%0 Journal Article %J Haematologica %D 2014 %T Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. %A Noris, Patrizia %A Schlegel, Nicole %A Klersy, Catherine %A Heller, Paula G %A Civaschi, Elisa %A Pujol-Moix, Núria %A Fabris, Fabrizio %A Favier, Rémi %A Gresele, Paolo %A Latger-Cannard, Véronique %A Cuker, Adam %A Nurden, Paquita %A Greinacher, Andreas %A Cattaneo, Marco %A De Candia, Erica %A Pecci, Alessandro %A Hurtaud-Roux, Marie-Françoise %A Glembotsky, Ana C %A Muñiz-Diaz, Eduardo %A Randi, Maria Luigia %A Trillot, Nathalie %A Bury, Loredana %A Lecompte, Thomas %A Marconi, Caterina %A Savoia, Anna %A Balduini, Carlo L %A Bayart, Sophie %A Bauters, Anne %A Benabdallah-Guedira, Schéhérazade %A Boehlen, Françoise %A Borg, Jeanne-Yvonne %A Bottega, Roberta %A Bussel, James %A De Rocco, Daniela %A de Maistre, Emmanuel %A Faleschini, Michela %A Falcinelli, Emanuela %A Ferrari, Silvia %A Ferster, Alina %A Fierro, Tiziana %A Fleury, Dominique %A Fontana, Pierre %A James, Chloé %A Lanza, Francois %A Le Cam Duchez, Véronique %A Loffredo, Giuseppe %A Magini, Pamela %A Martin-Coignard, Dominique %A Menard, Fanny %A Mercier, Sandra %A Mezzasoma, Annamaria %A Minuz, Pietro %A Nichele, Ilaria %A Notarangelo, Lucia D %A Pippucci, Tommaso %A Podda, Gian Marco %A Pouymayou, Catherine %A Rigouzzo, Agnes %A Royer, Bruno %A Sie, Pierre %A Siguret, Virginie %A Trichet, Catherine %A Tucci, Alessandra %A Saposnik, Béatrice %A Veneri, Dino %K Adult %K Female %K Humans %K Infant, Newborn %K Pregnancy %K Pregnancy Complications, Hematologic %K Retrospective Studies %K Thrombocytopenia %K Young Adult %X

Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 10(9)/L.

%B Haematologica %V 99 %P 1387-94 %8 2014 Aug %G eng %N 8 %1 http://www.ncbi.nlm.nih.gov/pubmed/24763399?dopt=Abstract %R 10.3324/haematol.2014.105924 %0 Journal Article %J Hum Mutat %D 2014 %T Spectrum of the mutations in Bernard-Soulier syndrome. %A Savoia, Anna %A Kunishima, Shinji %A De Rocco, Daniela %A Zieger, Barbara %A Rand, Margaret L %A Pujol-Moix, Núria %A Caliskan, Umran %A Tokgoz, Huseyin %A Pecci, Alessandro %A Noris, Patrizia %A Srivastava, Alok %A Ward, Christopher %A Morel-Kopp, Marie-Christine %A Alessi, Marie-Christine %A Bellucci, Sylvia %A Beurrier, Philippe %A de Maistre, Emmanuel %A Favier, Rémi %A Hézard, Nathalie %A Hurtaud-Roux, Marie-Françoise %A Latger-Cannard, Véronique %A Lavenu-Bombled, Cécile %A Proulle, Valérie %A Meunier, Sandrine %A Négrier, Claude %A Nurden, Alan %A Randrianaivo, Hanitra %A Fabris, Fabrizio %A Platokouki, Helen %A Rosenberg, Nurit %A HadjKacem, Basma %A Heller, Paula G %A Karimi, Mehran %A Balduini, Carlo L %A Pastore, Annalisa %A Lanza, Francois %K Alleles %K Bernard-Soulier Syndrome %K Databases, Nucleic Acid %K Founder Effect %K Genetic Variation %K Humans %K Mutation %K Platelet Glycoprotein GPIb-IX Complex %K Polymorphism, Single Nucleotide %K von Willebrand Diseases %K Web Browser %X

Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management.

%B Hum Mutat %V 35 %P 1033-45 %8 2014 Sep %G eng %N 9 %1 http://www.ncbi.nlm.nih.gov/pubmed/24934643?dopt=Abstract %R 10.1002/humu.22607