ARC Journal of Hematology Volume 3, Issue 1, 2018, PP 1-7 www.arcjournals.org ARC Journal of Hematology Page|1 Tissue Iron Distribution and Quantification in Children with Rare Congenital Anemias by Means of R2-MR Imaging Olympia Papakonstantinou 1* , Konstantina Foufa 1 , Vasiliki Bizimi 1 , Efie Rigatou 2 , Sophia Delicou 2 , StavroulaKostaridou 3 , Efthymia Alexopoulou 1 , Nikolaos L. Kelekis 1 , Sophia Polychronopoulou 2 1 2nd Department of Radiology, National and Kapodistrian University of Athens, Greece 2 Department of Pediatric Hematology/Oncology, ʺAghia Sophia” Children's Hospital, Athens, Greece 3 PediatricDepartment Children’s General Hospital of Penteli, Athens, Greece 1. INTRODUCTION Rare congenital anemias other than hemoglinopathies, including FanconAnemia (FA), plasticAnemia (AA), DiamondBlackfanAnemia (DBA) and CongenitalDyserythropoieticAnemia (CDA), comprise an heterogenous group of hereditary anemias characterized by red cell or multiple age hypoplasia with or without morphologic abnormalities of erythroblasts and often associate with developmental abnormalities [1-5]. They require regular red blood cell transfusions to prolong survival, which, in turn leads to significant iron overload in vital organs such as liver, heart, pancreas and endocrine glands [5-8].The toxic effects of iron can be compromised with administration of chelation therapy but side effects are not uncommon [9- 10]. Therefore, regular and accurate monitoring of iron status is imperative for patient management [6-8]. Quantitative MR imaging has emerged as a non invasive means for quantification of tissue iron overload and has largely substituted liver biopsy [11]. However, despite numerous reports in thalassemia, sickle cell disease, hematologic malignancies or hereditary hemochromatosis [12- 23], there have been limited data on MR quantification and distribution of iron in multiple transfused patients with rare congenital anemias other than hemoglobinopathies [6-8,19,23]. In this study, we applied R2 relaxometry to assess tissue iron in young patients with rare congenital anemias, including FA, AA, DBA and CDA. Our objectives are: (a) to investigate the degree of iron overload in liver, spleen, Abstract Purpose: To describe patterns of iron distribution among liver, spleen, pancreas, bone marrow (BM) and myocardium with Quantitative MR- R2 relaxometry, in seven patients with rare congenital anemias other than hemoglinopathies. Methods: We retrieved the Quantitative MR imaging studies of seven patients with rare congenital anemias, including Diamond Blackfan anemia (n=2), Fanconianemia (n=3), aplastic anemia (n=1), congenital dyserythropoietic anemia (n=1) and six healthy controls. Patients’ serum ferriti n levels closest to MR examination were also recorded. Results: Liver R2 values were increased in all patients, splenic R2 in six and pancreatic and VBM R2 in five patients, respectively (> mean +2SD of R2s of controls). No decrease of myocardial R2 values was revealed. Pancreatic R2 values correlated with hepatic and VBM R2 (r=0.775, p<0.05 and r=0.82, p<0.05) whereas serum ferritin correlated only with hepatic and pancreatic R2 (r=0.75, p<0.05 and r=0.88, p<0.008). Conclusions: Iron overload, as expressed by R2 relaxation time values, was found to present non uniform patterns of iron distribution between liver, spleen, pancreas and VBM in patients with rare congenital anemias other than hemoglinopathies. hepatic and pancreaticsiderosis were found to correlate with total iron stores in contrast to findings with larger series of patients with hemoglinopathies. Keywords: Fanconi, Diamond Blackfan, Dyserythropoieticanemia, type II (CDA, II), R2 relaxometry, iron overload. *Corresponding Author: Olympia Papakonstantinou, 2ndDepartment of Radiology, National and Kapodistrian University of Athens, Greece, Email: sogofianol@gmail.com