Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell rbc membrane disorders that can cause a mild hemolytic anemia. Elliptocytosis, hereditary and variants springerlink. An inherited blood disorder in which a large number of red blood cells have an elliptical morphology. These disorders are clinically, genetically, and biochemically heterogeneous. Mutations of 5 proteins connect cytoske leton of red cell to red cell membrane spectrin composed of alpha, beta heterodimers.
Spectrin isolated from these red blood cells is also heatsensitive. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins. 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. This anomaly occurs in about 1 in every 2000 births.
Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. Pdf analysis of hereditary elliptocytosis with decreased. Elliptocytosis is a hereditary disorder of the red blood cells rbcs. Hereditary spherocytosis and hereditary elliptocytosis. Hereditary elliptocytosis he occurs due to a defect in the red cell membrane proteins. Analysis of hereditary elliptocytosis with decreased. 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. The sensitivity of nacl osmotic fragility tests, commonly considered the gold standard for the diagnosis of hereditary spherocytosis, was 68% on fresh blood and 81% on incubated blood, and further. Stevenson, in averys diseases of the newborn eighth edition, 2005. Individuals of all races and ethnic groups can be at risk. Hereditary elliptocytosis definition hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Disease in a dish approach could aid huntingtons disease discovery date. It is an infrequent but welldefined cause of hemolytic. Association of hereditary elliptocytosis and gilberts.
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. Elliptocytosis, hereditary definition of elliptocytosis. Release 42 published 17 september 2018 pdf 17 september 2018 publisher. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. Notice that the cells vary in shape from slightly oval to cigarshaped. Hemolytic anemia in these disorders ranges from absent to lifethreatening.
Elliptocytosis affects about 1 in every 2, people of northern european heritage. Forget hereditary spherocytosis definition and history etiology and pathogenesis clinical features laboratory features differential. However, we have also detailed caveats that must be considered in such experiments using exogenous lipids or proteins, in particular with reference to anionic lipids 19. Hereditary elliptocytosis is common among individuals of southeast asian descent. The function of elliptocytes appear to be unaffected in most cases. Congenital erythrocyte disorder resulting in various clinical syndromes. Alternative names elliptocytosis hereditary causes. Elliptocytosis is frequently harmless, especially when fewer than 15% of red blood cells are ovalshaped. Hereditary elliptocytosis is a heritable defect of erythrocytes red blood cells that causes congenital hemolytic anemia. Pyropoikilocytosis hereditary genetic and rare diseases. 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. Hereditary elliptocytosis is a heterogeneous group of autosomal dominant defects that, as with spherocytosis, result in an abnormal rbc cytoskeleton. This is of special concern in pregnant women who carry the gene and may transfer it to their offspring.
Hereditary elliptocytosis he is a group of disorders of the red blood cell rbc membrane that are characterized by ellipticalshaped erythrocytes elliptocytes. Reliability of ema binding test in the diagnosis of. The severity of hemolysis in common hereditary elliptocytosis varies not only among different kindreds but also within given families. We strongly recommend that you talk with a trusted. It is similar to other blood conditions such as hereditary spherocytosis and hereditary ovalocystosis. Chapter 43 hereditary spherocytosis, elliptocytosis, and related disorders williams hematology chapter 43 hereditary spherocytosis, elliptocytosis, and related disorders patrick g. Hereditary elliptocytosis is caused by a genetic change in either. An inherited condition in which the red blood cells are oval or elliptical. Uk blood transfusion and tissue transplantation services ukbts. The largest percentage of elliptocytes is seen on smears from patients with hereditary elliptocytosis.
Exocytosis is the process by which cargoladen transport vesicles move through the cytoplasm to the plasma membrane. Hereditary elliptocytosis symptoms, diagnosis, treatments. Hereditary elliptocytosis an overview sciencedirect topics. Some people with this condition have an enlarged spleen. Click export csv or ris to download the entire page or use the checkboxes to select a subset of records to download. Hereditary hematological disorders red cell enzyme disorders. Unlike normal rbcs, which repeatedly and momentarily assume an elliptical shape to negotiate through capillaries but then regain. Tumor promoterinduced mmp gene expression in a model. Elliptocytosis was first described by dresbach in the year 1904 and first recognised as a hereditary condition in the year 1932 by hunter. Disorders of the erythrocyte membrane, including hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and hereditary stomatocytosis. Results for hereditary elliptocytosis 1 5 of 5 sorted by relevance date. Hereditary elliptocytosis definition of hereditary. Learn vocabulary, terms, and more with flashcards, games, and other study tools.
Abstract hereditary elliptocytosis is a heterogeneous group of redcell disorders characterized morphologically by ovalshaped erythrocytes. Hereditary spherocytosis may be caused by changes mutations in any of several genes. 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. He is a common hemolytic red cell membrane disease with variant clinical presentations. The incidence of hereditary elliptocytosis is hard to determine because more than 90% of the people with elliptocytosis are asymptomatic hoffman, 2000. The role of ubiquitylation in receptor endocytosis and endosomal sorting kaisa haglund1, and ivan dikic2, 1centre for cancer biomedicine, faculty of medicine, university of oslo, montebello, n0310 oslo, norway and department of biochemistry, institute for cancer research, oslo university hospital, montebello, 0310 oslo, norway. Hereditary elliptocytosisellipse, elongated forms hereditary pyropoikilocytosisbizarre red cell forms normal red blood celldiscoid, with membrane flexibility hereditary disorders of red cell cytoskeleton. 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.
Loss of chloride channel clc5 impairs endocytosis by. Hereditary elliptocytosis is a disorder passed down through families in which the red blood cells are abnormally shaped. Loss of chloride channel clc5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules erik i. An inherited blood disorder where a significant number of red blood cells erythrocytes are elliptical or oval shaped rather than doughnut shaped. Some increase the flexibility of cells so they can easily travel from larger blood vessels to smaller. The membrane defect is caused by abnormalities of either spectrin or glycophorin c. Disease in a dish approach could aid huntingtons disease. Novel intercellular transportation system may have. Affected erythrocytes, called elliptocytes, have an oval or elliptical shape and are a normal finding in birds, reptiles, amphibians, fish, camels, llamas, and alpacas. Spherocytic elliptocytosis this form of hereditary elliptocytosis is seen mainly in europeans. Hereditary spherocytosis genetic and rare diseases. Molecular mechanisms underlying endocytosis and sorting. Discussion the paper presents an adolescent with biliary calculosis caused by association of a compensated clinical form of hereditary elliptocytosis and gilberts syndrome. 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.
Hereditary elliptocytosis he encompasses inherited disorders of erythrocytes that have the common feature of elliptical rbcs on morphologic examination and shortened rbc survival. Joint united kingdom uk blood transfusion and tissue transplantation services professional advisory committee. It is a heterogeneous group of disorders mainly caused. Hereditary elliptocytosis genetic and rare diseases. In this condition, the rbcs assume an elliptical shape, rather than the typical round shape. Flow cytometric test for analyzing the eosin5maleimide ema binding to red blood cells has been believed to be a specific method for diagnosing hereditary spherocytosis hs. Molecular basis of hereditary elliptocytosis due to. Patients with hereditary elliptocytosis he and southeast asian ovalocytosis are characterized by mostly asymptomatic altered red cell morphology whereas patients with spherocytic elliptocytosis have an incompletely compensated hemolytic anemia. Hereditary elliptocytosis he disease refers to a type of familial inherited hemolytic disease that is characterized by a broad spectrum of clinical. These genes give the body instructions to make proteins that exist on the membranes of red blood cells. In mouse epidermis in vivo, the tumor promoter 12otetradecanoylphorbol acetate tpa increases gene expression of matrix metalloproteinase mmp, an enzyme implicated in carcinogenesis. Novel intercellular transportation system may have potential for delivering rnai and other genebased therapeutics.