Disease: Pyropoikilocytosis
- 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