A Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis
Yükleniyor...
Dosyalar
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Ferrata Storti Foundation
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
A-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.
Açıklama
Anahtar Kelimeler
Kaynak
Blood
WoS Q Değeri
Q1
Scopus Q Değeri
Cilt
114
Sayı
22
Künye
Çalışkan, 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
