Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review

Manciu, Simona; Matei, Emil; Trandafir, Bogdan

doi:10.21614/chirurgia.112.2.110

Cited by 62 publications

(60 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Hereditary spherocytosis (HS) is a hereditable blood disease that belongs to the congenital anemia and affects erythrocyte membrane proteins leading to sphere‐shaped cells . The abnormalities in the shape are responsible for the fragility of the erythrocytes and cause rupture of the cells .…”

Section: Clinical Conditions Stimulating Eryptosis By Generation Of Omentioning

confidence: 99%

“…Band3, ankyrin, spectrin and protein 4.2 are the most frequently affected membrane proteins . The severity of HS may range from asymptomatic patients to patients who require regular blood transfusion from early childhood . In this disease, the erythrocytes themselves play an important role in the generation of not only ROS but also membrane lipid peroxide while showing impaired production of reduced GSH (Fig.…”

Section: Clinical Conditions Stimulating Eryptosis By Generation Of Omentioning

confidence: 99%

See 1 more Smart Citation

Oxidative stress, eryptosis and anemia: a pivotal mechanistic nexus in systemic diseases

et al. 2018

View full text Add to dashboard Cite

The average lifespan of circulating erythrocytes usually exceeds hundred days. Prior to that, however, erythrocytes may be exposed to oxidative stress in the circulation which could cause injury and trigger their suicidal death or eryptosis. Oxidative stress activates Ca -permeable nonselective cation channels in the cell membrane, thus, stimulating Ca entry and subsequent cell membrane scrambling resulting in phosphatidylserine exposure and activation of Ca -sensitive K channels leading to K exit, hyperpolarization, Cl exit, and ultimately cell shrinkage due to loss of KCl and osmotically driven water. While the mechanistic link between oxidative stress and anemia remains ill-defined, several diseases such as diabetes, hepatic failure, malignancy, chronic kidney disease and inflammation have been identified to display both increased oxidative stress as well as eryptosis. Recent compelling evidence suggests that oxidative stress is an important perpetrator in accelerating erythrocyte loss in different systemic conditions and an underlying mechanism for anemia associated with these pathological states. In the present review, we discuss the role of oxidative stress in reducing erythrocyte survival and provide novel insights into the possible use of antioxidants as putative antieryptotic and antianemic agents in a variety of systemic diseases.

show abstract

Section: Clinical Conditions Stimulating Eryptosis By Generation Of Omentioning

confidence: 99%

Section: Clinical Conditions Stimulating Eryptosis By Generation Of Omentioning

confidence: 99%

Oxidative stress, eryptosis and anemia: a pivotal mechanistic nexus in systemic diseases

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Splenectomy is the only curative treatment available for HS at present, and the appropriate age for splenectomy is 5 years or more [20]. Splenectomy can only eliminate haemolysis and associated signs and symptoms but cannot correct cytoskeletal membrane defects in HS [21]. In our study, the patient received RBC transfusion while in the hospital.…”

Section: Discussionmentioning

confidence: 87%

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Sun

Xie

et al. 2019

Hematology

View full text Add to dashboard Cite

2019) Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family, Hematology, 24:1, 583-587, ABSTRACTObjectives: Hereditary spherocytosis (HS) represents a group of congenital diseases characterized by sphere-shaped erythrocytes on peripheral blood smears. The typical clinical manifestations of HS include haemolysis, jaundice, splenomegaly, and gallstones. Ankyrin1, encoded by the ANK1 gene, is the predominant protein in red blood cells. Defects in ankyrin1 lead to a decrease in erythrocyte surface area, a spherical shape of erythrocytes and, in particular, loss of membrane elasticity and mechanical stability. The purpose of this study was to investigate a Chinese family with HS to determine the causative gene mutation and explore the genotype-phenotype correlation. Methods: A 4-year-old boy was diagnosed with HS based on typical clinical features. In addition, his father had a high possibility of HS. Targeted next-generation sequencing (NGS) followed by Sanger sequencing was performed in the proband and his parents. Results: One mutation in the ANK1 gene was recognized. c1801-1G > C in exon 17, which leads to splicing defects, was detected. To confirm the c1801-1G > C variant, samples from the proband and his parents were analysed by Sanger sequencing, and Sanger verification showed that this mutation was inherited from the father. Conclusion: The present study confirmed that a novel mutation in ANK1 may be causative of HS, which plays an important role in expanding the mutational spectrum of ANK1 mutations. This may contribute to accurate genetic counselling. And it is helpful for understanding the correlation of the genotype and phenotype.

show abstract

“…Hereditary spherocytosis (HS) has very diverse clinical manifestations, which typically include anemia, jaundice and splenomegaly. (12). However, a negative family history was one of the main reasons for misdiagnosis of the proband.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the causes of the misdiagnosis of hereditary spherocytosis

et al. 2018

View full text Add to dashboard Cite

Hereditary spherocytosis (HS) is an inherited hemolytic disease with clinical diversities. The aim of the present study was to examine the reasons for prolonged misdiagnosis and mistherapy of HS in a Chinese patient, and to summarize the laboratory screening and treatment methods for this disease in increasing the knowledge towards HS. Clinical data of the proband was reviewed. The proband was first screened by detection of eosin-5'-maleimide (EMA)-labeled red blood cells (RBCs) using flow cytometry. The type of protein defect in the extracted RBC membrane proteins was confirmed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Mutant fragments were verified using direct DNA sequencing and matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectroscopy. The proband showed a significant hemolytic tendency and significant reduction in the number of EMA-labeled RBCs. DNA sequencing indicated three site mutations in the SPTA1 gene, including His54Pro, Leu1858Val and 6531-12C>T. Additional DNA analysis of the three mutations in the parents of the proband showed that both the Leu1858Val and 6531‑12C>T mutations were carried by the father and the His54Pro mutation was carried by the mother. Moreover, the mutated peptides were identified by MALDI-TOF mass spectroscopy. HS has diverse clinical manifestations and is easily missed, misdiagnosed and mistreated. Therefore, a comprehensive analysis involving a routine blood test, blood smear, EMA labeling (flow cytometry) and SDS-PAGE can effectively distinguish HS from thalassemia, glucose-6-phosphate deficiency, iron-deficiency anemia and autoimmune hemolytic anemia.

show abstract

Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review

Cited by 62 publications

References 30 publications

Oxidative stress, eryptosis and anemia: a pivotal mechanistic nexus in systemic diseases

Oxidative stress, eryptosis and anemia: a pivotal mechanistic nexus in systemic diseases

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Analysis of the causes of the misdiagnosis of hereditary spherocytosis

Contact Info

Product

Resources

About