Erytrocyte-related phenotypes and genetic susceptibility to thrombosis

Autor: Angel F. Remacha, M. Pilar Sardà, Josep F. Nomdedeu, Jordi Fontcuberta, Nuria Pujol-Moix, José Manuel Soria, Andrey Ziyatdinov, Juan Souto, Joan Millón, Noelia Vilalta

Publikováno v: BLOOD CELLS MOLECULES AND DISEASES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Venous thromboembolism(VTE) is a common disease that involves the interaction of genetic and environmental risk factors. Previous studies have estimated a heritability of approximately 60% for the risk of VTE. Using variance analysis, intermediate ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e68af95ec73ecb3f711d44a6091f310
https://doi.org/10.1016/j.bcmd.2016.04.006

Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes?

Autor: Angel F. Remacha, Angels Ruiz, Albert Altés, Montserrat Baiget, Anna Esteve, Vanessa Bach, M. Pilar Sardà, Jordi Félez

Publikováno v: ANNALS OF HEMATOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Most hereditary haemochromatosis patients are homozygous for the C282Y mutation of the HFE gene. However, the phenotypic expression and clinical aggressiveness of the disease differs considerably from patient to patient. The main objective of this wo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9ed9b11593a8d3c91d01b9b003dce3
https://doi.org/10.1007/s00277-008-0590-9

Influence of cobalamin deficiency compared with that of cobalamin absorption on serum holo-transcobalamin II

Autor: Angel F. Remacha, M. Pilar Sardà, Ralph Carmel, Xinke Chen

Publikováno v: The American Journal of Clinical Nutrition. 81:110-114

BACKGROUND Cobalamin attached to transcobalamin II (TC II), known as holo-TC II, is the active cobalamin fraction taken up by tissues. Holo-TC II is also the form in which absorbed cobalamin enters the circulation from the ileum. Therefore, holo-TC I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d1a17c2825d10bac082554e02a402ec
https://doi.org/10.1093/ajcn/81.1.110

Genotype-phenotype correlation in a Spanish population homozygous for the H63D mutation of the HFE gene

Autor: M. Jesús Barceló, M. Pilar Sardà, Irene Blesa, Albert Altés, Montserrat Baiget, Carlos Guarner, Angel F. Remacha, Vanessa Bach

Publikováno v: Annals of hematology. 85(5)

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with excessive cellular iron levels resulting in tissue damage [1–3]. In 1996, Feder et al. showed that in most HH patients, the HFE gene is mutated in position 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c0365950976bf37390f787a92d5b2f7
https://pubmed.ncbi.nlm.nih.gov/16523311

Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation

Autor: Elisenda Moliner, Juan Parra, Angel F. Remacha, Montserrat Torrent, E Muniz-Diaz, Isabel Badell, Angel Hernandez, Gemma Ginovart, M. Pilar Sardà, Nuria Pujol-Moix

Publikováno v: Blood. 100(1)

Hydrops fetalis is rarely caused by congenital dyserythropoietic anemia (CDA). We report a patient with hydrops fetalis as a result of severe anemia. This patient needed intrauterine transfusions from 21 weeks of gestation until birth. The hematologi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::812f3e07508454988453743b023a4c31
https://pubmed.ncbi.nlm.nih.gov/12070051