirming a direct link between reactive oxygen species (ROS) formation, oxidative DNA damage and chromosomal breakages [7-10]. One of the main features of FA cells is an elevated incidence of spontaneous chromosomal aberrations, which could be further triggered by interstrand crosslinks (ICL) inducing agents such as diepoxybutane (DEB), mitomycin C (MMC), cisplatin and melphalan [11,12]. High sensitivity of FA cells to cytotoxic and clastogenic effects of ICL agents, provides a unique cellular marker that is used to distinguish FA from other BFM and chromosomal breakage syndromes [13]. In this study we used the DEB-induced chromosome fragility test for differential diagnosis of FA in Serbian children with clinical suspicion of FA.

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