Results 1 to 10 of about 3,635 (200)

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia [PDF]

British Journal of Haematology, 2005
SummaryPhytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant‐derived cholesterol‐like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understood haematological condition ...
David C Rees, Massimo Carella, Jerry Wales   +2 more
exaly   +11 more sources

A nonactivating ITGB3 mutation in the β3 cytoplasmic region causes macrothrombocytopenia with an impaired αIIbβ3/RhoA pathway [PDF]

Blood Vessels, Thrombosis & Hemostasis
: Almost all mutations of ITGA2B or ITGB3 identified in congenital macrothrombocytopenia induce constitutive activation of αIIbβ3. However, whether concomitant αIIbβ3 activation is essential for macrothrombocytopenia development remains unknown. Recently,
Keiichi Nakata, Keigo Akuta, Takaya Endo, Midori Koike, Daisuke Motooka, Daisuke Okuzaki, Hisashi Kato, Yoshiaki Tomiyama, Naoki Hosen, Hirokazu Kashiwagi   +9 more
doaj   +3 more sources

Congenital macrothrombocytopenia is a heterogeneous disorder in India [PDF]

Haemophilia, 2016
IntroductionInherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterized by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleeding tendency.
Kanjaksha Ghosh, Daniel J Hampshire, M Makris   +2 more
exaly   +6 more sources

Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing

Platelets, 2021
Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We herein report a large Chinese family presented with phenotypic variability involving thrombocytopenia and/or giant platelets. Whole genome sequencing (WGS) of the
, Linlin Shao, Hai Zhou
exaly   +3 more sources

A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia

Clinical Case Reports (discontinued)
Key Clinical Message. A 15‐year‐old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both MYH7 and MYH9 genes.
Yasuhiro Ikawa, Taichi Nakamura, Toru Uchiyama   +2 more
exaly   +3 more sources

From Bernard-Soulier syndrome to sitosterolemia: the role of genetic analysis in bleeding diathesis [PDF]

Thrombosis Journal
Bleeding diathesis’ diagnosis can be challenging due to the high number of disorders with hemorrhagic symptomatology. Sitosterolemia is a rare disease characterized by increased sterols plasma levels and cardiovascular, cutaneous, articular, and ...
Cristina Marrero-Cepeda, Gloria García-Donas, Francisco Javier Rodríguez-Martorell, Ramiro Núñez-Vázquez, Concepción Prats-Martín, José Antonio Pérez-Simón, María Teresa Vargas   +6 more
doaj   +2 more sources

Prevalence of asymptomatic macrothrombocytopenia in voluntary blood donors: A multicentric study [PDF]

Asian Journal of Transfusion Science
INTRODUCTION: Macrothrombocytopenia is a combination of thrombocytopenia and giant platelets (PLTs). It can be found asymptomatically with several genetic polymorphisms/mutations.
Archana Buch, Yaminy Ingale, Tulika Chandra, Sudha Ranganathan, Sudipta Sekhar Das, Mallika Agarwal, Charusheela Gore, Madhura Gandhi   +7 more
doaj   +2 more sources

Management of pregnancy for a patient with the new syndromic macrothrombocytopenia, DIAPH1-related disease

Platelets, 2018
The number of genes involved in the identification of macrothrombocytopenia (MTP) is growing but the clinical consequences for the affected patients are not well determined. Here, we report the management of the bleeding risk for a patient with the newly
Alan T Nurden, Rémi Favier
exaly   +2 more sources

Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia [PDF]

Molecular Therapy: Nucleic Acids
SLFN14-related inherited thrombocytopenia (SLFN14-related IT) is a hereditary disorder involving ribosomopathy and platelet dysfunction. Affected patients exhibit significant bleeding tendencies.
Haixiao Xie, Shiyi Tang, Jianmin Shao, Ming Yang, Huida Tong, Linhua Zhang, Mingzhu Zhong, Xiaomin Yu, Laixi Bi, Yuming Wang, Rongying Ou, Chen Ling, Liqing Zhu   +12 more
doaj   +2 more sources

Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia

Haematologica, 2008
We read with interest Nurden and Nurden’s exhaustive review on inherited thrombocytopenias.[1][1] We can add that the nature of Mediterranean macrothrombocytopenia has recently been clarified.
G.W. Stewart, M. Makris
doaj   +2 more sources