Natural History of Recessive Inheritance of DMT1 Mutations
| Autor: | Carole Beaumont, C. Camaschella, Dagmar Pospisilova, Gil Tchernia, C. Piscopo, Achille Iolascon |
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| Přispěvatelé: | Iolascon, Achille, Camaschella, C, Pospisilova, D, Piscopo, C, Tchernia, G, Beaumont, C. |
| Rok vydání: | 2008 |
| Předmět: |
Erythrocytes
Genotype Anemia Physiology Genes Recessive Iron Chelating Agents Diagnosis Differential Pathogenesis hemic and lymphatic diseases medicine Humans Cation Transport Proteins Erythropoietin Genetics Anemia Hypochromic biology Transferrin saturation business.industry digestive oral and skin physiology Infant Newborn Transferrin DMT1 medicine.disease Natural history Phenotype Ferritins Mutation Pediatrics Perinatology and Child Health biology.protein Differential diagnosis business medicine.drug |
| Zdroj: | The Journal of Pediatrics. 152:136-139 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/j.jpeds.2007.08.041 |
| Popis: | DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period. |
| Databáze: | OpenAIRE |
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