• A case of hereditary pyropoikilocytosis with mild expression and delayed onset
• A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical
• A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis
• A Novel alpha-Spectrin Pathogenic Variant in Trans to alpha-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome
• A novel mobile element inserted in the alpha spectrin gene: spectrin dayton. A truncated alpha spectrin associated with hereditary elliptocytosis
• A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred
• A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome
• A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY
• A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
• Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
• Abnormal tryptic peptide from the spectrin alpha-chain resulting from alpha- or beta-chain mutations: two genetically distinct forms of the Sp alpha I/74 variant
• Abnormalities of the erythrocyte membrane
• Acquired "pyro"-poikilocytosis
• Advances in understanding the pathogenesis of red cell membrane disorders
• Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis
• An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism
• Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells
• Association studies of erythroid alpha-spectrin at the tetramerization site
• Cabot rings and marked anisopoikilocytosis in Imerslund-Gräsbeck syndrome
• Case Report: alpha-Spectrin Mutation Associated with alphaLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis
• Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis
• 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 utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience
• Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report
• Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex
• Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins
• Differential control of band 3 lateral and rotational mobility in intact red cells
• Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis
• Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis
• Erythrocyte membrane defects in hemolytic anemias found through derivative thermal analysis of electric impedance
• Erythrocytes carrying mutations in spectrin and protein 4.1 show differing sensitivities to invasion by Plasmodium falciparum
• Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia
• Genetic basis of the polymorphisms of the alphaI domain of spectrin
• Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis
• Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis
• Hemolytic anemia caused by membrane abnormalities
• Hereditary Elliptocytosis
• Hereditary Elliptocytosis
• Hereditary Elliptocytosis with Pyropoikilocytosis
• Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity
• Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain
• Hereditary pyropoikilocytosis and the spectrin St. Claude allele
• Hereditary pyropoikilocytosis diagnosis in an infant: benefit of histograms and peripheral smear review
• Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy
• Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease
• Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia
• Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children
• Hereditary red cell membrane disorders and laboratory diagnostic testing
• Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders
• Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide
• Homozygous SPTA1-associated hereditary pyropoikilocytosis presenting as hydrops fetalis
• ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders
• Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site
• Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes
• Insane in the membrane: A case of hereditary spherocytic pyropoikilocytosis
• Laboratory Approach to Hemolytic Anemia
• Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis
• Molecular basis of erythrocyte membrane disorders
• Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis
• Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry
• Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes
• Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis
• Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis
• Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis
• Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects
• Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of beta globin and alpha spectrin mutations
• Novel mechanism of hereditary pyropoikilocytosis phenotype due to co-inheritance of β globin and α spectrin mutations
• Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia
• One-step amplification refractory mutation system-PCR/high-resolution melting curve assay for carrier detection of red blood cell membranopathy caused by common SPTB mutations
• Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis
• Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding
• Persistent neonatal jaundice resulting from hereditary pyropoikilocytosis
• Placental Histopathologic Findings in Fetal Hereditary Pyropoikilocytosis after Undergoing Successful Intrauterine Transfusion
• Pseudopyropoikilocytosis: a striking artefact
• Red blood cell membrane defects
• Red blood cell membrane disorders
• Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants
• Red cell membrane disorders
• Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia
• Sequences downstream of the erythroid promoter are required for high level expression of the human alpha-spectrin gene
• Severe conjugated hyperbilirubinaemia and neonatal haemolysis
• Severe hemolysis and red cell fragmentation caused by the combination of a spectrin mutation with a thrombotic microangiopathy
• Severe poikilocytosis associated with a de novo alpha 28 Arg-->Cys mutation in spectrin
• Severe recessive poikilocytic anaemia with a new spectrin alpha chain variant
• Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis
• Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site
• Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis
• Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes
• Targeted next generation sequencing identifies a novel beta-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis
• Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis
• The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation
• Three Novel Spectrin Variants in Jaundiced Neonates
• Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis
• Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism
• Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing
• Update on the clinical spectrum and genetics of red blood cell membrane disorders
• Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis
• Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis
• Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan
• Yield of reticulocyte counts and blood smears in term infants