The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly.
Yuki Tateno, Ryoji Suzuki, Yukihiro Kitamura 2016, 'Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis:a case report', Journal of Medical Case Reportshttp://link.springer.com/article/10.1186/s13256-016-1144-8. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Hereditary spherocytosis often causes a complex of clinical signs, including hemolytic crises in patients.
Yu. A. Prokhorova, E. E. Zueva, N. E. Sokolova, G. N. Salogub, V. I. Golubeva 2014, 'IDENTIFICATION AND VERIFICATION OF HEREDITARY SPHEROCYTOSIS BY MEANS OF LABORATORYDIAGNOSIS', Pediatričeskaâ Farmakologiâhttps://pf.spr-journal.ru/jour/article/view/75. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
These include hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis,and the hereditary stomatocytosis syndromes.
Sophia Delicou, Aikaterini Xydaki, Chryssanthi Kontaxi, Konstantinos Maragkos 2015, 'Disorders of the erythrocyte membrane', Italian Journal of Medicinehttp://www.italjmed.org/index.php/ijm/article/view/470. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
It has been applied for the management of splenic trauma, hypersplenism with portal hypertension, hereditary spherocytosis, thalassemia and splenic hemangioma.
matteo molica, Fulvio Massaro, Giorgia Annechini, Erminia Baldacci, Gianna maria D'elia,Riccardo Rosati, Silvia maria trisolini, Paola Volpicelli, Robin Foà, Saveria Capria 2016, 'Life-threatening autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura:successful seletive splenic artery embolization', Mediterranean Journal of Hematology and Infectious Diseaseshttp://www.mjhid.org/index.php/mjhid/article/view/2544. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Thus, hereditary spherocytosis was finally diagnosed.
Ti-Long Huang, Bao-Hua Sang, Qing-Ling Lei, Chun-Yan Song, Yun-Bi Lin, Yu Lv, Chun-HuiYang, Na Li, Yue-Huang Yang, Xian-Wen Zhang, Xin Tian 2019, 'A de novo ANK1 mutation associated to hereditary spherocytosis: a case report', BMC Pediatricshttp://link.springer.com/article/10.1186/s12887-019-1436-4. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
Hereditary spherocytosis was diagnosed based on clinical history, physical examination and on a positive osmotic fragility curve.
Maria Christina Lopes Araujo Oliveira, Rachel Aparecida Ferreira Fernandes, CarolinaLins Rodrigues, Daniela Aguiar Ribeiro, Maria Fernanda Giovanardi, Marcos Borato Viana 2012, 'Clinical course of 63 children with hereditary spherocytosis: a retrospective study',Revista Brasileira de Hematologia e Hemoterapiahttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842012000100006. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
The authors report a case of a 57-year-old man with intrathoracic extramedullary hematopoiesis and hereditaryspherocytosis.
Juliana França Carvalho, Edson Marchiori, Gláucia Zanetti, Claudia Mauro Mano, BrancaSarcinelli-Luz, Flávia Gavinho Vianna, Carla Assed, Isabella Guedes Santos, AlairAugusto S. M. D. Santos, Alberto Domingues Vianna 2010, 'Paravertebral Mass in a Patient with Hemolytic Anemia: Computed Tomographic Findings',Case Reports in Medicinehttp://dx.doi.org/10.1155/2010/724279. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)
We report here a new mutation in the ß-spectrin gene coding region in a patient with hereditary spherocytosis.
D.S. Bassères, A.C. Tavares, F.F. Costa, S.T.O. Saad 2002, 'ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associatedwith hereditary spherocytosis and instability of the mutant mRNA', Brazilian Journal of Medical and Biological Researchhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800009. Retrieved from DOAJ CC BY 4.0 (https://creativecommons.org/licenses/by-sa/4.0/legalcode)