856 results match your criteria Elliptocytosis Hereditary

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1.

Am J Med Genet A 2022 05 27;188(5):1578-1582. Epub 2022 Jan 27.

Department of Otorhinolaryngology, Head&Neck surgery, Leiden University Medical Centre, Leiden, Netherlands.

Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In this report, we present three female relatives of a male fetus with an intragenic deletion in this X-linked gene. All three women reported hearing loss and one was born with a soft cleft palate and hip dysplasia. Read More

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Diagnosis and clinical management of red cell membrane disorders.

Hematology Am Soc Hematol Educ Program 2021 12;2021(1):331-340

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

Heterogeneous red blood cell (RBC) membrane disorders and hydration defects often present with the common clinical findings of hemolytic anemia, but they may require substantially different management, based on their pathophysiology. An accurate and timely diagnosis is essential to avoid inappropriate interventions and prevent complications. Advances in genetic testing availability within the last decade, combined with extensive foundational knowledge on RBC membrane structure and function, now facilitate the correct diagnosis in patients with a variety of hereditary hemolytic anemias (HHAs). Read More

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December 2021

Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.

Ann Hematol 2022 Mar 29;101(3):549-555. Epub 2021 Nov 29.

Hematology Department, Hospital Universitari de La Santa Creu i Sant Pau, Barcelona, Spain.

Red blood cell (RBC) morphology is, in general, the key diagnostic feature for hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). However, in hereditary pyropoikilocytosis (HPP), the severe clinical form of HE, the morphological diagnosis is difficult due to the presence of a RBC morphological picture characterized by a mixture of elliptocytes, spherocytes, tear-drop cells, and fragmented cells. This difficulty increases in new-borns and/or patients requiring frequent transfusions, making impossible the prediction of the disease course or its severity. Read More

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Detection of Southern Asian Ovalocytosis with Sysmex XN-10: A complement to the decision tree previously described.

Int J Lab Hematol 2022 Apr 18;44(2):e84-e86. Epub 2021 Oct 18.

Laboratoire d'Hématologie, Hôpital de la Timone, Assistance Publique - Hôpitaux de Marseille, Marseille, France.

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Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.

Orphanet J Rare Dis 2021 10 9;16(1):415. Epub 2021 Oct 9.

Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis. These rare and heterogeneous conditions may generate several difficulties from the diagnostic point of view. Membrane defects include hereditary spherocytosis and elliptocytosis, and the group of hereditary stomatocytosis; glucose-6-phosphate dehydrogenase and pyruvate kinase, are the most common enzyme deficiencies. Read More

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October 2021

Persistent neonatal jaundice resulting from hereditary pyropoikilocytosis.

Am J Hematol 2022 04 29;97(4):506-507. Epub 2021 Sep 29.

Centre for Haematology, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, UK.

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Pseudothrombocytosis due to small misshapen RBC and fragmented RBC in coexistence of beta thalassemia minor and secondary elliptocytosis.

Int J Lab Hematol 2022 Feb 9;44(1):e29-e31. Epub 2021 Aug 9.

Department of Clinical Laboratory, Affiliated Hospital of Engineering University of Hebei, Handan, Hebei, China.

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February 2022

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

J Clin Lab Anal 2021 Jun 4;35(6):e23781. Epub 2021 May 4.

Department of Laboratory Medicine, the First Affiliated Hospital of Shantou University Medical College, Shantou, P.R. China.

Background: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion-dependent anemia. Most patients are asymptomatic or have mild anemia, which hinders diagnosis. Read More

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Acquired elliptocytosis as presenting sign of a myelodysplastic syndrome associated with deletion of chromosome 20 and mutations in TET2, DNMT3A, and U2AF1.

Ann Hematol 2021 Aug 6;100(8):2111-2112. Epub 2021 Jan 6.

Department of Internal Medicine 1, Hospital of the Brothers of St. John of God, Graz, Austria.

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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

Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.

Int J Lab Hematol 2021 02 24;43(1):5-6. Epub 2020 Nov 24.

Clinical Laboratory, Qingdao Women and Children's Hospital, Qingdao, China.

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February 2021

Homozygous Southeast Asian Ovalocytosis in five live-born neonates.

Haematologica 2021 06 1;106(6):1758-1761. Epub 2021 Jun 1.

Cluster of Regenerative Medicine, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Penang.

Not available. Read More

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Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.

J Clin Endocrinol Metab 2020 12;105(12)

Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.

Context: Glycated hemoglobin A1c (HbA1c) level is used to screen and diagnose diabetes. Genetic determinants of HbA1c can vary across populations and many of the genetic variants influencing HbA1c level were specific to populations.

Objective: To discover genetic variants associated with HbA1c level in nondiabetic Malay individuals. Read More

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December 2020

Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses.

J Pediatr Hematol Oncol 2021 04;43(3):e341-e345

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences.

Objectives: Southeast Asian ovalocytosis (SAO) is an inherited red blood cell (RBC) membrane disorder, whereas hemoglobinopathies are inherited globin gene disorders. In an area where both diseases are prevalent, the interaction between them resulting in variable hematologic parameters can be encountered. However, little is known about the genetic interaction of SAO and thalassemia. Read More

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A novel p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.

Hematology 2020 Dec;25(1):321-326

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

Hereditary elliptocytosis (HE) is inherited in an autosomal dominant fashion, and the majority of HE-associated defects occur due to qualitative and quantitative defects in the RBC membrane skeleton proteins α-spectrin, β-spectrin, or protein 4.1R. The complex gene encodes a diverse family of protein 4. Read More

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December 2020

A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease.

BMC Nephrol 2020 08 5;21(1):327. Epub 2020 Aug 5.

Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Anuradhapura, Sri Lanka.

Background: Familial distal renal tubular acidosis (dRTA) associated with mutations of solute carrier family 4 membrane - 1 (SLC4A1) gene could co-exist with red cell membrane abnormality, Southeast Asian ovalocytosis (SAO). Although this association is well described in Southeast Asian countries, it is less frequently found in Sri Lanka.

Case Presentation: We describe six patients who had dRTA co-existing with SAO. Read More

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Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.

Biomolecules 2020 07 29;10(8). Epub 2020 Jul 29.

CELL Unit & PICT imaging Platform, de Duve Institute, UCLouvain, 1200 Brussels, Belgium.

Red blood cell (RBC) deformability is altered in inherited RBC disorders but the mechanism behind this is poorly understood. Here, we explored the molecular, biophysical, morphological, and functional consequences of α-spectrin mutations in a patient with hereditary elliptocytosis (pEl) almost exclusively expressing the Pro260 variant of SPTA1 and her mother (pElm), heterozygous for this mutation. At the molecular level, the pEI RBC proteome was globally preserved but spectrin density at cell edges was increased. Read More

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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

The spectrin-based membrane skeleton is asymmetric and remodels during neural development in .

J Cell Sci 2020 08 5;133(15). Epub 2020 Aug 5.

Tsinghua-Peking Center for Life Sciences, Beijing Frontier Research Center for Biological Structure, McGovern Institute for Brain Research, School of Life Sciences and MOE Key Laboratory for Protein Science, Tsinghua University, Beijing 100084, China

Perturbation of spectrin-based membrane mechanics causes hereditary elliptocytosis and spinocerebellar ataxia, but the underlying cellular basis of pathogenesis remains unclear. Here, we introduced conserved disease-associated spectrin mutations into the genome and studied the contribution of spectrin to neuronal migration and dendrite formation in developing larvae. The loss of spectrin resulted in ectopic actin polymerization outside of the existing front and secondary membrane protrusions, leading to defective neuronal positioning and dendrite morphology in adult animals. Read More

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Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.

Chem Commun (Camb) 2020 Jul 18;56(55):7557-7560. Epub 2020 Jun 18.

Department of Chemistry -"Sapienza" University of Rome, P.le A.Moro 5, 00185 Rome, Italy.

A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hereditary hemolytic anemias. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia, thalassemia, hereditary spherocytosis and hereditary elliptocytosis in a single analysis of a few microliters of non-pretreated whole blood. The thermogravimetric profile of blood from patients affected by such disorders was found to be characteristic of a specific anemic status or a disorder due to membrane defects. Read More

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Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics.

Analyst 2020 Jul 1;145(13):4452-4456. Epub 2020 Jun 1.

Department of Chemistry -"Sapienza" University of Rome, p.le A. Moro 5, 00185 Rome, Italy.

Systematic screening for congenital erythrocyte disorders is not a common practice, due to a lack in the accuracy of the methods and to the costs of the analyses. As a consequence, the diagnosis is usually made when a severe complication occurs. This study introduces an innovative method to perform the screening of a hereditary disease characterized by erythrocyte membrane defects such as hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). Read More

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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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