Browsing Ciències de la Salut by Author "Sánchez, Mayka"

Now showing items 1-9 of 9

    • CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia 

      Tornador, Cristian; Sánchez-Prados, Edgar; Cadenas, Beatriz; Russo, Roberta; Venturi, Veronica; Andolfo, Immacolata; Hernández-Rodriguez, Ines; Iolascon, Achille; Sánchez, Mayka (Frontiers in Physiology, 2019)
      Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid ...

    • Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3 

      Joshi, Ricky; Shvartsman, Maya; Morán, Erica; Lois, Sergi; Aranda, Jessica; Barqué, Anna; De la Cruz, Xavier; Bruguera, Miquel; Vagace, José Manuel; Gervasini, Guillermo; Sanz, Cristina; Sánchez, Mayka (Molecular Genetics & Genomic Medicine, 2015)
      Hereditary hemochromatosis (HH) type 3 is an autosomal recessive disorder of iron metabolism characterized by excessive iron deposition in the liver and caused by mutations in the transferrin receptor ...

    • Haemochromatosis patients' research priorities: Towards an improved quality of life 

      Romero-Cortadellas, Lídia; Venturi, Veronica; Martín-Sánchez, Juan Carlos; Toska, Ketil; Prince, Dianne; Butzeck, Barbara; Porto, Graça; Thorm Milman, Nils; HI/EFAPH Survey Committee; Sánchez, Mayka (Health Expectations, 2023)
      Background: Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically ...

    • Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III 

      Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; Pérez De Soto, Concepción; Morales-Camacho, Rosario M.; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A.; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka (Haematologica, 2023)
      Congenital dyserythropoietic anemia type III (CDA III) is one of the rarest types of CDA. The autosomal dominant form of CDA III, is due to mono-allelic mutations in the KIF23 gene (MIM:105600); two ...

    • New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II 

      Mara Musri, Melina; Venturi, Veronica; Ferrer-Cortès, Xènia; Romero-Cortadellas, Lídia; Hernández, Gonzalo; Leoz, Pilar; Ricard Andrés, María Pilar; Morado, Marta; Fernández Valle, María del Carmen; Beneitez Pastor, David; Ortuño Cabrero, Ana; Moreno Gamiz, Maite; Senent Peris, Leonor; Perez-Valencia, Amanda Isabel; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka (International Journal of Molecular Sciences, 2023)
      Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by ...

    • New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis 

      Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Floor Pilquil, Martin; Muñoz Torres, Pau Marc; Hernandez Rodríguez, Ines; Ruiz Mínguez, Maria Àngels; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Plensa Alberca, Esther; Gener Ricós, Georgina; Cañamero Giró, Eloi; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka (Genes, 2021)
      Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ...

    • Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome 

      Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica; Benet Campos, Carmen; Risse, Frank; Morán, Érica; Muckenthaler, Martina U.; Sánchez, Mayka (Orphanet Journal of Rare Diseases, 2013)
      Background: Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease ...

    • Population screening for hemochromatosis: a study in 5370 Spanish blood donors 

      Sánchez, Mayka; Villa, Margarita; Ingelmo, Mercedes; Sanz, Cristina; Bruguera, Miquel; Ascaso, Carlos; Oliva, Rafael (Journal of Hepatology, 2003)
      Background/Aims: Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body. We ...

    • The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2 

      Oliva, Rafael; Novials, Anna; Sánchez, Mayka; Villa, Marga; Ingelmo, Mercedes; Recasens, Mónica; Ascaso, Carlos; Bruguera, Miquel; Gomis, Ramón (Endocrine, 2004)
      We initiated the present work to determine whether the presence of the HFE C282Y or H63D mutations could be related to the clinical expression of diabetes mellitus type 2. Two hundred and twenty five ...