• <em>PIEZO1</em> Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
• A Comparison of Single-Incision Versus Multiport Laparoscopic Splenectomy in Children
• A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report
• A Novel <em>de novo</em> Mutation in <em>ANK1</em> Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis
• A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis
• A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis
• A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report
• A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
• A Systematic review on diagnostic methods of red cell membrane disorders in Asia
• A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis
• Aberrant splicing contributes to severe alpha-spectrin-linked congenital hemolytic anemia
• Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
• 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
• Advances in understanding the pathogenesis of red cell membrane disorders
• Ankyrins in human health and disease - an update of recent experimental findings
• Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review
• Case report: Genetic analysis of a novel intronic inversion variant in the <em>SPTB</em> gene associated with hereditary spherocytosis
• Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis
• Characterization of hereditary red blood cell membranopathies using combined targeted next-generation sequencing and osmotic gradient ektacytometry
• Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis
• Clinical Exome Sequencing Reveals Novel Mutations in SPTB Gene Associated with Hereditary Spherocytosis in Patients with Suspected Congenital Hemolytic Anemia
• Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience
• Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report
• Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review
• Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients
• Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis
• Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
• Congenital Hemolytic Anemias: Is There a Role for the Immune System?
• Consensus document for the diagnosis and treatment of pyruvate kinase deficiency
• Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol
• Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics
• Diagnosis and clinical management of red cell membrane disorders
• Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
• Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics
• Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
• Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis
• Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study
• Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation
• Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency
• Exome sequencing for diagnosis of congenital hemolytic anemia
• Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child
• Fetal-maternal incompatibility in the Rh system. Rh isoimmunization associated with hereditary spherocytosis: case presentation and review of the literature
• Flow Cytometry as a New Accessible Method to Evaluate Diagnostic Osmotic Changes in Patients with Red Blood Cell Membrane Defects
• Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region
• Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis
• Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction
• Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks
• Hereditary Non-Spherocytic Hemolytic Anemia (HNSHA): Four Children with Rare Hereditary Red Cell Enzymopathies
• Hereditary red blood cell membrane defects. Detection of <em>PIEZO1</em> mutations associated with <em>SPTA1</em> mutations. An unusual clinical case of hereditary xerocytosis
• Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis
• Hereditary Spherocytosis
• Hereditary Spherocytosis
• Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia
• Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane
• Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
• Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel beta-globin mutation
• Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation
• How I approach hereditary hemolytic anemia and splenectomy
• Hypercoagulability evaluation in congenital red blood cell disorders using thrombin generation assay
• Identification of a novel ANK1 mutation in hereditary spherocytosis co-existing with BWS
• Insane in the membrane: A case of hereditary spherocytic pyropoikilocytosis
• Laboratory Approach to Hemolytic Anemia
• LONG-TERM HEMATOLOGIC AND CLINICAL OUTCOMES OF SPLENECTOMY IN CHILDREN WITH HEREDITARY SPHEROCYTOSIS AND SICKLE CELL DISEASE
• Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study
• Mild erythrocytosis as a presenting manifestation of <em>PIEZO1</em> associated erythrocyte volume disorders
• Molecular heterogeneity of pyruvate kinase deficiency
• Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis
• Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report
• Novel pathogenic variant c.2714C&gt;A (p. Thr905Lys) in the <em>HK1</em> gene causing severe haemolytic anaemia with developmental delay in an Indian family
• Open heart surgery in an infant with hereditary spherocytosis and a review of literature
• Osmotic gradient ektacytometry: A tool for more than just hereditary haemolytic anaemia
• Partial Splenectomy for a Sizeable Cavernous Hemangioma: Case Report and a Review of the Literature
• PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
• PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G &gt; A and c.1058delAAG variants
• Prevalence of Congenital Hemolytic Disorders in Denmark, 2000-2016
• Previously misdiagnosed red cell membrane disorder and familial consequences
• Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
• Rapid Identification of Biallelic <em>SPTB</em> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
• Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
• Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias
• Red Blood Cell Metabolism in Pyruvate Kinase Deficient Patients
• Red blood cell phenotyping from 3D confocal images using artificial neural networks
• Red cell ektacytometry in two patients with chronic hemolytic anemia and three new alpha-spectrin variants
• Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants
• Red cell membrane disorders and thalassemia
• Screening for hereditary spherocytosis in daily practice: what is the best algorithm using erythrocyte and reticulocyte parameters?
• Severe anemia caused by dominant mutations in Kruppel-like factor 1 (KLF1)
• Severe autoimmune hemolytic anemia complicating hereditary spherocytosis treated successfully with glucocorticoids and cyclosporine: a case report
• Severe neonatal hyperbilirubinemia secondary to combined RhC hemolytic disease, congenital hypothyroidism and large adrenal hematoma: a case report
• Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues
• Spontaneous resolution of prenatally diagnosed isolated pleural effusion: An unusual early sign of a newborn disease
• Successful Splenectomy Management in a Patient With Moderate Factor VII Deficiency and Concomitant Severe Hereditary Spherocytosis
• Targeted next-generation sequencing identified a novel <em>ANK1</em> mutation associated with hereditary spherocytosis in a Chinese family
• Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family
• Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil
• Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population
• The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency
• The Successful Use of an Exchange Transfusion in a Child with Hereditary Spherocytosis Undergoing Congenital Cardiac Surgery
• The variable manifestations of disease in pyruvate kinase deficiency and their management
• Vincristine-induced anemia in hereditary spherocytosis