Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb  (Bolzano mutation)

Noris, Patrizia; Perrotta, Silverio; Bottega, Roberta; Pecci, Alessandro; Melazzini, Federica; Civaschi, Elisa; Russo, Salvatore; Magrin, S.; Loffredo, Giuseppe; Salvo, Veronica Di; Russo, Giovanna; Casale, Maddalena; Rocco, Daniela De; Grignani, Claudio; Cattaneo, Marco; Baronci, Carlo; Dragani, Alfredo; Albano, V.; Jankovic, Momcilo; Scianguetta, Saverio; Savoia, Anna; Balduini, Carlo L.

doi:10.3324/haematol.2011.050682

Cited by 95 publications

(126 citation statements)

References 17 publications

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“…In alphabetical order Sophie Bayart, 1 Anne Bauters, 2 Schéhérazade Benabdallah-Guedira, 3 Françoise Boehlen, [4][5] Jeanne-Yvonne Borg, 6 Roberta Bottega, 7 James Bussel, 8 Daniela De Rocco, 9 Emmanuel de Maistre, 10 Michela Faleschini, 9 Emanuela Falcinelli, 11 Silvia Ferrari, 12 Alina Ferster, 13 Tiziana Fierro, 11 Dominique Fleury, 14 Pierre Fontana, [4][5] Chloé James, 15 Francois Lanza, 16 Véronique Le Cam Duchez, 6 Giuseppe Loffredo, 17 Pamela Magini, 18 Dominique Martin-Coignard, 19 Fanny Menard, 20 Sandra Mercier, 21 Annamaria Mezzasoma, 11 Pietro Minuz, 22 Ilaria Nichele, 23 …”

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Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Noris¹,

Schlegel²,

Klersy³

et al. 2014

Haematologica

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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 x 10 9 /L. ABSTRACT antepartum intracranial hemorrhage. On this basis, it has been concluded that bBSS is associated with a very high risk of serious bleeding in the mother and the neonate. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopeniaSome information on pregnancy outcome is available also for MYH9-related disease (MYH9-RD), one of the most frequent forms of IT. A recent review of the literature examined 25 case reports and one case series describing a total of 75 pregnancies in 40 women.5 Postpartum hemorrhage in the mother occurred in 4 cases, while no obvious bleeding complications were reported among the newborns. Based on these data, MYH9-RD does not seem to increase bleeding risk either in mothers or neonates.Limited data on pregnancy outcomes have been provided for patients with mild to moderate thrombocytopenia due to monoallelic BSS (mBSS), in all cases induced by the p.Ala156Val substitution in GPIb alpha (Bolzano mutation). 6 Overall, 20 women delivered 34 children with no excessive maternal or neonatal bleeding. Although the authors did not provide information on management of pregnancies and childbirths, this study suggests that women with mBSS have gestational outcomes similar to healthy subjects.A moderate risk of bleeding during delivery has been reported in a series of subjects with thrombocytopenia induced by ANKRD26 mutations (ANKRD26-related thrombocytopenia, ANKRD26-RT).7 Thirteen patients gave birth, either vaginally or by caesarean section, with bleeding complications in 3 women. No information was provided o...

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“…6 Overall, 20 women delivered 34 children with no excessive maternal or neonatal bleeding. Although the authors did not provide information on management of pregnancies and childbirths, this study suggests that women with mBSS have gestational outcomes similar to healthy subjects.…”

Section: Analysis Of 339 Pregnancies In 181 Women With 13 Different Fmentioning

confidence: 99%

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Noris¹,

Schlegel²,

Klersy³

et al. 2014

Haematologica

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“…In our cohort, the frequency of ETV6-RT was lower only to that of monoallelic Bernard-Soulier syndrome (12.2% in the whole series), MYH9-related disease (11.4%), ANKRD26-RT (9.4%), and biallelic Bernard-Soulier syndrome (5.7%). Since most of our patients with monoallelic BernardSoulier syndrome had the Ala156Val mutation of GPIba (Bolzano mutation), which is exclusive to the Italian population, 26 it is expected that the relative frequency of ETV6-RT is even higher in other countries.…”

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confidence: 99%

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

et al. 2016

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“…Mks differentiated from HSCs of biallelic BSS patients presented no ability to extend proplatelets in vitro, in the face of a preserved differentiation and maturation [61,62]. The monoallelic variant of BSS caused by heterozygous p.A156V mutation is characterized by an only partial defect of the GPIb-IX-V complex and a less severe degree of thrombocytopenia and platelet macrocytosis than biallelic BSS [63]. Consistent with this milder phenotype, Mks cultured from these patients showed reduced PPF, but the severity of the defect was lower than that observed with biallelic BSS subjects [64].…”

Section: Defective Ppf From Mature Mksmentioning

confidence: 99%

“…Platelet macrocytosis. Giant platelets in the biallelic form [58,63] Thrombocytopenia caused by ITGA2B/ ITGB3 mutations (nd, nd)…”

Section: Defective Mk Maturationmentioning

confidence: 99%

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists

Pecci

2013

Int J Hematol

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Knowledge in the field of inherited thrombocytopenias (ITs) has considerably improved over the recent years. In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1. The identification of novel molecular alterations causing thrombocytopenia together with improvement of methodologies to study megakaryopoiesis led to considerable advances in understanding pathophysiology of ITs, thus providing the background for proposing new treatments. Thrombopoietin-receptor agonists (TPO-RAs) represent an appealing therapeutic hypothesis for ITs and have been tested in a limited number of patients. In this review, we provide an updated description of pathogenetic mechanisms of thrombocytopenia in the different forms of ITs and recapitulate the current management of these disorders. Moreover, we report the available clinical and preclinical data about the role of TPO-RAs in ITs and discuss the rationale for the use of these molecules in view of pathogenesis of the different forms of thrombocytopenia of genetic origin.

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Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb (Bolzano mutation)

Cited by 95 publications

References 17 publications

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Clinical and pathogenic features of ETV6 -related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists

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