Turkish Journal of Hematology Volume: 33 - Issue: 4

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Turk J Hematol 2016;33:311-319 Çalık Başaran N, et al: Infection Episodes in Cancer Patients bacteremia in hospitalized cancer patients with febrile neutropenia: a cohort study. Am J Infect Control 2014;42:74-76. 34. Anatoliotaki M, Valatas V, Mantadakis E, Apostolakou H, Mavroudis D, Georgoulias V, Rolston KV, Kontoyiannis DP, Galanakis E, Samonis G. Bloodstream infections in patients with solid tumors: associated factors, microbial spectrum and outcome. Infection 2004;32:65-71. 35. Mrázová-Studená M, Drgona L, Spánik S, Krúpová I, Baláz M, Pichna P, Koren P, Sufliarsky J, Mardiak J, Kunová A, Trupl J, Krcméry V Jr. Bacteremia in neutropenic versus nonneutropenic cancer patients: etiology and outcome in 401 episodes. Neoplasma 1997;44:314-318. 36. Velasco E, Byington R, Martins CA, Schirmer M, Dias LM, Goncalves VM. Comparative study of clinical characteristics of neutropenic and nonneutropenic adult cancer patients with bloodstream infections. Eur J Clin Microbiol Infect Dis 2006;25:1-7. 37. Marin M, Gudiol C, Ardanuy C, Garcia-Vidal C, Jimenez L, Domingo- Domenech E, Perez FJ, Carratala J. Factors influencing mortality in neutropenic patients with haematologic malignancies or solid tumours with bloodstream infection. Clin Microbiol Infect 2015;21:583-590. 38. Marin M, Gudiol C, Garcia-Vidal C, Ardanuy C, Carratala J. Bloodstream infections in patients with solid tumors: epidemiology, antibiotic therapy, and outcomes in 528 episodes in a single cancer center. Medicine (Baltimore) 2014;93:143-149. 39. Cornely OA, Gachot B, Akan H, Bassetti M, Uzun O, Kibbler C, Marchetti O, de Burghgraeve P, Ramadan S, Pylkkanen L, Ameye L, Paesmans M, Donnelly JP; EORTC Infectious Diseases Group. Epidemiology and outcome of fungemia in a cancer cohort of the Infectious Diseases Group (IDG) of the European Organization for Research and Treatment of Cancer (EORTC 65031). Clin Infect Dis 2015;61:324-331. 40. Chan TS, Marcella SW, Gill H, Hwang YY, Kwong YL. Posaconazole versus fluconazole or itraconazole for prevention of invasive fungal diseases in patients with acute myeloid leukemia or myelodysplastic syndrome: a costeffectiveness analysis in an Asian teaching hospital. J Med Econ 2016;19:77-83. 41. El-Cheikh J, Crocchiolo R, Vai A, Furst S, Bramanti S, Sarina B, Granata A, Faucher C, Mohty B, Harbi S, Bouabdallah R, Vey N, Santoro A, Chabannon C, Castagna L, Blaise D. Comparison of three distinct prophylactic agents against invasive fungal infections in patients undergoing haploidentical hematopoietic stem cell transplantation and post-transplant cyclophosphamide. Mediterr J Hematol Infect Dis 2015;7:e2015048. 42. Bow EJ, Vanness DJ, Slavin M, Cordonnier C, Cornely OA, Marks DI, Pagliuca A, Solano C, Cragin L, Shaul AJ, Sorensen S, Chambers R, Kantecki M, Weinstein D, 319
RESEARCH ARTICLE DOI: 10.4274/tjh.2015.0254 Turk J Hematol 2016;33:320-325 Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients Orak Hücreli Anemi Hastalarında Herediter Hemokromatozis Geni H63D ve C282Y Mutasyonlarının Demir Birikimi Üzerindeki Etkisi Yunus Kasım Terzi 1 , Tuğçe Bulakbaşı Balcı 1 , Can Boğa 2 , Zafer Koç 3 , Zerrin Yılmaz Çelik 1 , Hakan Özdoğu 2 , Sema Karakuş 2 , Feride İffet Şahin 1 1Başkent University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey 2Başkent University Faculty of Medicine, Department of Hematology, Ankara, Turkey 3Başkent University Faculty of Medicine, Department of Radiology, Ankara, Turkey Abstract Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p.H63D and p.C282Y mutations on transfusion-related cardiac and liver iron overload in sickle cell disease patients who carry homozygous hemoglobin S mutation has been investigated. Materials and Methods: This is a prospective single-center crosssectional study in patients with homozygous hemoglobin S mutation between the years 2008 and 2013. The patients were divided into two groups. The first group (group A, n=31) was receiving chelation therapy and the second group (group B, n=13) was not. Direct and indirect iron loads were analyzed by magnetic resonance imaging and biochemically, respectively. HFE gene mutations were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. Statistical analyses were performed by independent samples t-test. Results: p.H63D mutation was detected in 10 (32.3%) patients in group A and in only 1 patient (7.7%) in group B. When the 2 groups were compared for iron overload, iron deposition in the liver was significantly higher in group B (p=0.046). In addition, in group A, iron deposition was significantly higher in HFE mutation carriers compared to patients without the mutation (p=0.05). Conclusion: Results of this study showed that HFE gene mutations are important in iron deposition in the liver in patients with sickle cell disease. Keywords: Hemochromatosis, HFE gene, Iron overload, p.C282Y, p.H63D, Sickle cell anemia Öz Amaç: Hemokromatozis, demir birikiminin önemli nedenlerinden biri olan otozomal resesif bir hastalıktır. Orak hücreli anemi, hemoglobin genindeki homozigot mutasyon sonucu ortaya çıkan bir hemoglobinopatidir. Eritrosit transfüzyonu, bu hastalığın tedavisinde sıklıkla kullanılmaktadır. Transfüzyonun yarattığı demir yükü diğer hemoglobinopatilerde olduğu gibi orak hücreli anemi hastalarının mortalite ve morbiditesinde önem kazanmaktadır. Bu çalışmada hemokromatozis geni (HFE) p.H63D ve p.C282Y mutasyonlarının, homozigot hemoglobin S mutasyonu taşıyan orak hücreli anemi hastalarında, kalp ve karaciğerde transfüzyonla ilişkili demir yüklenmesine olan etkisi araştırılmıştır. Gereç ve Yöntemler: Bu çalışma, homozigot hemoglobin S mutasyonu olan hastalarda 2008-2013 yıllarını kapsayan prospektif, tek merkezli kesitsel bir çalışmadır. Hastalar şelasyon tedavisi alan (n=31) ve almayan (n=13) olarak iki gruba ayrıldı. Hastalarda direk ve endirekt demir yükü sırasıyla manyetik rezonans görüntüleme ve biyokimyasal olarak analiz edildi. HFE geni mutasyon analizi polimeraz zincir reaksiyonu-restriksiyon fragment uzunluk polimorfizmi yöntemleri ile gerçekleştirildi. İstatistik analizi Independent samples t-testi uygulanarak gerçekleştirildi. Bulgular: p.H63D mutasyonu grup A’da 10 hastada (%32,3), grup B’de ise sadece 1 (%7,7) hastada saptandı. Demir birikimi açısından gruplar karşılaştırıldığında karaciğerde demir birikiminin grup B’de istatistiksel olarak anlamlı derecede yüksek olduğu görülmüştür (p
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Volume 33 Issue 4 December 2016 80
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Contact Information Editorial Corre
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TURKISH JOURNAL OF HEMATOLOGY INSTR
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should include a conclusion, in whi
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as appropriate, and then click the
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335 Evaluation of Insulin-like Grow
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6 th International Congress on Leuk
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Kesik V, et al: Prognostic Markers
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