Serum ferritin and transferrin saturation levels in β0 and β + thalassemia patients
| Autor: | I F Estevão, C R Bonini-Domingos, P Peitl Junior |
|---|---|
| Přispěvatelé: | Universidade Estadual Paulista (Unesp) |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Male
Thalassemia polymerase chain reaction Transferrin saturation Gene mutation single nucleotide polymorphism iron metabolism gene mutation chemistry.chemical_classification Aged 80 and over beta thalassemia biology beta globin Age Factors Beta thalassemia General Medicine Middle Aged female mutational analysis Adult congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Heterozygote high performance liquid chromatography sex difference Iron Beta-thalassemia hemochromatosis Sex Factors Internal medicine Genetics medicine heterozygosity Humans transferrin controlled study human Molecular Biology Hemochromatosis transferrin blood level Hemojuvelin Aged Ferritin hemojuvelin medicine.disease Molecular biology major clinical study clinical feature ferritin blood level Endocrinology chemistry age Transferrin Ferritins Mutation biology.protein Hyperferritinemia |
| Zdroj: | Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP |
| Popis: | Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:25:52Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:36:15Z : No. of bitstreams: 1 2-s2.0-79955866763.pdf: 340132 bytes, checksum: a55e95fed54c9b8db86d0bf8bdb9203f (MD5) Made available in DSpace on 2014-05-27T11:25:52Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-05-16 There have been few studies on the mutations that cause heterozygous beta-thalassemia and how they affect the iron profile. One hundred and thirty-eight individuals were analyzed, 90 thalasemic β0 and 48 thalasemic β+, identified by classical and molecular methods. Mutations in the hemochromatosis (HFE) gene, detected using PCR-RFLP, were found in 30.4% of these beta-thalassemic patients; heterozygosity for H63D (20.3%) was the most frequent. Ferritin levels and transferrin saturation were similar in beta-thalassemics with and without mutations in the HFE gene. Ferritin concentrations were significantly higher in men and in individuals over 40 years of age. Transferrin saturation also was significantly higher in men, but only in those without HFE gene mutations. There was no significant difference in the iron profile among the β0 and β+ thalassemics, with and without HFE gene mutations. The frequency of ferritin values above 200 ng/mL in women and 300 ng/mL in men was also similar in β0 and β+ thalassemics (P > 0.72). Our conclusion is that ferritin levels are variable in the beta-thalassemia, trait regardless of the type of beta-globin mutation. Furthermore, HFE gene polymorphisms do not change the iron profile in these individuals. ©FUNPEC-RP www.funpecrp.com.br. Departamento de Biologia Universidade Estadual Paulista Júlio de Mesquita Filho, São José do Rio Preto, SP Departamento de Biologia Universidade Estadual Paulista Júlio de Mesquita Filho, São José do Rio Preto, SP |
| Databáze: | OpenAIRE |
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