Show simple item record

dc.contributor.authorTerzi, Yunus Kasim
dc.contributor.authorBalci, Tugce Bulakbasi
dc.contributor.authorBoga, Can
dc.contributor.authorKoc, Zafer
dc.contributor.authorCelik, Zerrin Yilmaz
dc.contributor.authorOzdogu, Hakan
dc.contributor.authorKarakus, Sema
dc.contributor.authorSahin, Feride Iffet
dc.date.accessioned2019-06-20T07:57:07Z
dc.date.available2019-06-20T07:57:07Z
dc.date.issued2016
dc.identifier.issn1300-7777
dc.identifier.urihttps://www.journalagent.com/tjh/pdfs/TJH_33_4_320_325.pdf
dc.identifier.urihttp://hdl.handle.net/11727/3611
dc.description.abstractObjective: 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 cross-sectional 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.en_US
dc.language.isoengen_US
dc.relation.isversionof10.4274/tjh.2015.0254en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHemochromatosisen_US
dc.subjectHFE geneen_US
dc.subjectIron overloaden_US
dc.subjectp.C282Yen_US
dc.subjectp.H63Den_US
dc.subjectSickle cell anemiaen_US
dc.titleEffect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patientsen_US
dc.typearticleen_US
dc.relation.journalTURKISH JOURNAL OF HEMATOLOGYen_US
dc.identifier.volume33en_US
dc.identifier.issue4en_US
dc.identifier.startpage320en_US
dc.identifier.endpage325en_US
dc.identifier.wos000392282500009


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record