Zobrazeno 1 - 10
of 4 111
pro vyhledávání: '"Hereditary Spherocytosis"'
Autor:
Appukuttan, L. Lalitha Kumari1 hima28918@gmail.com
Publikováno v:
Alternative Therapies in Health & Medicine. Nov2024, Vol. 30 Issue 11, p50-53. 4p.
Autor:
Sintayehu Mekonnen, Dereje Adefris, Belete Shikuro, Abdi Bati, Daniel Azmeraw, Temesegen Kassa, Eliud Teshome, Hawi Farris
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the
Externí odkaz:
https://doaj.org/article/11a2ce23ee0d4eeabf44f5c55fc3591a
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Hereditary spherocytosis (HS) is the most prevalent form of congenital hemolytic anemia, being caused by genetic mutations in genes encoding red blood cell cytoskeletal proteins. Mutations in the ANK1 and SPTB genes are the most common cause
Externí odkaz:
https://doaj.org/article/152a4b0336124be784c5c5846c90fad4
Publikováno v:
Journal of Inflammation Research, Vol Volume 17, Pp 5977-5983 (2024)
Yang Gou,1,2 Ping Wang,1,2 Wucheng Yang,1,2 Yimei Feng,1,2 Xiangui Peng,1,2 Hong Liu,1,2 Shuiqing Liu,1,2 Xi Zhang1,2 1Medical Center of Hematology, Xinqiao Hospital of Army Medical University, Chongqing, 400037, People’s Republic of China; 2Chongq
Externí odkaz:
https://doaj.org/article/fe651e64de214f6ea4ac553a599ec7c1
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 9, Iss 3, Pp 155-160 (2024)
Background: Heterozygous pathogenic variants of SPTB cause hereditary spherocytosis (HS) in a quarter of cases. Case report: A 14-day-old male presenting with persistent anemia and hyperbilirubinemia was diagnosed with HS by increased red blood cell
Externí odkaz:
https://doaj.org/article/d1b15cdef9424a61b2332bd3e7eb4722
Autor:
Yang Wang, Tao Liu, Chenxi Jia, Li Xiao, Wen Wang, Yongjie Zhang, Yan Xiang, Lan Huang, Jie Yu
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Hereditary spherocytosis (HS, MIM#612641) is one of the most common hereditary hemolytic disorders. This study aimed to confirm a novel variant’s pathogenicity and reveal a patient’s genetic etiology. Methods The clinical data
Externí odkaz:
https://doaj.org/article/dbd92c37573c4282b1644b061a78a105
Autor:
Chongjun Wu, Yixin Yan, Ting Xiong, Wen Jiang, Jing Xu, Yanfei Rao, Jianyun Ao, Chun Xu, Xuehong Li, Longwang Qi, Wenhong Zheng, Wenjin Li, Zhongjin Xu, Yu Yang, Zhenjiang Li
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Objective This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype–phenotype correlations in Chinese patients with hereditary spherocytosis (HS). Methods Retrospective analysis of clinical dat
Externí odkaz:
https://doaj.org/article/268464dae8084d1e84ef13ac9b5dd48f
Autor:
Xu, Tieying1, Lizarralde-Iragorri, Maria A.2,3,4, Roman, Jean1, Ghasemi, Rasta5, Lefèvre, Jean-Pierre6,7, Martincic, Emile8, Brousse, Valentine2,3,4,9, Français, Olivier1,10, El Nemer, Wassim2,3,4, Le Pioufle, Bruno1,11 bruno.le-pioufle@ens-paris-saclay.fr
Publikováno v:
Scientific Reports. 6/17/2020, Vol. 10 Issue 1, p1-10. 10p.
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundGallstones are among the most common complications of hereditary spherocytosis (HS). In previous treatments, gallbladder-preserving cholelithotomy (GPC) has remained a subject of significant debate due primarily to potential risks of stone
Externí odkaz:
https://doaj.org/article/ea9adfb3695f4a78966c854b05373d80
Publikováno v:
Open Life Sciences, Vol 19, Iss 1, Pp 166-9 (2024)
A congenital protein anomaly in the erythrocyte membrane skeleton causes a hereditary haemolytic illness known as hereditary spherocytosis (HS). The primary characteristic of HS is an increase in the number of tiny spherical red blood cells in the pe
Externí odkaz:
https://doaj.org/article/a6883f3e88174ff48852a647ffad5369