2,775 results match your criteria Spherocytosis Hereditary


Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics.

Analyst 2020 Jun 1. Epub 2020 Jun 1.

Department of Chemistry - "Sapienza" University of Rome, p.le A. Moro 5, 00185 Rome, Italy.

Systematic screening for congenital erythrocyte disorders is not a common practice, due to a lack in the accuracy of the methods and to the costs of the analyses. As a consequence, the diagnosis is usually made when a severe complication occurs. This study introduces an innovative method to perform the screening of a hereditary disease characterized by erythrocyte membrane defects such as hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). Read More

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http://dx.doi.org/10.1039/d0an00649aDOI Listing

Transient aplastic crisis triggered by parvovirus B19 in a family with hereditary spherocytosis.

IDCases 2020 11;21:e00802. Epub 2020 May 11.

Pathogenesis and Control of Chronic Infections, University of Montpellier, INSERM, EFS, Montpellier University Medical Centre, 34090, Montpellier, France.

Acute parvovirus B19 infection may lead to erythroblastopenia crisis in patients with underlying red blood cells disorders. We report herein an uncommon concomitant transient aplastic crisis in a mother and her daughter, both affected by hereditary spherocytosis. The diagnosis was confirmed by the detection of a very high parvovirus B19 DNA load in both the mother's and daughter's sera, associated with the presence of parvovirus B19 specific immunoglobulin-M antibodies. Read More

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http://dx.doi.org/10.1016/j.idcr.2020.e00802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7242858PMC

Genotype-phenotype correlation in children with hereditary spherocytosis.

Br J Haematol 2020 May 20. Epub 2020 May 20.

Department of Paediatrics, Division of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.

Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. We performed a retrospective study of 166 children with HS and describe the clinical phenotype according to the genotype. In 160/166 (97%) children with HS a disease-causing mutation was identified. Read More

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http://dx.doi.org/10.1111/bjh.16750DOI Listing

[A case of neonatal hereditary spherocytosis characterized by hydrops fetalis].

Zhonghua Er Ke Za Zhi 2020 May;58(5):418-420

Department of Pediatrics, Peking University People's Hospital, Beijing 100044, China.

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http://dx.doi.org/10.3760/cma.j.cn112140-20200113-00030DOI Listing

How I approach hereditary hemolytic anemia and splenectomy.

Pediatr Blood Cancer 2020 May 11:e28337. Epub 2020 May 11.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Hereditary hemolytic anemias (HHA) are a heterogeneous group of anemias associated with decreased red cell survival. While there can be clinical benefit of splenectomy in many cases, splenectomy is not appropriate for all types of HHA. Additionally, there are significant risks during and following splenectomy including surgical risks, postsplenectomy sepsis, and thrombotic complications. Read More

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http://dx.doi.org/10.1002/pbc.28337DOI Listing

Tangential flow filtration of haptoglobin.

Biotechnol Prog 2020 Apr 29:e3010. Epub 2020 Apr 29.

William G. Lowrie Department of Chemical and Biomolecular Engineering, The Ohio State University, Columbus, Ohio, USA.

Haptoglobin (Hp) is a plasma glycoprotein that scavenges cell-free hemoglobin (Hb). Hp has various potential therapeutic applications, but it has been mainly studied for treatment of acute hemolytic conditions that can arise from situations such as massive blood transfusion, infusion of stored red blood cells, severe burns, trauma, sepsis, radiation injury, and others. Therefore, Hp may also be beneficial during chronic hemolytic disease states such as hereditary spherocytosis, nocturnal hemoglobinuria, sickle-cell anemia, and malaria. Read More

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http://dx.doi.org/10.1002/btpr.3010DOI Listing

Splenectomy in childhood for non-malignant haematologic disorders - long-term follow-up shows minimal adverse effects.

Br J Haematol 2020 Apr 28. Epub 2020 Apr 28.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Splenectomy is considered therapeutic in various non-malignant haematologic diseases. Adverse events - specifically infections and thromboembolism - are not extensively documented in the paediatric population, maintaining the concern over risks-versus-benefits of the procedure. We studied a cohort of paediatric haematology patients undergoing splenectomy between 1977 and 2015 to determine short- and long-term complications. Read More

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http://dx.doi.org/10.1111/bjh.16657DOI Listing

Single-cell O exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells.

Proc Natl Acad Sci U S A 2020 May 22;117(18):10067-10078. Epub 2020 Apr 22.

Department of Physiology, Anatomy & Genetics, University of Oxford, OX1 3PT Oxford, England;

Disorders of oxygen transport are commonly attributed to inadequate carrying capacity (anemia) but may also relate to inefficient gas exchange by red blood cells (RBCs), a process that is poorly characterized yet assumed to be rapid. Without direct measurements of gas exchange at the single-cell level, the barriers to O transport and their relationship with hematological disorders remain ill defined. We developed a method to track the flow of O in individual RBCs by combining ultrarapid solution switching (to manipulate gas tension) with single-cell O saturation fluorescence microscopy. Read More

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http://dx.doi.org/10.1073/pnas.1916641117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7211990PMC

[Progress on Laboratory Diagnosis of Hereditary Spherocytosis--Review].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2020 Apr;28(2):704-707

Departments of Hematology, The Second Xiangya Hospital, Central South University, Changsha 410011, Hunan Province, China,E-mail:

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. Read More

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http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2020.02.059DOI Listing

Anesthetic Management of Laparoscopic Pyloromyotomy for Pyloric Stenosis in a Neonate with Hereditary Spherocytosis.

Cureus 2020 Mar 15;12(3):e7277. Epub 2020 Mar 15.

Anesthesiology, NewYork-Presbyterian Brooklyn Methodist Hospital, Brooklyn, USA.

We describe a case of hereditary spherocytosis in a neonate with pyloric stenosis requiring laparoscopic pyloromyotomy. Hereditary spherocytosis is the most commonly inherited hemolytic anemia causing hyperbilirubinemia and mild anemia. Anesthetic management for laparoscopic pyloromyotomy is challenging. Read More

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http://dx.doi.org/10.7759/cureus.7277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158607PMC

Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.

Ann Hematol 2020 May 23;99(5):955-962. Epub 2020 Mar 23.

Centro de Hematologia e Hemoterapia da Universidade Estadual de Campinas, (HEMOCENTRO/UNICAMP), Campinas, SP, Brazil. Rua Carlos Chagas, 480, Campinas, SP, 13083-878, Brazil.

Hereditary anemias are a group of heterogeneous disorders including hemolytic anemias and hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA). Causative mutations occur in a wide range of genes leading to deficiencies in red cell production, structure, or function. The genetic screening of the main genes is important for timely diagnosis, since routine laboratory tests fail in a percentage of the cases, appropriate treatment decisions, and genetic counseling purposes. Read More

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http://dx.doi.org/10.1007/s00277-020-03986-8DOI Listing

Rapid Identification of Biallelic Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.

Mol Syndromol 2020 Feb 1;11(1):50-55. Epub 2020 Feb 1.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

Heterozygous pathogenic variants in cause autosomal dominant hereditary spherocytosis, an important cause of neonatal nonimmune hemolytic anemia. Biallelic mutations are rarely reported, all with severe neonatal presentation. We describe rapid (68 h) genomic diagnosis of homozygous β-spectrin deficiency in a newborn with severe transfusion-dependent hemolytic anemia, conjugated hyperbilirubinemia, and progressive liver failure. Read More

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http://dx.doi.org/10.1159/000505886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109415PMC
February 2020

Erythrocyte deformability reduction in various pediatric hematologic diseases.

Clin Hemorheol Microcirc 2020 Apr 6. Epub 2020 Apr 6.

Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Republic of Korea.

Background: Previously, hemorheology studies using Rheoscan mainly focused on chronic kidney disease, cardiovascular disease, and endocrine disease in adults. The study using LORCA focused on erythrocyte disease. There were no studies using Rheoscan in children. Read More

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http://dx.doi.org/10.3233/CH-200817DOI Listing

Long-Term Evaluation of the Outcomes of Subtotal Laparoscopic and Robotic Splenectomy in Hereditary Spherocytosis.

World J Surg 2020 Jul;44(7):2220-2228

Department of General Surgery, Fundeni Clinical Institute, 258 Fundeni Street, Bucharest, Romania.

Background: Hereditary spherocytosis (HS) is a common inherited disease affecting the erythrocyte membrane. Total splenectomy (TS) is effective in reducing hemolysis and decreasing the need of transfusions, but total removal of the spleen represents a potential risk factor for infectious and non-infectious complications. On the other hand, subtotal splenectomy (STS) could be an alternative therapy for HS. Read More

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http://dx.doi.org/10.1007/s00268-020-05485-3DOI Listing

Concomitant Laparoscopic Splenectomy and Cholecystectomy: A Systematic Review of the Literature.

J Laparoendosc Adv Surg Tech A 2020 Mar 23. Epub 2020 Mar 23.

Second Propaedeutic Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, Athens, Greece.

Concomitant laparoscopic splenectomy and cholecystectomy (CLSC) is performed for concurrent pathologies of the spleen and gallbladder. This systematic review aimed to evaluate the available evidence on its indications, operative technique, and outcomes. The PubMed and Cochrane bibliographical databases were searched from the beginning of time (last search: December 6, 2019) for studies reporting on CLSC. Read More

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http://dx.doi.org/10.1089/lap.2020.0004DOI Listing

A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.

Kaohsiung J Med Sci 2020 Mar 5. Epub 2020 Mar 5.

Department of Hematology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.

Hereditary spherocytosis (HS) is often misdiagnosed due to lack of specific diagnostic methods. Our study summarized clinical characteristics and described the diagnostic workflow for mild and moderate HS in Chinese individuals, using data from 20 adults, 8 of whom presented a familial history for HS. We used scanning electron microscopy (SEM) to diagnose HS. Read More

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http://dx.doi.org/10.1002/kjm2.12198DOI Listing

Variable Presentation of Hereditary Spherocytosis in an Iranian Family.

Arch Iran Med 2020 Mar 1;23(3):207-210. Epub 2020 Mar 1.

Cell Therapy and Regenerative Medicine Comprehensive Center, Kerman University of Medical Sciences, Kerman, Iran.

Hereditary spherocytosis (HS), a familial defect involving red blood cell (RBC) membrane proteins, is associated with reduced deformability, increased fragility, and progressive destruction of spherical cells. The present study focuses on three subjects of a family showing a history of repeated episodes of lethargy and pallor of unknown etiology. All patients displayed reticulocytosis and spherocytosis and one of them had anemia and splenomegaly. Read More

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SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.

Nefrologia 2020 Feb 26. Epub 2020 Feb 26.

University Medical Centre Ljubljana, University Children's Hospital, Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Institute of Biochemistry, Ljubljana, Slovenia. Electronic address:

Background: Hereditary spherocytosis is clinically and genetically heterogeneous disorder and its clinical characteristics are spherocytosis, anaemia, jaundice and splenomegaly. The aetiology is associated to the genes encoding proteins involved in the interaction between the erythrocyte membrane and the lipid bilayer. Causative variants in βI-spectrin (SPTB) gene presenting as mild to moderately severe disease are responsible for approximately 25% cases in the USA and Europe. Read More

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http://dx.doi.org/10.1016/j.nefro.2019.10.009DOI Listing
February 2020

Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success.

J Pediatr Hematol Oncol 2020 Feb 19. Epub 2020 Feb 19.

Departments of Pediatrics.

Hereditary spherocytosis arises from alterations in the genes encoding red blood cell membrane proteins. Although its diagnosis is mostly clinical, recent advances in next-generation sequencing (NGS) technologies have allowed for a faster cost-effective gene-based diagnosis. We report the case of a boy with spherocytic anemia and development delay in whom a de novo 2. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001742DOI Listing
February 2020

GC-MS and LC-MS/MS pilot studies on the guanidine (N)-dimethylation in native, asymmetrically and symmetrically N-dimethylated arginine-vasopressin peptides and proteins in human red blood cells.

J Chromatogr B Analyt Technol Biomed Life Sci 2020 Mar 7;1141:122024. Epub 2020 Feb 7.

Institute of Toxicology and Core Unit Proteomics, Hannover Medical School, 30623 Hannover, Germany. Electronic address:

Protein-arginine methyltransferases catalyze the methylation of the guanidine (N) group of proteinic L-arginine (Arg) to produce monomethyl and dimethylarginine proteins. Their proteolysis releases the free amino acids monomethylarginine (MMA), symmetric dimethylarginine (SDMA) and asymmetric dimethylarginine (ADMA), respectively. MMA, SDMA and ADMA are inhibitors of the nitric oxide synthase (NOS) activity. Read More

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http://dx.doi.org/10.1016/j.jchromb.2020.122024DOI Listing

Hereditary Spherocytosis Associated with Gilbert Syndrome Diagnosed with Liver Biopsy Examination and Exome Sequencing.

J Coll Physicians Surg Pak 2020 Feb;30(2):213-215

Department of Infectious Diseases, The First Affiliated Hospital of Nanchang University, Jiangxi, China.

Depending on which part of the physiological pathway is affected by the pathology, jaundice is classified into three categories: pre-hepatic/hemolytic, hepatic/hepatocellular, and post-hepatic/cholestatic. With routine laboratory tests, most cases of jaundice can be etiologically diagnosed. However, exceptions do occur. Read More

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http://dx.doi.org/10.29271/jcpsp.2020.02.213DOI Listing
February 2020

Successful Splenectomy Management in a Patient With Moderate Factor VII Deficiency and Concomitant Severe Hereditary Spherocytosis.

J Pediatr Hematol Oncol 2020 Feb 6. Epub 2020 Feb 6.

Pediatric Congenital Hematologic Disorder Research Center, Research Institute for Children's Health.

By the advent of the effective therapies for many coagulation diseases and hereditary spherocytosis (HS), patient's survival has been improved significantly; however, if patients are diagnosed late or left untreated, both diseases could ominously be life threatening. Concurrent occurring of factor VII (FVII) deficiency and HS is extremely rare and there is no literature report that explain this condition, thus far. In this study, we confronted a 9-year-old female patient diagnosed with HS and enlarged spleen as a result of this blood disorder. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001738DOI Listing
February 2020

Stress erythropoiesis in hereditary spherocytosis.

Am J Hematol 2020 Jun 11;95(6):710-711. Epub 2020 Feb 11.

Centre for Haematology, St Mary's Hospital Campus of Imperial College London, St Mary's Hospital, London, UK.

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http://dx.doi.org/10.1002/ajh.25747DOI Listing

Erratum to clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.

Ann Transl Med 2019 Dec;7(Suppl 8):S391

Department of Hematology, Nanjing First Hospital, Nanjing Medical University, Nanjing 210006, China.

[This corrects the article DOI: 10.21037/atm.2019. Read More

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http://dx.doi.org/10.21037/atm.2019.12.120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976519PMC
December 2019

Laparoscopic ligation of splenic vessels for the treatment of hereditary spherocytosis in children.

Pediatr Surg Int 2020 Mar 25;36(3):365-371. Epub 2020 Jan 25.

Department of General Surgery, Capital Institute of Pediatrics, No. 2 Yabaolu Rd., Beijing, 100020, People's Republic of China.

Background: Total splenectomy is the most effective surgical treatment for hereditary spherocytosis (HS). Nevertheless, post-splenectomy sepsis and hypoimmunity can pose a great risk to children. Some alternative treatments have been proposed to avoid the post-splenectomy complications. Read More

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http://dx.doi.org/10.1007/s00383-020-04623-1DOI Listing

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.

J Hum Genet 2020 Apr 24;65(4):427-434. Epub 2020 Jan 24.

Department of Pathology and Lab Medicine, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences, Tianjin, PR China.

Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, hemolysis, splenomegaly, jaundice, and gallstones. To date, mutations in at least five genes (ANK1, EPB42, SLC4A1, SPTA1, and SPTB) have been found to be associated with different subtypes of HS. Here, we aim to investigate the presence of novel as well as known mutations in 35 Chinese patients with clinically suspected HS. Read More

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http://dx.doi.org/10.1038/s10038-020-0724-zDOI Listing

Splenic function is not maintained long-term after partial splenectomy in children with sickle cell disease.

J Pediatr Surg 2020 Jan 7. Epub 2020 Jan 7.

Department of Surgery, St. Jude Children's Research Hospital, 262 Danny Thomas Pl, Memphis, TN 38105, USA; Division of Pediatric Surgery, Department of Surgery, University of Tennessee Health Science Center, Memphis, TN 38105, USA. Electronic address:

Background: Partial splenectomy (PS) may allow preservation of splenic function in cases where splenectomy is indicated for hematologic diseases; however, the long-term outcomes are uncertain. We investigated the long-term outcomes of PS in patients with sickle cell disease (SCD).

Methods: A single-institution retrospective chart review was performed for children with SCD who underwent PS from 1997 to 2017. Read More

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http://dx.doi.org/10.1016/j.jpedsurg.2019.12.006DOI Listing
January 2020

A Novel Compound Heterozygous Mutation in SLC4A1 Gene Causing Severe Hereditary Spherocytosis and Distal Renal Tubular Acidosis.

Indian J Pediatr 2020 03 14;87(3):233-234. Epub 2020 Jan 14.

Department of Pediatrics, West China Second University Hospital, Chengdu, 610041, China.

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http://dx.doi.org/10.1007/s12098-019-03171-4DOI Listing

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Jan;37(1):17-20

Institute of Medical Genetics, Henan Provincial People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, Henan 450003, China.

Objective: To explore the genetic basis of a pedigree affected with hereditary spherocytosis.

Methods: Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.01.005DOI Listing
January 2020

Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis.

Front Pediatr 2019 17;7:506. Epub 2019 Dec 17.

Heart Center, Qingdao Women and Children's Hospital, Qingdao University, Qingdao, China.

A 3-year-old girl was admitted to our hospital for the correction of atrial septal defect (ASD). Open heart operation with cardiopulmonary bypass is dangerous because the patient also had hereditary spherocytosis, which put her at risk for hemolytic anemia. Therefore, percutaneous transcatheter closure for ASD was chosen and performed successfully, which avoided the erythrocyte damage caused by cardiopulmonary bypass. Read More

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http://dx.doi.org/10.3389/fped.2019.00506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929411PMC
December 2019

Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion.

J Neuropathol Exp Neurol 2020 Feb;79(2):238-241

From the Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11. Read More

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http://dx.doi.org/10.1093/jnen/nlz133DOI Listing
February 2020

Evaluation of the Coagulation Profile With Rotational Thromboelastometry in Children With Hereditary Spherocytosis.

J Pediatr Hematol Oncol 2020 May;42(4):e195-e198

Department of Pediatrics, Division of Pediatric Hematology/Oncology.

Hereditary spherocytosis (HS) is a familial hemolytic disorder associated with a variety of mutations that lead to defects in red blood cell (RBC) membrane proteins. There is increasing evidence that hypercoagulability occurs in chronic hemolytic anemia. In this study, changes in the coagulation profile in children with HS were investigated using rotational thromboelastometry. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001702DOI Listing

Linkage of typically cytosolic peroxidases to erythrocyte membrane - A possible mechanism of protection in Hereditary Spherocytosis.

Biochim Biophys Acta Biomembr 2020 Mar 21;1862(3):183172. Epub 2019 Dec 21.

UCIBIO/REQUIMTE, Laboratório de Bioquímica, Departamento de Ciências Biológicas, Faculdade de Farmácia, Universidade do Porto, Porto, Portugal. Electronic address:

Hereditary Spherocytosis (HS) is a non-immune hemolytic anemia associated to oxidative stress (OS), namely to the linkage of cytosolic antioxidant enzymes to the erythrocyte membrane. Our aims were to evaluate erythrocyte OS changes and the membrane linkage of peroxiredoxin 2 (Prx2), glutathione peroxidase (GPx) and catalase (CAT) in unsplenectomized (unspl) and splenectomized (spl) HS patients and to search for associations with clinical severity (in unspl HS patients). We studied 114 HS patients (74 unspl and 40 spl) and 30 healthy individuals and we evaluated membrane bound hemoglobin (MBH), membrane lipid-peroxidation (LPO), enzymatic activities of GPx and CAT and the amounts of membrane bound Prx2, GPx and CAT, as well as, clinical and analytical parameters for characterization of HS. Read More

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http://dx.doi.org/10.1016/j.bbamem.2019.183172DOI Listing

A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings.

Am J Med Genet A 2020 03 19;182(3):561-564. Epub 2019 Dec 19.

Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Fetal Center, Houston, Texas.

Hereditary spherocytosis (HS) is the most common cause of inherited, nonimmune hemolytic anemia. When inherited in an autosomal dominant fashion, the anemia is typically mild. However, severe, transfusion-dependent anemia is seen in autosomal recessive HS, which is often associated with deficient or absent red blood cell membrane protein alpha-spectrin. Read More

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http://dx.doi.org/10.1002/ajmg.a.61455DOI Listing

Development of myelofibrosis and acute monocytic leukemia in a patient with hereditary spherocytosis: A case report.

Medicine (Baltimore) 2019 Dec;98(50):e18266

Department of Hematology, Affiliated Hospital of Nantong University.

Introduction: Common symptoms of hereditary spherocytosis (HS) include intermittent jaundice and splenomegaly. Here, we present an unusual clinical course wherein a patient with HS treated with splenectomy developed secondary myelofibrosis and acute monocytic leukemia (M5).

Patient Concerns: After presenting with paleness, fatigue and jaundice, the patient was diagnosed with HS. Read More

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http://dx.doi.org/10.1097/MD.0000000000018266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6922592PMC
December 2019
5.723 Impact Factor

Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.

Ann Transl Med 2019 Oct;7(20):527

Division of Hematology, Nanjing First Hospital Affiliated to Nanjing Medical University, Nanjing 210006, China.

Background: The present study aimed to use the targeted capture and sequencing technique to diagnose adult hereditary spherocytosis (HS). These results were compared with clinical features and laboratory examinations to explore the diagnosis of HS.

Methods: Whole blood and clinical data from ten patients with HS were collected. Read More

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http://dx.doi.org/10.21037/atm.2019.09.163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861754PMC
October 2019

Disordered bone metabolism in hereditary spherocytosis patients.

Hematology 2019 Dec;24(1):276-281

Department of Physiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.

This study was planned to evaluate bone health in patients with hereditary spherocytosis. In this prospective study, a total of 30 hereditary spherocytosis patients which followed in the Pediatric Hematology and Oncology Department of KSU Medical Faculty and 30 patients for control group were included. Patient and control group were chosen equal in age and sex. Read More

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http://dx.doi.org/10.1080/16078454.2019.1565150DOI Listing
December 2019

Evaluation of a hereditary spherocytosis screening algorithm by automated blood count using reticulocytes and erythrocytic parameters on the Sysmex XN-series.

Int J Lab Hematol 2020 04 22;42(2):e88-e91. Epub 2019 Nov 22.

Department of Laboratory Medicine, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for Life Sciences (NARILIS), CHU UCL Namur, Université catholique de Louvain, Yvoir, Belgium.

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http://dx.doi.org/10.1111/ijlh.13125DOI Listing
April 2020
10 Reads

Applications of imaging flow cytometry in the diagnostic assessment of red cell membrane disorders.

Cytometry B Clin Cytom 2020 May 21;98(3):238-249. Epub 2019 Nov 21.

Department of Hematogenetics, ICMR-National Institute of Immunohematology, KEM Hospital Campus, Mumbai, India.

Background: Red cell membranopathies refers to phenotypically and morphologically heterogeneous disorders. High throughput imaging flow cytometry (IFC) combines the speed, sensitivity, and phenotyping abilities of flow cytometry with the detailed imagery and functional insights of microscopy to produce high content image analysis with quantitative analysis. We have evaluated the applications of IFC to examine both the morphology as well as fluorescence signal intensity in red cell membranopathies. Read More

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http://dx.doi.org/10.1002/cyto.b.21857DOI Listing

Corrigendum: The Spectrum of -Associated Hereditary Spherocytosis.

Front Physiol 2019;10:1331. Epub 2019 Oct 18.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

[This corrects the article DOI: 10.3389/fphys.2019. Read More

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http://dx.doi.org/10.3389/fphys.2019.01331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6843059PMC
October 2019

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.

Hemasphere 2019 Aug 7;3(4):e276. Epub 2019 Aug 7.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Hereditary spherocytosis (HS) is a phenotypically and genetically heterogeneous disease. With the increased use of Next Generation Sequencing (NGS) techniques in the diagnosis of red blood cell disorders, the list of unique pathogenic mutations underlying HS is growing rapidly. In this study, we aimed to explore genotype-phenotype correlation in 95 HS patients genotyped by targeted NGS as part of routine diagnostics (UMC Utrecht, Utrecht, The Netherlands). Read More

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http://dx.doi.org/10.1097/HS9.0000000000000276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745925PMC

Hereditary spherocytosis with successful splenectomy in a pregnant black South African lady: a case report.

Pan Afr Med J 2019 7;33:288. Epub 2019 Aug 7.

Department of Internal Medicine, Walter Sisulu University, Mthatha, South Africa.

Hereditary spherocytosis is a rare cause of chronic haemolytic anaemia. It is rarer in the black population with extremely few cases reported. Initial assessment of a patient with suspected disease should include documenting clinical features of chronic haemolysis and a family history. Read More

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http://dx.doi.org/10.11604/pamj.2019.33.288.18873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815522PMC
November 2019

A large intrathoracic extramedullary hematopoiesis in alpha-thalassemia: A case report.

Medicine (Baltimore) 2019 Nov;98(44):e17612

Department of Respiratory and Critical Medicine, Guangdong Geriaitric Institute, Guangdong Provincial People's Hospital, PR China.

Rationale: Extramedullary hematopoiesis (EMH) is a rare disease characterized by the formation of hematopoietic elements outside the bone marrow driven by several hematological disease. To the best of our knowledge, EMH is relatively common in patient with beta-thalassemia or hereditary spherocytosis but rarely reported in patients with alpha-thalassemia. Here, we discuss a large intrathoracic EMH (measuring 95 mm × 66 mm) without presenting severe complications in alpha-thalassemia along with literature review. Read More

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http://dx.doi.org/10.1097/MD.0000000000017612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946295PMC
November 2019
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[Hereditary spherocytosis in the experience of two pediatric clinics from Targu Mures].

Orv Hetil 2019 Nov;160(45):1798-1803

1. és 2. Sz. Gyermekgyógyászati Klinika, Hematoonkológia Osztály, Marosvásárhelyi Orvosi és Gyógyszerészeti Egyetem Marosvásárhely, Románia.

Hereditary spherocytosis is a genetically determined familial hemolytic anemia. Clinically it is ranged from an asymptomatic condition to severe hemolytic anemia. The major complications are aplastic or megaloblastic crisis, hemolytic crisis, cholecystitis and cholelithiasis. Read More

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http://dx.doi.org/10.1556/650.2019.31345DOI Listing
November 2019
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Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.

Blood Cells Mol Dis 2020 02 22;80:102378. Epub 2019 Oct 22.

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Poland. Electronic address:

Hereditary xerocytosis (HX) is a rare, autosomal dominant congenital hemolytic anemia (CHA) characterized by erythrocyte dehydration with presentation of various degrees of hemolytic anemia. HX is often misdiagnosed as hereditary spherocytosis or other CHA. Here we report three cases of suspected HX and one case of HX associated with β-thalassemia. Read More

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http://dx.doi.org/10.1016/j.bcmd.2019.102378DOI Listing
February 2020

A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.

Gene 2020 Feb 26;726:144226. Epub 2019 Oct 26.

Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Genetics Testing Engineering Research Center, Guangzhou, Guangdong, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, China. Electronic address:

Hereditary spherocytosis is a congenital red blood cell disorder. Typical clinical manifestations include anemia, jaundice and splenomegaly, which overlap with the thalassemia phenotype. Therefore, in high prevalence thalassemia regions, hereditary spherocytosis cases are often misdiagnosed. Read More

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http://dx.doi.org/10.1016/j.gene.2019.144226DOI Listing
February 2020
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Next generation sequencing reveals co-existence of hereditary spherocytosis and Dubin-Johnson syndrome in a Chinese gril: A case report.

World J Clin Cases 2019 Oct;7(20):3303-3309

Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China.

Background: Hereditary spherocytosis (HS) is a hereditary disease of hemolytic anemia that occurs due to the erythrocyte membrane defects. Dubin-Johnson syndrome (DJS), which commonly results in jaundice, is a benign hereditary disorder of bilirubin clearance that occurs only rarely. The co-occurrence of HS and DJS is extremely rare. Read More

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http://dx.doi.org/10.12998/wjcc.v7.i20.3303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819282PMC
October 2019

[Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case].

Zhonghua Er Ke Za Zhi 2019 Nov;57(11):893-895

Department of Pediatry, Beijing United Family Hospital, Beijing 100015, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.11.018DOI Listing
November 2019

Hereditary spherocytosis: a risk factor for thigh pressure myonecrosis in posterior spine surgery.

J Pediatr Orthop B 2019 Oct 22. Epub 2019 Oct 22.

Children's Mercy Hospital, Kansas City, Missouri and.

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http://dx.doi.org/10.1097/BPB.0000000000000686DOI Listing
October 2019

[A Case of Overwhelming Post Splenectomy Infection(OPSI)after Operation for Sigmoid Colon Cancer].

Gan To Kagaku Ryoho 2019 Oct;46(10):1653-1655

Dept. of Surgery, Japanese Red Cross Hadano Hospital.

A 64-year-old woman was diagnosed with hereditary spherocytosis 30 years ago and underwent splenectomy. She presented to the hospital with lower abdominal pain and was diagnosed with sigmoid colon cancer(cT3N3M1[LYM], H1, Stage Ⅳ)for which sigmoidectomy was performed. On the 7th postoperative day, a fever of 40℃ and an inflammatory reaction were observed. Read More

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October 2019