Results 11 to 20 of about 7,739 (202)

Complications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice—a case report [PDF]

Journal of Medical Case Reports
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 diagnosis ...
Sintayehu Mekonnen, Dereje Adefris, Belete Shikuro, Abdi Bati, Daniel Azmeraw, Temesegen Kassa, Eliud Teshome, Hawi Farris   +7 more
doaj   +2 more sources

Clinical Characteristics and Gene Mutations of Hereditary Spherocytosis in 59 Chinese Children. [PDF]

Mol Genet Genomic Med
Summary of the causative genes' spectrum of 59 Chinese HS Children patients. The schematic diagram of ankyrin, β‐spectrin, α‐spectrin, and band three protein domains with ANK1, SPTB, SPTA1, and SLC4A1 mutations. Distribution of mutations in the exons of ANK1 and SPTB genes.
Li Y, Wang Y, Liu T, Xiao L, Huang L, Zhang Y, Xiang Y, Yu J.   +7 more
europepmc   +2 more sources

A Case of Adrenal Myelolipoma Associated with Hereditary Spherocytosis

Clinical Pediatric Hematology-Oncology, 2021
Hereditary spherocytosis is the most common hereditary red blood cell membrane disorder. It results from a deficiency in certain proteins that are part of the red blood cell membrane cytoskeleton.
Dahui Gug, Ha Young Park, Bo Lyun Lee, Kwang Hoon Kim, Jeong Eun Lee, Ji Kyoung Park   +5 more
doaj   +1 more source

Hereditary Spherocytosis With Liver Transplantation After Cirrhosis: A Case Report

Frontiers in Medicine, 2022
The clinical manifestations of hereditary spherocytosis are similar to those of various hemolytic anemias, which causes hereditary spherocytosis to be difficult to diagnose clinically.
Xueliang Yang, Wen Wang, Wanhu Fan, Lin Cai, Feng Ye, Shumei Lin, Xiaojing Liu   +6 more
doaj   +1 more source

Hereditary spherocytosis

Transfusion Clinique et Biologique, 2010
Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an abnormal shape, higher metabolic requirements, and are prematurely trapped and destroyed in the spleen.
IOLASCON, ACHILLE, Avvisati RA, Piscopo C.   +2 more
openaire   +6 more sources

Anti-E Minor Blood Group Incompatibility and Hereditary Spherocytosis Associated Severe Hyperbilirubinemia: Neonatal Case Report

Forbes Tıp Dergisi, 2022
Neonatal jaundice is one of the most common clinical findings in the neonatal period. In neonatal pathological jaundice, the causes of hyperbilirubinemia caused by erythrocyte destruction should be considered and evaluated in terms of hemolytic jaundice.
Sema TANRIVERDİ, Sinem ATİK
doaj   +1 more source

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

Haematologica, 2012
Background The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5′-maleimide-
Paola Bianchi, Elisa Fermo, Cristina Vercellati, Anna P. Marcello, Laura Porretti, Agostino Cortelezzi, Wilma Barcellini, Alberto Zanella   +7 more
doaj   +1 more source

Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover. [PDF]

, 2012
Protein turnover through cullin-3 is tightly regulated by posttranslational modifications, the COP9 signalosome, and BTB/POZ-domain proteins that link cullin-3 to specific substrates for ubiquitylation.
Chen, Ju, Lange, Stephan, Perera, Sue, Teh, Phildrich   +3 more
core   +2 more sources

IDENTIFICATION AND VERIFICATION OF HEREDITARY SPHEROCYTOSIS BY MEANS OF LABORATORY DIAGNOSIS

Педиатрическая фармакология, 2014
Aim. Hereditary spherocytosis (HS) is the most commonly encountered erythrocyte membranopathy. Frequency of occurrence of the disease makes one case per 2000−5000 newborns.
Yu. A. Prokhorova, E. E. Zueva, N. E. Sokolova, G. N. Salogub, V. I. Golubeva   +4 more
doaj   +1 more source

Spleen histology in children with sickle cell disease and hereditary spherocytosis: Hints on the disease pathophysiology [PDF]

, 2016
open2Hereditary spherocytosis (HS) and sickle cell disease (SCD) are associated with splenomegaly and spleen dysfunction in pediatric patients. Scant data exist on possible correlations between spleen morphology and function in HS and SCD.
Alaggio Rita, Colombatti Raffaella, De Vito Rita, Fuligni Fabio, Gamba Piergiorgio, Ichino Martina, Pizzi Marco, Sabattini Elena, Sainati Laura, Santoro Luisa, Zucchetta Pietro   +10 more
core   +1 more source