2,847 results match your criteria Spherocytosis Hereditary


Red blood cell phenotyping from 3D confocal images using artificial neural networks.

PLoS Comput Biol 2021 May 13;17(5):e1008934. Epub 2021 May 13.

Department of Experimental Physics, Saarland University, Campus E2.6, Saarbrücken, Germany.

The investigation of cell shapes mostly relies on the manual classification of 2D images, causing a subjective and time consuming evaluation based on a portion of the cell surface. We present a dual-stage neural network architecture for analyzing fine shape details from confocal microscopy recordings in 3D. The system, tested on red blood cells, uses training data from both healthy donors and patients with a congenital blood disease, namely hereditary spherocytosis. Read More

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Clinician's Corner: Anemia at Altitude-Thalassemia, Sickle Cell Disease, and Other Inherited Anemias.

High Alt Med Biol 2021 May 4. Epub 2021 May 4.

Division of Hematology/Medical Oncology, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA.

DeLoughery, Thomas G. Clinician's corner: anemia at altitude-thalassemia, sickle cell disease, and other inherited anemias. 00:000-000, 2021. Read More

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A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.

Mol Genet Genomic Med 2021 May 4:e1641. Epub 2021 May 4.

Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.

Background: We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS).

Methods: Genome-wide linkage, whole-genome sequencing (WGS), Sanger sequencing, RT-PCR, and ToPO TA cloning analyses were performed.

Results: We revealed a heterozygous G>A transition in the 14q23 locus, at position +1 of the intron 8 donor splice site of the spectrin beta, erythrocytic (SPTB) gene. Read More

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Diagnostic Splenectomy: Characteristics, Pre-Operative Investigations, and Identified Pathologies for 20 Patients.

J Clin Med 2021 Apr 6;10(7). Epub 2021 Apr 6.

Service de Médecine Interne et Immunologie Clinique, APHP, Hôpitaux Universitaires Paris Saclay, Hôpital Bicêtre, 94720 Le Kremlin-Bicêtre, France.

Splenectomy is indicated in cases of trauma to the spleen or hematological and immunological diseases (hereditary spherocytosis, autoimmune cytopenia). Less frequently, splenectomy is performed for diagnostic purposes to complement unsuccessful prior etiological investigations. The splenectomy remains a surgery at risk of complications and should be considered as a last-resort procedure to make the diagnosis and to be able to treat patients. Read More

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Acute human parvovirus B19 infection triggers immune-mediated transient bone marrow failure syndrome, extreme direct hyperbilirubinaemia and acute hepatitis in patients with hereditary haemolytic anaemias: multicentre prospective pathophysiological study.

Br J Haematol 2021 May 25;193(4):827-840. Epub 2021 Apr 25.

Department of Clinical and Chemical Pathology, Faculty of Medicine, Sohag University, Sohag, Egypt.

A total of 244 patients with hereditary haemolytic anaemias (HHA) were screened for acute symptomatic human parvovirus B19 infection (HPV-B19) in a prospective study. To assess the risks associated with HPV-B19 infection, patients were classified into Group I and Group II according to presence or absence (symptoms, signs and specific serology) of acute HPV-B19 infection respectively. In all, 131 (53·7%) patients had β-thalassaemia, 75 (30·7%) hereditary spherocytosis (HS), 27 (11·1%) sickle cell anaemia (SCA) and 11 (4·5%) glucose-6-phosphate dehydrogenase (G6PD) deficiency. Read More

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Preliminary Study on the Clinical and Genetic Characteristics of Hereditary Spherocytosis in 15 Chinese Children.

Front Genet 2021 18;12:652376. Epub 2021 Mar 18.

The Affiliated Children's Hospital of Nanchang University, Nanchang, China.

Objective: To investigate the clinical and genetic characteristics of hereditary spherocythemia (HS) in Chinese children, and to analyze the potential genotypic/phenotypic associations.

Methods: The clinical data and gene test results of children with HS were collected. All patients were diagnosed by gene test results, and the laboratory results were obtained before splenectomy. Read More

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[Erythroblastic hyperplasia secondary to acute parvovirus B19 infection: A case report].

Rev Chilena Infectol 2020 Dec;37(6):775-779

Departamento de Anatomía patológica, Hospital Dr. Eduardo Pereira, Valparaíso, Chile.

Acute parvovirus B19 infection is a self-limiting disease in patients with normal immune response. However, in patients with blood dyscrasias, it is possible to present with an aplastic crisis. We present the case of a 48-year-old man who had developed an aplastic crisis as a result of an acute parvovirus B19 infection with an undiagnosed hereditary spherocytosis. Read More

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December 2020

Ektacytometry Analysis of Post-splenectomy Red Blood Cell Properties Identifies Cell Membrane Stability Test as a Novel Biomarker of Membrane Health in Hereditary Spherocytosis.

Front Physiol 2021 25;12:641384. Epub 2021 Mar 25.

Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

Hereditary spherocytosis (HS) is the most common form of hereditary chronic hemolytic anemia. It is caused by mutations in red blood cell (RBC) membrane and cytoskeletal proteins, which compromise membrane integrity, leading to vesiculation. Eventually, this leads to entrapment of poorly deformable spherocytes in the spleen. Read More

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Hereditary spherocytosis diagnosed with extremely low glycated hemoglobin compared to plasma glucose levels.

Diabetol Int 2021 Apr 12;12(2):229-233. Epub 2020 Jul 12.

Department of Kidney Disease, Kawashima Hospital, 1-39 Kitasakoichiban-cho, Tokushima, Tokushima 770-0011 Japan.

Glycated hemoglobin (HbA1c) is an important indicator of glycemic control in patients with diabetes. High-performance liquid chromatography (HPLC) is the most commonly used method for measuring HbA1c levels; as HPLC measures all hemoglobin types, the values can be influenced by hemoglobin variants. Moreover, as HPLC-HbA1c levels are low in some diseases, including hemolytic anemia, it may be difficult to differentiate hemoglobin variants from these diseases based on HPLC-HbA1c levels alone. Read More

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Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report.

Medicine (Baltimore) 2021 Mar;100(12):e24804

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

Rationale: The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Read More

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Vasculo-toxic and pro-inflammatory action of unbound haemoglobin, haem and iron in transfusion-dependent patients with haemolytic anaemias.

Br J Haematol 2021 May 15;193(3):637-658. Epub 2021 Mar 15.

Molecular Medicine Partnership Unit (MMPU), European Molecular Biology Laboratory (EMBL), Heidelberg University, Heidelberg, Germany.

Increasing evidence suggests that free haem and iron exert vasculo-toxic and pro-inflammatory effects by activating endothelial and immune cells. In the present retrospective study, we compared serum samples from transfusion-dependent patients with β-thalassaemia major and intermedia, hereditary spherocytosis and sickle cell disease (SCD). Haemolysis, transfusions and ineffective erythropoiesis contribute to haem and iron overload in haemolytic patients. Read More

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Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature.

BMC Med Genomics 2021 Mar 11;14(1):77. Epub 2021 Mar 11.

Department of Hematology/Oncology, Shenzhen Children's Hospital, No. 7019 Yitian Rd, Shenzhen, Guangdong, China.

Background: To strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations result in HS, including mutations in ANK1. Read More

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Biochemical, Cellular, and Proteomic Characterization of Hereditary Spherocytosis Among Tunisians.

Cell Physiol Biochem 2021 Mar;55(1):117-129

Laboratoire d'Hématologie Moléculaire et Cellulaire (LR16IPT07), Institut Pasteur de Tunis, Tunis, Tunisie.

Background/aims: Hereditary Spherocytosis (HS) is the most common erythrocyte membrane disorder causing hemolytic anemia. The wide heterogeneity of both clinical and laboratory manifestations of HS contributes to difficulties associated with the diagnosis of this disorder. Although massive data previously reported worldwide, there is yet no data on HS among the Tunisian population. Read More

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Microfluidic electrical impedance assessment of red blood cell-mediated microvascular occlusion.

Lab Chip 2021 03 5;21(6):1036-1048. Epub 2021 Mar 5.

Mechanical and Aerospace Engineering Department, Case Western Reserve University, 10900 Euclid Ave., Cleveland, OH 44106, USA.

Alterations in the deformability of red blood cells (RBCs), occurring in hemolytic blood disorders such as sickle cell disease (SCD), contribute to vaso-occlusion and disease pathophysiology. There are few functional in vitro assays for standardized assessment of RBC-mediated microvascular occlusion. Here, we present the design, fabrication, and clinical testing of the Microfluidic Impedance Red Cell Assay (MIRCA) with embedded capillary network-based micropillar arrays and integrated electrical impedance measurement electrodes to address this need. Read More

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A Novel Mutation in Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.

Ann Clin Lab Sci 2021 Jan;51(1):136-139

Department of Laboratory Medicine, College of Medicine, Inha University, Incheon, Korea

Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. Read More

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January 2021

Partial Splenectomy for a Sizeable Cavernous Hemangioma: Case Report and a Review of the Literature.

Cureus 2021 Jan 24;13(1):e12882. Epub 2021 Jan 24.

Surgical Oncology, Mohammed VI University Hospital, Regional Oncology Center, Oujda, MAR.

The recent awareness of the spleen's important role, especially its immune function, has fundamentally changed the management of splenic diseases, promoting the splenic preserving surgery, and protecting from the significant risk of total splenectomy: overwhelming post-splenectomy sepsis. Partial splenectomy is a safe and feasible technique that offers, according to the literature, the same results of a total approach, either in achieving hematological benefits in congenital hemolytic anemia, or treating the focal splenic lesion such as hemangioma, while preserving the immune function. Read More

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January 2021

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

Mol Genet Genomic Med 2021 Apr 23;9(4):e1577. Epub 2021 Feb 23.

Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.

Purpose: Objective to summarize the clinical features and laboratory findings of 28 Chinese children with hereditary spherocytosis (HS), and analyze these mutations.

Method: Collected and analyzed the clinical data of all children and their parents, and completed the relevant laboratory examinations of all children. Analyzed the sequence of related genes by second-generation sequencing technology, and verified the suspected mutations by Sanger sequencing method. Read More

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Chronic Hemolysis May Adversely Affect Skeletal Health. A Cross-Sectional Study of a Pediatric Population.

Hemoglobin 2021 Jan 8;45(1):30-36. Epub 2021 Feb 8.

Thalassemia Unit, Agia Sophia Children's Hospital, Athens, Greece.

Hereditary hemolytic disorders cause ineffective erythropoiesis and bone marrow hyperplasia. Little is known about their effect on growth and skeletal health. The aim of this study was to evaluate growth, bone and body composition of non transfusion-dependent (NTD) pediatric patients with chronic hemolysis. Read More

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January 2021

Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia.

Front Immunol 2020 15;11:620046. Epub 2021 Jan 15.

Division of Pediatric Oncology/Hematology, Meyer University Children's Hospital, Florence, Italy.

gain-of-function (GOF) mutations can be responsible for an incomplete phenotype mainly characterized by hematological autoimmunity, even in the absence of other organ autoimmunity, growth impairment, or severe infections. We hereby report a case with an incomplete form of GOF intensified by a concomitant hereditary hematological disease, which misleads the diagnosis. The patient presented with lymphadenopathy, splenomegaly, hypogammaglobulinemia, and severe autoimmune hemolytic anemia (AIHA) with critical complications, including stroke. Read More

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January 2021

Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series.

Clin Pediatr (Phila) 2021 03 22;60(3):151-153. Epub 2021 Jan 22.

University of Queensland, Herston, Queensland, Australia.

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Laparoscopic Partial Splenectomy: A Critical Appraisal of an Emerging Technique. A Review of the First 457 Published Cases.

J Laparoendosc Adv Surg Tech A 2021 Jan 20. Epub 2021 Jan 20.

Unità di Scienze Chirurgiche, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italia.

Laparoscopic partial splenectomy (LPS) may allow avoiding total splenectomy (TS) complications and maximizing the advantages of mini-invasive approach. The objective of this review is to assess feasibility and safety of LPS, to compare this approach with alternative options. A literature review of articles reporting LPS is performed. Read More

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January 2021

A novel SLC4A1 splice variant (c.2655+2_2655+3 del) in hereditary spherocytosis.

Int J Lab Hematol 2021 Jan 20. Epub 2021 Jan 20.

Veterans Affairs Medical Center, Washington, DC, USA.

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January 2021

Partial splenectomy in children: Long-term reoperative outcomes.

J Pediatr Surg 2021 Jan 8. Epub 2021 Jan 8.

Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, USA. Electronic address:

Purpose: Partial, or subtotal, splenectomy (PS) has become an accepted alternative to total splenectomy (TS) for management of hematologic disorders in children, but little is known about its long-term outcomes. Here, we present our institutional experience with partial splenectomy, to determine rate of subsequent TS or cholecystectomy and identify if any factors affected this need.

Methods: All patients who underwent partial splenectomy at a single tertiary children's hospital were retrospectively reviewed from 2002 through 2019 after IRB approval. Read More

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January 2021

Human ankyrins and their contribution to disease biology: An update.

J Biosci 2020 ;45

Immunogenomics Laboratory, Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, Punjab 151401, India.

Ankyrins are ubiquitously expressed proteins that play a critical role in the integrity of cytoskeleton and cellular signalling. Their presence in metazoans and evolutionary conserved protein primary sequence indicates their functional significance. Tissue-specific isoforms and an array of transcript variants make this protein one of the indispensable cellular components. Read More

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January 2020

Systematic analysis of frequency dependent differential photoacoustic cross-section data for source size estimation.

J Opt Soc Am A Opt Image Sci Vis 2020 Dec;37(12):1895-1904

A frequency dependent differential photoacoustic cross-section (DPACS) over a large frequency band (100-1000 MHz) was computed, and subsequently, morphological parameters of a photoacoustic (PA) source were quantified. The Green's function approach was utilized for calculating the DPACS for spheroidal droplets with varying aspect ratios, Chebyshev particles with different waviness and deformation parameters, and normal red blood cells and cells affected by hereditary disorders (e.g. Read More

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December 2020

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1).

Mutat Res 2020 Oct - Dec;786:108336. Epub 2020 Oct 9.

Department of Genetics, Faculty of Biology, University of Adam Mickiewicz, Poznan, 61-614, Poland. Electronic address:

The etiology and severity of anemia, a common blood disorder, are diverse. Dominant mutations in Krüppel-like factor 1 (KLF1/EKLF) underlie the molecular basis for some of them. KLF1 is a zinc finger transcription factor that plays an essential role in red blood cell proliferation and differentiation. Read More

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February 2021

Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a new variant in the band 3 protein.

Authors:
Indra Ramasamy

BMJ Case Rep 2020 Dec 9;13(12). Epub 2020 Dec 9.

Biochemistry, Worcestershire Acute Hospitals NHS Trust, Worcester, UK

Red blood cell (RBC) membrane disorders are predominantly caused by mutations resulting in decreased RBC deformability and permeability. We present a family in which, the proband and his daughter presented with pseudohypokalaemia. Studies on the temperature dependence of pseudohypokalaemia suggested a maximum decrease in serum potassium when whole blood is stored at 37°C. Read More

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December 2020

Expression of Somatostatin Receptor Subtypes (SSTR-1-SSTR-5) in Pediatric Hematological and Oncological Disorders.

Molecules 2020 Dec 7;25(23). Epub 2020 Dec 7.

Department of Biopharmacy, Faculty of Pharmacy, University of Debrecen, 4032 Debrecen, Hungary.

Hematological and oncological disorders represent leading causes of childhood mortality. Neuropeptide somatostatin (SST) has been previously demonstrated in various pediatric tumors, but limited information exists on the expression and characteristics of SST receptors (SSTR) in hematological and oncological disorders of children. We aimed to investigate the expression of mRNA for SSTR subtypes (SSTR-1-5) in 15 pediatric hematological/oncological specimens by RT-PCR. Read More

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December 2020

Open heart surgery in an infant with hereditary spherocytosis and a review of literature.

J Card Surg 2021 Feb 7;36(2):720-722. Epub 2020 Dec 7.

Department of Pathology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

Hemolytic anemia often challenges congenital heart surgery. Hereditary spherocytosis is a rare familial hemolytic anemia. When associated with congenital heart disease, the safe performance of cardiopulmonary bypass becomes a priority. Read More

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February 2021