Results 31 to 40 of about 5,131 (194)

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

Human Genome Variation, 2022
Blood disorder: Targeted sequencing helps diagnosis when symptoms vary Genetic testing can help accurately diagnose people suspected of having a rare blood disorder called hereditary spherocytosis, the clinical symptoms of which often vary.
Keiko Shimojima Yamamoto, Taiju Utshigisawa, Hiromi Ogura, Takako Aoki, Takahiro Kawakami, Shoichi Ohga, Akira Ohara, Etsuro Ito, Toshiyuki Yamamoto, Hitoshi Kanno   +9 more
doaj   +1 more source

Severe autoimmune hemolytic anemia complicating hereditary spherocytosis treated successfully with glucocorticoids and cyclosporine: a case report

Hematology, 2023
Background Severe autoimmune hemolytic anemia complicating hereditary spherocytosis is life threatening and has not been described in a case report. Here, we report a case in which this intractable disease was treated successfully with glucocorticoids ...
Na Wang, Hongkai Lu, Linzhang Li, Ming Gong, Yongtong Cao   +4 more
doaj   +1 more source

Hereditary Spherocytosis and Wandering Spleen

Pediatric Hematology and Oncology, 2013
Pelvic spleen is a very rare condition especially among children [1]. There were 130 pediatric cases reported in the literature [2].
Özgürler, Funda, Balcı, Yasemin Işık, Koçyiğit, Ali, Tan, M., Polat, Aziz   +4 more
openaire   +6 more sources

Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis

Frontiers in Pediatrics, 2019
A 3-year-old girl was admitted to our hospital for the correction of atrial septal defect (ASD). Open heart operation with cardiopulmonary bypass is dangerous because the patient also had hereditary spherocytosis, which put her at risk for hemolytic ...
Zhixian Ji, Na Liu, Zhanhui Du, Gang Luo, Zhen Bing, Quansheng Xing, Silin Pan   +6 more
doaj   +1 more source

Feasibility of Intensive Chemotherapy in Hereditary Spherocytosis. [PDF]

Hematol Rep
Background: This study presents a young man with hereditary spherocytosis (HS) who underwent intensive chemotherapy for newly diagnosed diffuse large B-cell lymphoma (DLBCL) and achieved complete remission.
Valentina C, Cristina G, Manuel C, Simona D, Luca N, Benedetta S, Alessandro Maria V, Benedetta P.   +7 more
europepmc   +2 more sources

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, EarlyView.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Histopathology of Hereditary Spherocytosis

, 2022
This presentation will reveal the the histological effects of Hereditary Spherocytosis through the use of histologic photomicrographs and research on the inherited blood ...
Suh, Eric
core  

Exome sequencing for diagnosis of congenital hemolytic anemia

Orphanet Journal of Rare Diseases, 2020
Background Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In
Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros   +20 more
doaj   +1 more source

Resolving a Complex Neonatal Phenotype by Rapid Trio Whole‐Genome Sequencing: A De Novo 11q14.3–q22.3 Deletion and a Splicing‐Altering Synonymous ANK1 Variant

Journal of Clinical Laboratory Analysis, EarlyView.
Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee, Ja‐Hyun Jang, Beom Hee Lee, Hee‐Jeong Youk, Eun Sun Kim, Kee Hyun Cho, Yun Sil Chang, Heui Seung Jo, Mi‐Ae Jang   +8 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source