Results 41 to 50 of about 3,635 (200)

Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome

Case Reports in Obstetrics and Gynecology, 2016
Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman, Kathy Deng, Deepak Nanda   +2 more
doaj   +1 more source

Novel <i>ABCG5</i> and <i>ABCG8</i> Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges. [PDF]

Hum Mutat
Sitosterolemia is a rare autosomal recessive lipid metabolic disorder caused by mutations in ABCG5 or ABCG8, leading to pathological accumulation of dietary plant sterols. The condition is clinically heterogeneous, presenting with xanthomas, premature atherosclerosis and haematological abnormalities such as stomatocytosis, haemolytic anaemia and ...
Warang P, Dongerdiye R, Dehadrai P, Kamble P, Samanpalliwar N, Madkaikar M, Shanmukhaiah C, Kedar PS.   +7 more
europepmc   +2 more sources

Sebastian Platelet Syndrome: A Hereditary Macrothrombocytopenia [PDF]

Mayo Clinic Proceedings, 2003
Sebastian platelet syndrome is a rare autosomal dominant disorder characterized by macrothrombocytopenia with granulocyte inclusions similar to those in patients with Fechtner platelet syndrome but without evidence of hereditary nephritis and sensorineural hearing loss that characterizes the latter.
Vilmarie, Rodriguez, William L, Nichols, Jon E, Charlesworth, James G, White   +3 more
openaire   +2 more sources

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

Haematologica, 2016
Several patients have been reported to have variant dominant forms of Glanzmann thrombasthenia, associated with macrothrombocytopenia and caused by gain-of-function mutations of ITGB3 or ITGA2B leading to reduced surface expression and constitutive ...
Loredana Bury, Emanuela Falcinelli, Davide Chiasserini, Timothy A. Springer, Joseph E. Italiano, Paolo Gresele   +5 more
doaj   +1 more source

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

Orphanet Journal of Rare Diseases, 2023
Background Platelet-type bleeding disorder 20 (BDPLT20), as known as SLFN14-related thrombocytopenia, is a rare inherited thrombocytopenia (IT). Previously, only 5 heterozygous missense mutations in the SLFN14 gene have been reported.
Dmitrii Polokhov, Daria Fedorova, Anastasiya Ignatova, Evgeniya Ponomarenko, Elena Rashevskaya, Alexey Martyanov, Nadezhda Podoplelova, Maxim Aleksenko, Irina Mersiyanova, Elena Seregina, Aleksandr Poletaev, Ekaterina Truchina, Elena Raykina, Svetlana Plyasunova, Galina Novichkova, Pavel Zharkov, Mikhail Panteleev   +16 more
doaj   +1 more source

Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE

Frontiers in Immunology, 2021
BackgroundHereditary thrombocytopenias constitute a genetically heterogeneous cause of increased bleeding. We report a case of a 17-year-old boy suffering from severe macrothrombocytopenia throughout his life.
Karolina I. Smolag, Marcus Fager Ferrari, Eva Zetterberg, Eva Leinoe, Torben Ek, Anna M. Blom, Maria Rossing, Myriam Martin   +7 more
doaj   +1 more source

Wiskott-Aldrich syndrome with macrothrombocytopenia

Indian Pediatrics, 2014
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype.3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome.Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome.Maternally inherited causative ...
Dejan, Skoric, Aleksandar, Dimitrijevic, Goran, Cuturilo, Petar, Ivanovski   +3 more
openaire   +2 more sources

Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels.

, 2008
BACKGROUND Cavalier King Charles Spaniels (CKCS) have a high prevalence of inherited macrothrombocytopenia. The purpose of this study was to determine if a mutation in beta1-tubulin correlated with presumptive inherited macrothrombocytopenia ...
Schuller, Simone, Toivio-Kinnucan, M, Boudreaux, M K, Davis, B   +3 more
core   +1 more source

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice [PDF]

, 2018
Unlike primary myelofibrosis (PMF) in adults, myelofibrosis in children is rare. Congenital (inherited) forms of myelofibrosis (cMF) have been described, but the underlying genetic mechanisms remain elusive.
Ernest Turro, Calicchio, M.L., Senis, Yotis A, Fleming, M.D., Crispin, Andrew, Heemskerk, Johan W. M., Jarvis, G.E., Campagna, Dean R, Hofmann, I., Kathleen Freson, Calicchio, Monica L., Obeng, Esther A., Eble, Johannes A., Corinne Pondarré, Campagna, Dean R., Vögtle, T., Turro, Ernest, Senis, Yotis A., Obeng, E.A., Geer, Mitchell J., Yotis A. Senis, Mazharian, Alexandra, Barr, A.J., Vögtle, Timo, Gavin E. Jarvis, van Geffen, J.P., Schmitz-Abe, K., Kuijpers, Marijke J E, Silke Heising, Crispin, A., Mitchell J. Geer, Esther A. Obeng, Mazharian, A., Dean R. Campagna, Douglas, Michael, Inga Hofmann, Kuijpers, Marijke J.E., Kuijpers, Marijke J. E., van Geffen, Johanna P., Campagna, D.R., Geer, Mitchell J, Markianos, K., Ouwehand, W.H., Obeng, Esther A, Kyriacos Markianos, Pondarré, C., Markianos, Kyriacos, Senis, Y., Alastair Barr, Willem H. Ouwehand, Ouwehand, Willem H, Marijke J. E. Kuijpers, Pondarré, Corinne, Klaus Schmitz-Abe, van Geffen, Johanna P, Heising, S., Johannes A. Eble, Michael Douglas, Eble, Johannes A, Eble, J.A., Jarvis, Gavin E, Hofmann, Inga, Heemskerk, J.W.M., Mark D. Fleming, Jarvis, Gavin E., Favier, Rémi, Andrew Crispin, Fleming, Mark D., Kuijpers, M.J.E., Rémi Favier, Calicchio, Monica L, Alexandra Mazharian, Freson, K., Fleming, Mark D, Douglas, M., Heemskerk, Johan W.M., Geer, M.J., Barr, Alastair, Turro, E., Johan W. M. Heemskerk, Schmitz-Abe, Klaus, Heemskerk, Johan W M, Freson, Kathleen, Heising, Silke, Favier, R., Timo Vögtle, Ouwehand, Willem H., Johanna P. van Geffen, Monica L. Calicchio   +88 more
core   +1 more source

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation

Platelets, 2022
GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia.
Caitlin Dunstan-Harrison, Ian M. Morison, Elizabeth C. Ledgerwood   +2 more
doaj   +1 more source