Novel Βeta (β)-Thalassemia Mutation in Turkish Children
نویسندگان
چکیده
منابع مشابه
Serum Lipids in Turkish Patients with β-Thalassemia Major and β-Thalassemia Minor
Conflict of Interest: The authors of this paper have no conflicts of interest, including specific financial interests, relationships, and/or affiliations relevant to the subject matter or materials included. References 1. Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis 2010;5:13. 2. Blackwell RQ, Jim RT, Tan TG, Weng MI, Liu CS, Wang CL. Hemoglobin G Waimanalo: alpha-64 Asp lead...
متن کاملβ-Thalassemia Mutation At Codon 37 (Tgg>>Tga) Detected In A Turkish Family
The β-globin gene mutation at codon 37 [TGG (Trp)→TGA (stop codon)] gives rise to a β0-thalassemia that was described first by Boehm et al. in 1986 in a Saudi Arabian family [1]. Thereafter, other nonsense codon 37 mutations have been reported [1,2,3,4]. Another mutation at codon 37 (TGG/TAG; tryptophan→stop codon) has also been reported previously [5,6]. Premature stop of translation results i...
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Low plasma levels of total cholesterol (TC) with or without hypertriglyceridemia have been frequently described in a variety of hematologic disorders in which anemia is a prominent feature.2,3 It is well established that β-thalassemia is associated with changes in plasma lipids and lipoproteins. In β-thalassemia major, low cholesterol levels caused by a significant reduction of both low-density...
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Background: Advances in treatment of thalassemia major have improved the life expectancy of the patients and therefore their quality of life as other chronic diseases. This study was conducted to assess health- related quality of life in these patients in Guilan province. Methods: In a cross-sectional study, thirty-one children, aged 8-12 years, with β-thalassemia major were interviewed i...
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Improved survival among transfusion dependent thalassemia patients in recent years has led to the manifestation of morbidities such as renal dysfunction. Renal injury is still an underestimated complication in β thalassemia major patients. Chronic anemia, iron overload due to repeated transfusion, and specific iron chelators are the main factors in pathogenesis of renal dysfunction in β thalass...
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ژورنال
عنوان ژورنال: Indian Journal of Hematology and Blood Transfusion
سال: 2014
ISSN: 0971-4502,0974-0449
DOI: 10.1007/s12288-014-0380-6