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Pediatric Research Apr 2023The infectious burden in hereditary spherocytosis (HS) children before splenectomy has rarely been reported and the risk of severe postsplenectomy infection is...
BACKGROUND
The infectious burden in hereditary spherocytosis (HS) children before splenectomy has rarely been reported and the risk of severe postsplenectomy infection is controversial.
METHODS
We conducted a retrospective study of pediatric patients with HS to evaluate the risk of infection presplenectomy and postsplenectomy. The primary outcome was any bacterial, Mycoplasma, or fungal infection that required hospitalization. The secondary outcomes were sepsis and septic shock. Appendectomized children were matched on age at surgery and enrolled as controls.
RESULTS
In all, 232 patients were included. Before splenectomy, the primary outcome was identified in 51 (22.0%) patients, and the secondary outcome was identified in 1 (0.4%) patient. After splenectomy, the primary and secondary outcomes were detected in 8 (4.1%) and 1 (0.5%) patients, respectively. The risk of infection was higher presplenectomy than postsplenectomy (OR, 6.6; 95% CI, 3.0-14.2). HS patients had a higher risk of infection than the controls before surgery (OR, 3.7; 95% CI, 2.3-5.9) but not after surgery (OR, 1.4; 95% CI, 0.6-3.6).
CONCLUSIONS
HS patients who require splenectomy later in life had a high incidence of hospitalization for infections. In contrast, postsplenectomy risk of hospitalization involving infection or severe infection was low.
IMPACT
Patients with hereditary spherocytosis who require splenectomy later in life have a high risk of hospital admission for infections, especially those with severe hereditary spherocytosis. With vaccines or postoperative antibiotics, splenectomy does not increase the risk of infection or severe infections. Splenectomy may reduce the risk of hospitalization for infections by alleviating the complications of hereditary spherocytosis. With vaccines, prophylaxis, or advanced antibiotics, the benefits of splenectomy in children with hereditary spherocytosis and a heavy disease burden may outweigh the risks.
Topics: Child; Humans; Hospitalization; Retrospective Studies; Spherocytosis, Hereditary; Splenectomy
PubMed: 35915237
DOI: 10.1038/s41390-022-02229-y -
Hematology. American Society of... Nov 2018Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural... (Review)
Review
Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Alterations in cell volume as a result of disordered membrane cation permeability account for reduced life span red cells in HX and OHS. Importantly, splenectomy is not beneficial in these 2 membrane transport disorders and is not recommended because it is ineffective and may lead to an increased risk of life-threatening thrombosis. Rational approaches are now available for the diagnosis and management of these inherited red cell disorders, and these will be discussed in this review.
Topics: Anemia, Hemolytic, Congenital; Elliptocytosis, Hereditary; Erythrocyte Membrane; Humans; Hydrops Fetalis; Risk Factors; Spherocytosis, Hereditary; Thrombosis
PubMed: 30504335
DOI: 10.1182/asheducation-2018.1.377 -
Clinical Genetics Dec 2022Hereditary spherocytosis (HS) is a prevalent inherited hemolytic disorder primarily reported in Caucasians. Recently, next-generation sequencing (NGS) techniques have... (Review)
Review
Hereditary spherocytosis (HS) is a prevalent inherited hemolytic disorder primarily reported in Caucasians. Recently, next-generation sequencing (NGS) techniques have shown tremendous potential in the diagnosis of HS. HS commonly originates from variants in ANK1, SPTB, SLC4A1, SPTA1, and EPB42. This review is focused on 13 previous clinical studies on genotype-phenotype correlation, which might promote the role of causative variants in the diagnosis and prognosis of HS. Most studies have focused on the pediatric population and Asian countries. The occurrence of novel variants was common in each cohort, and variants with a high frequency of causative genes were demonstrated. In conclusion, patients with variants in SPTA1 and SLC4A1 were reported to have more severe and milder anemia, respectively. ANK1 and SPTB are the most common variants in patients with HS, and no significant difference in phenotypes was observed between patients with variants in ANK1 versus SPTB. The types and locations of variants might influence the phenotype of each genotype, whereas the roles of concomitant pathogenic genes and the source of variants deserve further investigation.
Topics: Child; Humans; Ankyrins; Mutation; Spherocytosis, Hereditary; Genetic Association Studies; High-Throughput Nucleotide Sequencing; Cytoskeletal Proteins
PubMed: 36071563
DOI: 10.1111/cge.14223 -
Annali Italiani Di Chirurgia 2018Hereditary spherocytosis is a benign hematologic disease, which needs surgical treatment when medical therapy fails. Currently, the surgical strategies consist mainly in... (Review)
Review
BACKGROUND
Hereditary spherocytosis is a benign hematologic disease, which needs surgical treatment when medical therapy fails. Currently, the surgical strategies consist mainly in total or partial splenectomy, which can be performed either in open or in laparoscopic fashion. In this study, we analyzed our series of splenectomies for hereditary spherocytosis and we discuss about the surgical management, reviewing the Literature.
MATERIAL AND METHODS
Twenty-seven patients (mean age 16.5 years, range 8 - 30 years) affected by hereditary spherocytosis were retrospectively evaluated. Indication to surgery was based on hemolysis severity. Thirteen patients were submitted to laparoscopic splenectomy and 14 to open splenectomy, after preventive specific vaccinations. Cholecystectomy for associated cholelithiasis was performed during the same operation in 4 laparoscopic patients and in 6 open patients.
RESULTS
Main reasons for performing splenectomy were anemia unresponsive to iron supplementation in 7 patients (42%), splenomegaly in 6 patients (37%), and jaundice in 4 cases (21%). All the patients had a severe disease with hemoglobin level below 80 g/L, median reticulocytes count 6,5%, median value of indirect bilirubin concentration 2,0 mg/dL. Indications to splenectomy were increased need for red cell transfusions in 11 patients (66%) and symptoms related to cholelithiasis in 6 patients (34%). A post-operative early complication was observed after open splenectomy, consisting in a pancreatic fistula, which was treated conservatively. No post-operative complications were observed after laparoscopic splenectomy. Neither intra-operative complications nor conversions to open surgery were recorded during the laparoscopic approach. In a long-term follow- up, no infective complications were recorded.
CONCLUSIONS
According to our results, total splenectomy is associated with good results and few complications. In our opinion, it remains the best therapeutic option in selected adult patients non-responder to the medical treatment.
KEY WORDS
Hereditary spherocytosis, Laparoscopic splenectomy, Partial splenectomy.
Topics: Adolescent; Adult; Humans; Spherocytosis, Hereditary; Splenectomy; Young Adult
PubMed: 30665218
DOI: No ID Found -
Acta Haematologica 2019
Topics: Ankyrins; Humans; Mutation; Spherocytosis, Hereditary
PubMed: 30602149
DOI: 10.1159/000495339 -
Blood Cells, Molecules & Diseases Jul 2016The red blood cell (RBC) is historically the original parent cell of microparticles (MPs). In this overview, we describe the discovery and the early history of red... (Review)
Review
The red blood cell (RBC) is historically the original parent cell of microparticles (MPs). In this overview, we describe the discovery and the early history of red cell-derived microparticles (RMPs) and present an overview of the evolution of RMP. We report the formation, characteristics, effects of RMP and factors which may affect RMP evaluation. The review examines RMP derived from both normal and pathologic RBC. The pathologic RBC studies include sickle cell anemia (SCA), sickle cell trait (STr), thalassemia intermedia (TI), hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary stomatocytosis (HSt) and glucose-6-phosphate dehydrogenase deficiency (G6PD).
Topics: Cell-Derived Microparticles; Erythrocytes; Hematologic Diseases; Humans
PubMed: 27282583
DOI: 10.1016/j.bcmd.2016.04.003 -
Journal of the American Veterinary... May 2024To describe the presentation, diagnosis, and treatment of 4 cases of splenic torsion with associated spherocytosis.
OBJECTIVE
To describe the presentation, diagnosis, and treatment of 4 cases of splenic torsion with associated spherocytosis.
ANIMALS
4 client-owned dogs with spherocytosis and splenic torsion.
CLINICAL PRESENTATION
Each dog presented with nonspecific clinical signs, and 3 out of 4 dogs were anemic on presentation.
RESULTS
The diagnosis of splenic torsion was made with abdominal ultrasound or CT and confirmed during exploratory laparotomy. Spherocytosis was described as occasional (patient 1), rare (patient 2), and low number (patients 3 and 4). Two dogs survived to hospital discharge, and 2 dogs died following cardiorespiratory arrest.
CLINICAL RELEVANCE
Spherocytosis has not previously been reported in cases of splenic torsion, and identification of spherocytes on blood film evaluation warrants further investigation. The cause of spherocytosis in splenic torsion remains unknown but may be associated with microangiopathic fragmentation injury.
PubMed: 38776970
DOI: 10.2460/javma.24.03.0148 -
Clinical Chemistry and Laboratory... Jun 2017Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most common causes of inherited hemolytic anemia. HS results from the deficiency or... (Review)
Review
Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most common causes of inherited hemolytic anemia. HS results from the deficiency or dysfunction of red blood cell membrane proteins, such as α spectrin, β spectrin, ankyrin, anion channel protein (Band-3 protein), protein 4.1 and protein 4.2. Conventionally, HS diagnosis is established through a series of tests, which include spherocytes identification in peripheral smear, reticulocyte count, osmotic fragility, etc. Currently, different hematological analyzers provide erythrocyte indicators that estimate the presence of spherocytes and correlate that with HS, which can be useful for disease screening. The most traditional method is the osmotic fragility (OF) test, which is labor-intensive and time-consuming to perform and presents low sensitivity and specificity values. Thus, new methods have been developed for HS diagnosis, such as flow cytometry. Current guidelines recommend the use of flow cytometry as a screening test for HS diagnosis using the eosin-5'-maleimide (EMA) binding test. Thus, HS diagnosis is the result of a collaboration between clinicians and laboratories, who should take into account the family history and the exclusion of other causes of secondary spherocytosis.
Topics: Clinical Laboratory Techniques; Erythrocytes; Flow Cytometry; Humans; Osmotic Fragility; Spherocytosis, Hereditary
PubMed: 27837594
DOI: 10.1515/cclm-2016-0738 -
HemaSphere Jun 2019
PubMed: 35309772
DOI: 10.1097/HS9.0000000000000198 -
Zhongguo Shi Yan Xue Ye Xue Za Zhi Apr 2020In recent years, the diagnostic methods of hereditary spherocytosis (HS) have been developed rapidly, including eosin-5'-maleimide (EMA) binding test, flow cytometric... (Review)
Review
In recent years, the diagnostic methods of hereditary spherocytosis (HS) have been developed rapidly, including eosin-5'-maleimide (EMA) binding test, flow cytometric osmotic fragility test, osmotic gradient ektacytometry and next-generation sequencing. EMA binding test and flow cytometric osmotic fragility test are recommended as HS screening tests due to their high sensitivity and easy operation. Osmotic gradient ektacytometry has high sensitivity and specificity, thus which can be used to distinguish HS from other hereditary membrane disease, but can not differentiate between HS and auto-immune hemolytic anemia (AIHA) and it is difficult operation, which is used as an intermediate step between screening and diagnostic tests. Next-generation sequencing can detect the molecular defects, identifying the gene encoding defective protein, thus achieving accurate diagnosis. This diagnostic test of HS has become an important diagnostic tool. The development of laboratory diagnosis has reduced misdiagnosis, and significantly improved the level of HS diagnosis.
Topics: Clinical Laboratory Techniques; Flow Cytometry; Humans; Mass Screening; Osmotic Fragility; Spherocytosis, Hereditary
PubMed: 32319421
DOI: 10.19746/j.cnki.issn.1009-2137.2020.02.059