124 results match your criteria Pyropoikilocytosis Hereditary


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.

Front Physiol 2020 19;11:636. Epub 2020 Jun 19.

Children's Hospital of Michigan, Detroit, MI, United States.

The measurement of band 3 (AE1, SLC4A1, CD233) content of red cells by eosin-5- maleimide (EMA) staining is swiftly replacing conventional osmotic fragility (OF) test as a tool for laboratory confirmation of hereditary spherocytosis across the globe. Our group has systematically evaluated the EMA test as a method to screen for a variety of anemias in the last 10 years, and compared these results to those obtained with the osmotic gradient ektacytometry (osmoscans) which we have used over three decades. Our overall experience allowed us to characterize the distinctive patterns with the two tests in several congenital erythrocyte membrane disorders, such as hereditary spherocytosis (HS), hereditary elliptocytosis (HE), Southeast Asian Ovalocytosis (SAO), hereditary pyropoikilocytosis (HPP) variants, erythrocyte volume disorders, various red cell enzymopathies, and hemoglobinopathies. Read More

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Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.

Blood Cells Mol Dis 2020 11 25;85:102462. Epub 2020 Jun 25.

Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America; Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America.

Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c. Read More

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November 2020

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.

J Pediatr Hematol Oncol 2021 03;43(2):e250-e254

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya.

Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the αLELY allele in SPTA1. Read More

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Laboratory Approach to Hemolytic Anemia.

Indian J Pediatr 2020 01 10;87(1):66-74. Epub 2019 Dec 10.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. They are characterized by decreased levels of circulating erythrocytes in blood. The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. Read More

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January 2020

Advances in understanding the pathogenesis of red cell membrane disorders.

Br J Haematol 2019 10 31;187(1):13-24. Epub 2019 Jul 31.

Department of Molecular Medicine and Medical Biotechnologies, Federico II" University of Naples, Naples, Italy.

Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened erythrocyte survival. Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural organisation (hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis and Southeast Asian ovalocytosis) or (ii) altered membrane transport function (overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis or xerocytosis, familial pseudohyperkalaemia and cryohydrocytosis). Read More

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October 2019

Coinheritance of beta-thalassemia minor and hereditary pyropoikilocytosis: case report.

Hematol Transfus Cell Ther 2020 Jan - Mar;42(1):87-89. Epub 2019 Apr 29.

Academia de Ciência e Tecnologia (AC&T), São José do Rio Preto, SP, Brazil.

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Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

J Clin Invest 2019 04 30;129(7):2878-2887. Epub 2019 Apr 30.

Department of Pediatrics.

The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole exome sequencing of DNA from probands of 24 rHS or HPP kindreds identified numerous mutations in erythrocyte membrane α-spectrin (SPTA1). Twenty-eight mutations were novel, with null alleles frequently found in trans to missense mutations. Read More

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Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.

Pediatr Blood Cancer 2019 02 4;66(2):e27531. Epub 2018 Nov 4.

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

The broad phenotypic variability among individuals with sickle cell disease (SCD) suggests the presence of modifying factors. We identified two unrelated SCD patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis-associated alpha-spectrin mutation c.460_462dupTTG (p. Read More

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February 2019

Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.

Clin Chim Acta 2018 Dec 11;487:311-317. Epub 2018 Oct 11.

Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan; School of Medicine, China Medical University, Taichung, Taiwan; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan. Electronic address:

Purpose: Congenital hemolytic anemia caused by red blood cell (RBC) membrane defects is a heterogeneous group of disorders. The present study aimed to search the causative gene mutations in patients with RBC membrane disorders in Taiwan.

Materials And Methods: Next-generation sequencing approach using whole-exome sequencing (WES) was performed. Read More

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December 2018

Acquired "pyro"-poikilocytosis.

Blood 2017 12;130(25):2808

Centre Hospitalier Universitaire Nancy.

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December 2017

Three Novel Spectrin Variants in Jaundiced Neonates.

Clin Pediatr (Phila) 2018 Jan 15;57(1):19-26. Epub 2017 Jan 15.

1 University of Utah, Salt Lake City, UT, USA.

Various mutations in the genes encoding alpha spectrin (SPTA1) or beta spectrin (SPTB) are known to cause erythrocyte membrane disorders, sometimes associated with severe neonatal jaundice and anemia. We used a next-generation sequencing panel to evaluate 3 unrelated neonates who had puzzling cases of nonimmune hemolytic jaundice. In each case, we identified novel mutations in either SPTA1 or SPTB. Read More

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January 2018

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood Cells Mol Dis 2016 10 17;61:4-9. Epub 2016 Jul 17.

Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. Read More

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October 2016

Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease.

S D Med 2016 May;69(5):208-209

Department of Pathology, University of South Dakota Sanford School of Medicine.

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A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY.

J La State Med Soc 2016 Jan-Feb;168(1):6-7. Epub 2016 Feb 15.

Dr. Cotelingam is associated with the Department of Pathology.

A seven-year-old African-American male presented with a history of hematuria, proteinuria, jaundice, and anemia occasionally treated with transfusions since early childhood. The family history included a father and sister with similar symptoms of anemia, both of which had been diagnosed with hereditary pyropoikilocytosis. Due to the patient's family history and symptoms indicating a possible hematologic problem, a blood draw was performed. Read More

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Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Clin Genet 2016 07 15;90(1):69-78. Epub 2016 Mar 15.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed to investigate the mutational gene- or domain-specific laboratory and clinical association. Twenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42. Read More

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Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.

Biomed Res Int 2015 18;2015:451861. Epub 2015 Oct 18.

Department of Laboratory Medicine, Kawasaki Medical School, Kurashiki, Japan.

Flow cytometric test for analyzing the eosin-5-maleimide (EMA) binding to red blood cells has been believed to be a specific method for diagnosing hereditary spherocytosis (HS). However, it has been reported that diseases other than HS, such as hereditary pyropoikilocytosis (HPP) and Southeast Asian ovalocytosis (SAO), which are forms in the category of hereditary elliptocytosis (HE), show decreased EMA binding to red blood cells. We analyzed EMA binding to red blood cells in 101 healthy control subjects and 42 HS patients and obtained a mean channel fluorescence (MCF) cut-off value of 36. Read More

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Hereditary Elliptocytosis with Pyropoikilocytosis.

Turk J Haematol 2016 Mar 6;33(1):86-7. Epub 2015 Aug 6.

Hacettepe University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Turkey. E-mail:

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ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

Int J Lab Hematol 2015 Jun 18;37(3):304-25. Epub 2015 Mar 18.

Membrane Biochemistry, NHS Blood and Transplant, Bristol, UK.

Introduction: Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane proteins. The heterogeneous clinical presentation, biochemical and genetic abnormalities in HS and HE have been well documented. The need to raise the awareness of HSt, albeit its much lower prevalence than HS, is due to the undesirable outcome of splenectomy in these patients. Read More

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Abnormalities of the erythrocyte membrane.

Pediatr Clin North Am 2013 Dec 15;60(6):1349-62. Epub 2013 Oct 15.

Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520-8064, USA. Electronic address:

Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Read More

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December 2013

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.

Neonatology 2014 31;105(1):1-4. Epub 2013 Oct 31.

Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, Utah, USA.

We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Read More

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September 2014

Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.

Haematologica 2013 Dec 27;98(12):1972-9. Epub 2013 Sep 27.

Hereditary pyropoikilocytosis is a severe hemolytic anemia caused by spectrin deficiency and defective spectrin dimer self-association, typically found in African populations. We describe two Utah families of northern European ancestry including 2 propositi with atypical non-microcytic hereditary pyropoikilocytosis, 7 hereditary elliptocytosis members and one asymptomatic carrier. The underlying molecular defect is a novel mutation in the alpha(α) spectrin gene, SPTA(R34P) that impairs spectrin tetramer formation. Read More

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December 2013

The common hereditary elliptocytosis-associated α-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation.

Blood 2013 Oct 23;122(17):3045-53. Epub 2013 Aug 23.

The Center for Systems and Computational Biology and Molecular and Cellular Oncogenesis Program, The Wistar Institute, Philadelphia, PA;

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are common disorders of erythrocyte shape primarily because of mutations in spectrin. The most common HE/HPP mutations are located distant from the critical αβ-spectrin tetramerization site, yet still interfere with formation of spectrin tetramers and destabilize the membrane by unknown mechanisms. To address this question, we studied the common HE-associated mutation, αL260P, in the context of a fully functional mini-spectrin. Read More

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October 2013

Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

Blood Rev 2013 Jul 9;27(4):167-78. Epub 2013 May 9.

AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, F-75019, France.

Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cell. Defects in various proteins involved in linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skeleton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. Read More

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