A Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis

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dc.contributor.authorÇalışkan, Ümran
dc.contributor.authorTokgöz, Hüseyin
dc.contributor.authorYüksekkaya, Hasan
dc.date.accessioned2020-03-26T17:46:45Z
dc.date.available2020-03-26T17:46:45Z
dc.date.issued2009
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractA-14 years-old man, admitted to our clinic with weakness and paleness since one month. He has hepatosplenomegaly. Blood tests and peripheral blood smear showed anemia that severe hypochromic, microcytic anemia. There is ringed sideroblasts without dysplastic hematopoiesis in bone marrow cytology. Liver tests were normal. A liver biopsy showed heavy parenchymal iron deposition and gradeIII fibrosis. Screening for HFE gene mutations was negative. MR imaging demonstrated that severe iron accumulation in liver and heart. ALAS2 gene screening showed that novel mutation in exon 7 (Gly390Gly, c.1170, C#T). Eventually, was diagnosed as sideroblastic anemia and hemochromatosis. He was treated successfully with pyridoxine and chelating agent (deferasirox, IGL-670). The findings suggest that the Gly390Gly in ALAS2 mutation causes sideroblastic anemia and hemochromatosis, without hereditary hemochromatosis gene mutations. This mutation cause sideroblastic anemia is clinically pyridoxineresponsive. Deferasirox is effective agent for reduce hepatic iron loading in this condition.en_US
dc.identifier.citationÇalışkan, Ü., Tokgöz, H., Yüksekkaya, H., (2009). A Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis. Blood, 114(22), 5105-5105. Doi: 10.1182/blood.V114.22.5105.5105
dc.identifier.endpage5105en_US
dc.identifier.issn0390-6078en_US
dc.identifier.issn1592-8721en_US
dc.identifier.issue22
dc.identifier.startpage5105en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12395/24537
dc.identifier.volume114en_US
dc.identifier.wosWOS:000279051302508en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.institutionauthorÇalışkan, Ümran
dc.institutionauthorTokgöz, Hüseyin
dc.institutionauthorYüksekkaya, Hasan
dc.language.isoenen_US
dc.publisherFerrata Storti Foundationen_US
dc.relation.ispartofBlooden_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.titleA Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosisen_US
dc.typeConference Objecten_US

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