The Experts below are selected from a list of 321 Experts worldwide ranked by ideXlab platform

Hossein Najmabadi - One of the best experts on this subject based on the ideXlab platform.

Masoud Garshasbi - One of the best experts on this subject based on the ideXlab platform.

Carole Beaumont - One of the best experts on this subject based on the ideXlab platform.

  • nonsense mutation in the a novel type of congenital Hypochromic Anemia associated with a
    2012
    Co-Authors: Hermann Heimpel, Gilles Hetet, Caroline Kannengiesser, Claire Oudin, Adam Telerman, Peter Nielsen, Elisabeth Kohne, Carole Beaumont
    Abstract:

    doi:10.1182/blood-2011-01-329011Prepublished online October 26, 2011;2011 118: 6660-6666€€€€Balser and Hermann HeimpelRodrigues-Ferreira, Robert Amson, Adam Telerman, Peter Nielsen, Elisabeth Kohne, Christina Bernard Grandchamp, Gilles Hetet, Caroline Kannengiesser, Claire Oudin, Carole Beaumont, Sylvie€

  • a novel type of congenital Hypochromic Anemia associated with a nonsense mutation in the steap3 tsap6 gene
    Blood, 2011
    Co-Authors: Bernard Grandchamp, Carole Beaumont, Gilles Hetet, Caroline Kannengiesser, Claire Oudin, Sylvie Rodriguesferreira, Robert Amson, Adam Telerman, Peter Nielsen, Elisabeth Kohne
    Abstract:

    STEAP3/TSAP6 encodes a ferrireductase that is involved in the acquisition of iron by developing erythroblasts and steap3/tsap6 null-mice display severe microcytic Anemia. We report a family in which 3 siblings born to healthy parents display transfusion-dependent Hypochromic Anemia. A nonsense STEAP3/TSAP6 was identified in the siblings at the heterozygous state. This mutation was inherited from their father while no mutation was found in their mother. A large variability of expression was found between normal alleles in a control population, confirming a previous report that STEAP3/TSAPS6 is an expressed quantitative trait locus (e-QTL). Determination of the relative allele expression showed that the "normal" allele was expressed at a significantly higher level in the father than in the affected siblings relative to the shared mutated allele. The blood level of STEAP3/TSAP6 mRNA was severely reduced in the siblings, while both parents were in the lower range of normal controls. The STEAP3/TSAP6 protein was also reduced in lymphocytic cell lines from the patients. Collectively, our data support the hypothesis that STEAP3/TSAP6 deficiency leads to severe Anemia in the affected siblings and results from the combination of a mutated allele inherited from their father and a weakly expressed allele inherited from their mother.

  • Natural History of Recessive Inheritance of DMT1 Mutations
    The Journal of pediatrics, 2008
    Co-Authors: Achille Iolascon, Gil Tchernia, C. Camaschella, D. Pospisilova, C. Piscopo, Carole Beaumont
    Abstract:

    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.

  • Two new human DMT1 gene mutations in a patient with microcytic Anemia, low ferritinemia, and liver iron overload.
    Blood, 2006
    Co-Authors: Carole Beaumont, Jean Delaunay, Gilles Hetet, Bernard Grandchamp, Mariane De Montalembert, Gil Tchernia
    Abstract:

    DMT1 mediates the pH-dependent uptake of Fe(2+) from the diet in duodenal enterocytes and in most other cells. It transfers iron from the endosomes to the cytosol following the uptake of the transferrin-transferrin receptor complex. DMT1 mutations are responsible for severe Hypochromic microcytic Anemia in rodents and in 2 human patients described recently. We report a compound heterozygote for 2 new DMT1 mutations, associated with microcytic Anemia from birth and progressive liver iron overload. The first mutation is a GTG deletion in exon 5, leading to the V114 in-frame deletion in transmembrane domain 2, and the second is a G --> T substitution in exon 8 leading to the G212V replacement in transmembrane domain 5. Together with the 2 previously reported cases, this patient defines a new syndrome of congenital microcytic Hypochromic Anemia, poorly responsive to oral iron treatment, with liver iron overload associated paradoxically with normal to moderately elevated serum ferritin levels.

Christian Oberkanins - One of the best experts on this subject based on the ideXlab platform.

Maryam Neishabury - One of the best experts on this subject based on the ideXlab platform.