Feb 17, 2016 a 17dayold boy was admitted because of jaundice and anemia. Hereditary spherocytosis, elliptocytosis, and other red cell. Ovalocytosis article about ovalocytosis by the free. Hereditary elliptocytosis is characterized by the presence of oval or ellipticalshaped red blood cells. Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the persons red blood cells are elliptical rather than the typical biconcave disc shape. Elliptocytosis was first described by dresbach in the year 1904 and first recognised as a hereditary condition in the year 1932 by hunter. Apr 15, 2019 hereditary elliptocytosis he refers to a group of inherited blood conditions where the red blood cells are abnormally shaped symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes jaundice.
Get a printable copy pdf file of the complete article 977k, or click on a page image below to browse page by page. It is nearly always encountered in its heterozygous form. Hereditary elliptocytosis is a condition where the rbcs in the peripheral blood is elliptical in shape. The expression of this genetic abnormality is usually limited to the incidental finding of elliptical or ovalshaped red cells in the peripheral blood. Classified by distinctive morphology on peripheral blood smear, these disorders are characterized by clinical, laboratory, and genetic heterogeneity. Hereditary elliptocytosis is caused by a genetic change in either.
Hereditary elliptocytosis information mount sinai new york. Jul 10, 2009 hereditary elliptocytosis is a genetic disorder in which there are abnormalities of the red cell cytoskeleton. Dec 30, 2011 chapter 43 hereditary spherocytosis, elliptocytosis, and related disorders williams hematology chapter 43 hereditary spherocytosis, elliptocytosis, and related disorders patrick g. Hereditary spherocytosis and hereditary elliptocytosis cause hemolytic anemia because of abnormalities in the structure of the red blood cell. Full text full text is available as a scanned copy of the original print version. Matthews, bertil glader, in averys diseases of the newborn ninth edition, 2012. Elliptocytosis affects about 1 in every 2,500 people of northern european heritage. Hereditary elliptocytosis is a genetic disorder in which there are abnormalities of the red cell cytoskeleton. Elliptocytosis article about elliptocytosis by the free. Hereditary elliptocytosis failed to regain normal shape after passage in microcirculation red cell precursors are round, elliptical with age pathogenesis is unknown perhaps skeletal reorganization after prolonged or repeated stress. Hereditary elliptocytosis symptoms, diagnosis, treatments. In this we describe the details of two cases where one patient presented with haemolytic anemia at very early age of life and the. Meaning of elliptocytosis, hereditary medical term. The severity of the disease depends on the extent of surface.
Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Elliptocytosis affects about 1 in every 2, people of northern european heritage. Mar 20, 2017 hereditary elliptocytosis is a rare hereditary congenital disease in which the shape of red blood cell is abnormal. Hereditary elliptocytosis symptoms, diagnosis, treatments and. Hereditary elliptocytosis and primary renal tubular acidosis. Hereditary spherocytosis hs, hereditary elliptocytosis he, and hereditary stomatocytosis hst are inherited red cell disorders caused by defects in various membrane proteins. Individuals of all races and ethnic groups can be at risk. Hereditary elliptocytosis he is a heterogeneous red blood cell rbc membrane disorder derived from pathogenic variations in genes encoding spectrin spta1, spectrin sptb, or protein 4. The condition is often asymptomatic but anemia can result when the abnormal red blood cells are destroyed. Hereditary elliptocytosis and spherocytosis net health book.
Forget hereditary spherocytosis definition and history etiology and pathogenesis clinical features laboratory features differential diagnosis. Pdf molecular analysis of hereditary elliptocytosis with. Primary abnormalities of the erythrocyte membrane, including the hereditary spherocytosis and hereditary elliptocytosis syndromes, are an important group of inherited hemolytic anemias. Pediatric hereditary elliptocytosis and related disorders. The primary defect in sao differs significantly from other forms of elliptocytosis in that it is a defect in the gene coding for a protein that is not directly involved in the cytoskeleton scaffolding of the cell. Harvey, in clinical biochemistry of domestic animals sixth edition, 2008.
Red cells with uniform elliptical shape come under the. Looking for online definition of elliptocytosis, hereditary in the medical dictionary. A rare red cell membrane disorder article pdf available in indian journal of hematology and blood transfusion 344. They are slightly different from each other, which can be seen under the microscope in that elliptocytosis has oval shaped red blood cells and spherocytosis has roundly shaped red. Powtoon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume. Hereditary elliptocytosis he, also known as ovalocytosis, is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. Approximately 12% of affected individuals have an uncompensated hemolytic anemia. Hereditary elliptocytosis is a common disorder of rbc shape in humans of african and mediterranean ancestry. Ovalocytosis definition of ovalocytosis by medical.
This is of special concern in pregnant women who carry the gene and may transfer it to their offspring. Hereditary elliptocytosis he, also called hereditary ovalocytosis, is a heterogeneous group of inherited red blood cell rbc disorders characterized by the presence of elongated, oval, or elliptically shaped rbcs on the peripheral blood smear. Hereditary elliptocytosis and hereditary pyropoikilocytosis. This usually helps the condition, but increases their risk of.
Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, southeast asian ovalocytosis, glucose6phosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alphathalassemia see these terms. Some people with hs may be offered surgery to remove their spleen. Hereditary elliptocytosis blood american society of. Ovalocytosis article about ovalocytosis by the free dictionary. Hereditary spherocytosis hs is an inherited condition of red blood cells. Clinical, biochemical and ultrastructural assessment of five black children from four unrelated kindreds, who had morphologic and laboratory features of hereditary. In others there may be severe anaemia requiring regular blood transfusions. Routine highperformance liquid chromatography for a hemoglobinopathy was normal.
Hereditary ovalocytosis hematology an ad condition, affecting 1. May 10, 2017 powtoon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume. However, some forms of he are more common among certain populations such as among europeans or asian populations what are the risk factors for hereditary elliptocytosis. The majority of patients with he are asymptomatic, but hpp is a severe form of he that presents with hemolytic anemia and jaundice during the infantile period. Hereditary elliptocytosis definition of hereditary. Hereditary elliptocytosis is outlined here in terms of description, signs, symptoms, lab testing, imaging studies, diagnosis, and treatment.
Hereditary pyropoikilocytosis hpp is a related and more severe group of disorders characterized by fragmented red cells and poikilocytes. The incidence of hereditary elliptocytosis is hard to determine because more than 90% of the people with elliptocytosis are asymptomatic hoffman, 2000. Newborn hereditary elliptocytosis confirmed by familial. He was born weighing 2900 g subsequent to a term gestation as the fourth child of firstdegree cousin parents. Elliptocytosis, hereditary definition of elliptocytosis. Gallagher hereditary elliptocytosis he is a common disorder of erythrocyte shape, occurring especially in individuals of african and mediterranean ancestry, presumably because elliptocytes confer some resistance to malaria. He is due to defects in either the structure or quantity of the cytoskeletal proteins responsible for maintaining the biconcave morphology of. Hereditary elliptocytosis is a rare, autosomal dominant haematological disorder1.
Mar 21, 2019 posted by by admin october 25, 2018 october 25, 2018 acquired w low reticulocytes aplastic anemia b12 deficiency folate deficiency g6pd deficiency hbc disease hereditary elliptocytosis hereditary spherocytosis immune hemolytic anemias macrocytic anemia microcytic anemia normocytic anemia paroxysmal nocturnal hemoglobinuria pyruvate kinase. It is a hemolytic anaemia due to membrane defect, which produces a broad spectrum of disease that ranges from fully compensated hemolysis to life threatening anaemia. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. If you have problems viewing pdf files, download the. A rare hereditary disease of man characterized by the presence of large numbers of oval or elliptic erythrocytes in the circulating blood explanation of ovalocytosis. Hereditary elliptocytosis genetic and rare diseases. Hereditary elliptocytosis is an autosomal dominant, clinically heterogeneous group of disorders that are caused by mutations of the rbc membrane cytoskeletal proteins usually spectrin or protein 4. Gallagher hereditary elliptocytosis he is a common disorder of erythrocyte shape, occurring especially in individuals of african and mediterranean ancestry, presumably because elliptocytes confer some resistance to. Hereditary elliptocytosis an overview sciencedirect topics. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. Hereditary elliptocytosis is a blood disorder in which a large proportion of the sufferers erythrocytes i. Hereditary elliptocytosis cleveland clinic journal of. The disease can be mild and go unrecognised in some people.
Hereditary spherocytosis, elliptocytosis, and other red. In this condition, the majority of cells have an elliptical shape. Hereditary spherocytosis and hereditary elliptocytosis. Nov 06, 2019 hereditary elliptocytosis he encompasses inherited disorders of erythrocytes that have the common feature of elliptical rbcs on morphologic examination and shortened rbc survival. Hereditary elliptocytosis and spherocytosis are hereditary, autosomal dominant anemias. Hereditary elliptocytosis he is another commonly inherited membrane disorder resulting from the assembly of a structurally dysfunctional red cell membrane that has decreased membrane mechanical stability. Mar 09, 2018 hereditary spherocytosis hs is an inherited condition of red blood cells. A number of abnormalities in redbloodcell enzymes also can lead to increased redcell destruction. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis. Usually the patients are asymptomatic and occasionally present with hemolysis. Easy understanding of hereditary elliptocytosis youtube. A rare red cell membrane disorder article pdf available in indian journal of hematology and blood transfusion 344 august 2018 with 202 reads how we measure reads. These disorders are clinically, genetically, and biochemically heterogeneous.
Hereditary elliptocytosis with hemolytic anemiaa family. Elliptocytosis ask hematologist understand hematology. Elliptocytosis definition of elliptocytosis by medical. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Hereditary elliptocytosis was first recognized as a genetically transmitted red cell abnormality in 1929. An inherited blood disorder where a significant number of red blood cells erythrocytes are elliptical or oval shaped rather than doughnut shaped. Heterozygotes present with mild clinical picture with fully compensated hemolysis whereas homozygotes and compound heterozygotes like hereditary elliptocytosis in combination with beta thalassaemia trait present with severe hemolytic anaemia due to mutual enhancement of involved genes4. Severe hereditary elliptocytosis and hereditary pyropoikilocytosis hpp in general, patients with homozygous hereditary elliptocytosis hpp have symptomatic hemolytic anemia that requires transfusion support and eventual splenectomy. Request pdf on jul 1, 2019, changseung liu and others published newborn hereditary elliptocytosis confirmed by familial genetic testing find, read and. It is hereditary haemolytic anaemia in which the red blood cell is ovalshaped.
He is a common hemolytic red cell membrane disease with variant clinical presentations. It is caused by loss of gene due to mutation on chromosome 17. It has been found among caucasians and north africans in a sporadic fashion. Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell rbc membrane disorders that can cause a mild hemolytic anemia. For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. The occurrence of elliptocytic red blood cells in all racial groups is not rare 0. Page 1 hereditary elliptocytosis hereditary elliptocytosis, or ovalocytosis, is an inherited blood disorder in which rbc is elliptical rather than the typical biconcave disc shape due to rbcmembrane defects. Hereditary elliptocytosis he encompasses inherited disorders of erythrocytes that have the common feature of elliptical rbcs on morphologic examination and shortened rbc survival. Hereditary spherocytosis genetic and rare diseases. Hereditary elliptocytosis wikimili, the free encyclopedia. Some people with this condition have an enlarged spleen.
Hereditary elliptocytosis he is a heterogeneous group of congenital red cell disorders characterized by ellipsoidally shaped cells. Hereditary elliptocytosis is common among individuals of southeast asian descent. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. There is a mechanical weakness or fragility of the rbc membrane skeleton resulting from defects in. Hereditary elliptocytosis and hereditary pyropoikilocytosis are congenital hemolytic disorders in which erythrocytes either are elongated into an oval form or are irregularly shaped see images below. Most patients have abnormalities in spectrin, but a few have abnormalities in protein 4. Hereditary elliptocytosis he is characterized by the presence of elliptical or oval erythrocytes. Hereditary elliptocytosis and hereditary pyropoikilocytosis what every physician needs to know about hereditary elliptocytosis and hereditary pyropoikilocytosis. Hereditary elliptocytosis he refers to a group of inherited blood conditions where the red blood cells are abnormally shaped symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes jaundice.
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