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Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods

Revista Cubana de Medicina Militar
Introduction: Hereditary spherocytosis is a prevalent congenital hemolytic erythrocyte membranopathy. Laboratory diagnosis is traditionally based on erythrocyte morphology, yet 20% of cases may lack visible spherocytes, leading to misdiagnosis.
Hien Thanh Dao, Triet Hy Van, Tuyet Thi Bach Tran, Dat Quoc Ngo, Anh Thi Mai Nguyen   +4 more
doaj   +2 more sources

In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis. [PDF]

Br J Haematol
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
de Wilde JRA, Kuppens GZL, Boesveld ME, van Vuren AJ, van Solinge WW, Waanders E, van Beers EJ, Rab MAE, Bartels M, van Wijk R.   +9 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

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

Intraoperative Cell-Saver Caused More Autologous Salvage Hemolysis in a Hereditary Spherocytosis Patient Than in a Normal Erythrocyte Patient

Frontiers in Physiology, 2022
Hereditary spherocytosis is a common red blood cell disease caused by an inherited red blood cell membrane defect, leading to a spherical shape and propensity for hemolysis.
Di Jin, Le Shen, Le Shen, Yuguang Huang, Yuguang Huang   +4 more
doaj   +1 more source

Hereditary Spherocytosis in a 17 year girl: A case report [PDF]

, 2017
— Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminate haemolytic anaemia.
Dr. Sunil Mahavar, Dr. Ramesh Chandra, Dr. Mayank Gupta, Dr. Gaurav Chauhan, Dr. Swati Srivastava, Dr. Raman Sharma   +5 more
core   +1 more source

Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?

Frontiers in Physiology, 2017
For many hereditary disorders, although the underlying genetic mutation may be known, the molecular mechanism leading to hemolytic anemia is still unclear and needs further investigation.
Laura Hertz, Rick Huisjes, Esther Llaudet-Planas, Polina Petkova-Kirova, Asya Makhro, Jens G. Danielczok, Stephane Egee, Stephane Egee, Stephane Egee, Maria del Mar Mañú-Pereira, Richard van Wijk, Joan-Lluis Vives Corrons, Anna Bogdanova, Lars Kaestner, Lars Kaestner   +14 more
doaj   +1 more source

Cholelitiasis in an adult patient with mild hereditary spherocytosis – a case report [PDF]

Archives of the Balkan Medical Union, 2018
Hereditary spherocytosis (HS) is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. The condition is dominantly inherited in 75% of people.
Bogdan SOCEA, Anca A. NICA, Alexandru C. SMARANDA, Ovidiu G. BRATU, Camelia C. DIACONU, Vlad D. B Ă LEANU, Drago ș V. DAVI Ț OIU, Mihai DIMITRIU, Alexandru C. CARÂP, Simona BOBIC, Vlad D. CONSTANTIN   +10 more
doaj   +1 more source

Reactive Thrombocytosis after Splenectomy in Hereditary Spherocytosis: Case Report and Literature Review

European Journal of Case Reports in Internal Medicine, 2021
Reactive thrombocytosis after splenectomy is a feared cause of thrombosis throughout the arterial and venous system. There are many causes of splenomegaly, ranging from cirrhosis to lymphoma to hereditary spherocytosis.
Chidinma Ejikeme, Sherif Elkattawy, Fisayo Kayode-Ajala, Sarah Ayad, Abraheim Al-nasseri, William Kessler   +5 more
doaj   +1 more source