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A rare case report of hemolysis in a newborn: hereditary elliptocytosis.
Front Pediatr
October 2024
Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Introduction: Hereditary Elliptocytosis (HE) comprises clinically and genetically heterogeneous red cell membranopathies resulting from defects in the horizontal linkage between red blood cell (RBC) membrane and cytoskeletal proteins, which affect mechanical stability and deformability, thereby reducing RBC lifespan. The principal defect in HE is due to dysfunction or deficiency of RBC cytoskeletal proteins.
Case Description: This study reported a case of severe hemolysis occurring within one day after birth in a term newborn.
Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.
Gene
November 2022
Department of Haematogenetics, ICMR-National Institute of Immunohematology, 13(th) Floor, NMS Building, King Edward Memorial (K.E.M.) Hospital Campus, Parel, Mumbai 400012, India. Electronic address:
Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis (HPP) are clinically and genetically heterogeneous red cell membranopathies that result from the defects in the horizontal linkage between RBC (red blood cell) membrane and cytoskeletal proteins affecting its mechanical stability and deformability thereby reducing its lifespan. The principal defect in HE and HPP is due to dysfunction or deficiency of RBC cytoskeletal proteins namely, α-spectrin (SPTA1), β-spectrin (SPTB) and protein 4.1R (EPB41R).
View Article and Find Full Text PDFSignificant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural basis for disorders involving altered membrane structural organization (hereditary spherocytosis [HS] and hereditary elliptocytosis [HE]) and altered membrane transport function (hereditary overhydrated stomatocytosis and hereditary xerocytosis). Mutations in genes encoding membrane proteins that account for these distinct red cell phenotypes have been identified.
View Article and Find Full Text PDFThe evolutionary origins of Southeast Asian Ovalocytosis.
Infect Genet Evol
August 2015
Department of Biological Sciences, Northern Arizona University, Flagstaff, AZ 86011, USA. Electronic address:
Southeast Asian Ovalocytosis (SAO) is a common red blood cell disorder that is maintained as a balanced polymorphism in human populations. In individuals heterozygous for the SAO-causing mutation there are minimal detrimental effects and well-documented protection from severe malaria caused by Plasmodium vivax and Plasmodium falciparum; however, the SAO-causing mutation is fully lethal in utero when homozygous. The present-day high frequency of SAO in Island Southeast Asia indicates the trait is maintained by strong heterozygote advantage.
View Article and Find Full Text PDFDisorders of red cell membrane.
Br J Haematol
May 2008
Red Cell Physiology Laboratory, New York Blood Center, New York, NY 10065, USA.
Studies during the last three decades have enabled the development of detailed molecular insights into the structural basis of altered function in various inherited red cell membrane disorders. This review highlights our current understanding of molecular and mechanistic insights into various inherited red cell membrane disorders involving either altered membrane structural organization (hereditary spherocytosis, hereditary elliptocytosis and hereditary ovalocytosis) or altered membrane transport function (hereditary stomatocytosis). The molecular basis for the vast majority of cases of hereditary spherocytosis, elliptocytosis and ovalocytosis have been fully defined while little progress has been made in defining the molecular basis for hereditary stomatocytosis.
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