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Inherited or Immunological Thrombocytopenia: The Complex Nature of Platelet Disorders in 22q11.2 Deletion Syndrome.
Semin Thromb Hemost
January 2025
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
22q11.2 deletion syndrome (22q11.2DS) is one of the most common congenital malformation syndromes resulting from disrupted embryonic development of pharyngeal pouches.
View Article and Find Full Text PDFClinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
J Thromb Haemost
December 2024
Institute of Haematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Background: Myosin heavy chain 9-related diseases (MYH9-RDs) are rare autosomal dominant platelet disorders characterized by macrothrombocytopenia and leukocyte inclusion bodies. They can manifest with nonhematological complications, including deafness, nephropathy, or cataracts. Due to its rarity and its similar clinical presentation with immune thrombocytopenia (ITP), MYH9-RD is often misdiagnosed as ITP, leading to inappropriate treatment and delayed management of complications.
View Article and Find Full Text PDFBernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Semin Thromb Hemost
August 2024
Department of Pediatrics, Unit of Pediatric Hematology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Bernard-Soulier syndrome (BSS) is an inherited platelet function disorder caused by mutations in the genes that encode the glycoprotein (GP) Ibα and GPIbβ subunits, as well as the GPIX subunit in the GPIbIX complex, which is located on the platelet surface and has roles in platelet adhesion and activation. Patients with autosomal recessively inherited biallelic BSS have a homozygous or compound heterozygous expression in the GPIbα, GPIbβ, and GPIX subunits of the GPIbIX complex. Patients with autosomal dominantly inherited monoallelic BSS have a heterozygous expression in only the GPIbα and GPIbβ subunits of the GPIbIX complex.
View Article and Find Full Text PDFBernard-Soulier syndrome caused by two novel heterozygous gene mutations: a case report and literature review.
Hematology
December 2024
Department of Hematology and Oncology, Children's Hospital of Soochow University, Suzhou, People's Republic of China.
Article Synopsis
- - Bernard-Soulier syndrome (BSS) is a rare inherited condition characterized by prolonged bleeding, low platelet counts, and larger than normal platelets, typically inherited in an autosomal recessive manner.
- - A patient was mistakenly diagnosed with idiopathic thrombocytopenia purpura (ITP) for over six years before genetic analysis confirmed BSS, revealing significant mutations affecting platelet function and low expression of GP1b.
- - This case report introduces two new gene mutation sites linked to BSS, contributing valuable information to the existing mutation database and enhancing understanding of the genetic diversity of the disorder.
A Case of Myosin Heavy Chain 9-Related Disorder Following Splenectomy Due to Misdiagnosis of Idiopathic Thrombocytopenic Purpura.
Cureus
February 2024
Hematology, Ege University, Izmir, TUR.
This case study reports a patient with Myosin Heavy Chain 9 (MYH9)-related disorder (MYH9-RD) which is characterized by congenital macrothrombocytopenia, Döhle-like bodies, sensorineural hearing loss, cataracts, and glomerulopathy. Often misdiagnosed as idiopathic thrombocytopenic purpura (ITP), MYH9-RD requires accurate identification to avoid inappropriate treatments like steroids, rituximab, or splenectomy. Platelet transfusions were traditionally the only therapeutic option, but thrombopoietin receptor agonists (TPO-RA), specifically eltrombopag, have shown success in MYH9-RD treatment.
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