Hereditary spherocytosis genetic and rare diseases. The abnormal erythrocytes are sphereshaped spherocytosis rather. Hereditary elliptocytosis an overview sciencedirect topics. Mcl red cell membrane disorders information mc1235192. Hereditary spherocytosis hs is a common membrane disorder that can be. Most patients are asymptomatic while those with the more severe forms of he exhibit significant hemolytic anemia.
Hemolytic anaemia classification gmch hemolytic anaemia classification. Hereditary spherocytosis is a condition that affects red blood cells. Hereditary spherocytosis sphere hereditary elliptocytosis ellipse, elongated forms hereditary pyropoikilocytosisbizarre red cell forms normal red blood celldiscoid, with membrane flexibility hereditary disorders of red cell cytoskeleton. Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell rbc membrane disorders that can cause a mild hemolytic anemia. Blueprint genetics red blood cell membrane disorder panel is ideal for patients with a clinical suspicion of elliptocytosis, hereditary spherocytosis or stomatocytosis. An investigation has been carried out to determine the most likely means whereby the membrane of the human red blood cell is able to markedly reduce its. The disease can be mild and go unrecognised in some people. Hereditary elliptocytosis genetic and rare diseases. Chapter 43 hereditary spherocytosis, elliptocytosis, and related disorders williams hematology chapter 43 hereditary spherocytosis, elliptocytosis, and related disorders patrick g. Spherocytes have impaired flexibility making it difficult for red blood cells to transverse narrow capillaries. Structure and stability of hereditary spherocytosis mutants of the cytosolic domain of the erythrocyte anion exchanger 1 protein. Hereditary elliptocytosis is a rare hereditary congenital disease in which the shape of red blood cell is abnormal.
Some people with hs may be offered surgery to remove their spleen. Splenectomy, after appropriate vaccination, is the only specific treatment for hereditary spherocytosis or hereditary elliptocytosis but is rarely needed. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes. 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. Most patients have abnormalities in spectrin, but a few have abnormalities in protein 4. In hereditary spherocytosis hs and hereditary elliptocytosis he, deficiencies of membrane proteins, in addition to those encoded by the mutant gene, occur. Genetic defects in the red cell membrane or its skeleton cause congenital hemolytic disorders or inherited abnormalities in red cell morphology such as hereditary elliptocytosis and hereditary spherocytosis. University college hospital hereditary spherocytosis. Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. The membrane defect is caused by abnormalities of either spectrin or glycophorin c. Abnormalities in these moieties result in red blood cell membrane disorders. Hereditary spherocytosis hs, also known as minkowskichauffard disease, is the most common form of hemolytic anemia due to red blood cell membrane defects. Red blood cells contain haemoglobin that transports oxygen around the body. Natural history of hereditary spherocytosis during the first year of life.
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. Gallagher bertil glader this chapter focuses on hemolytic disorders and abnormalities of red blood cell rbc shape resulting from alterations of the erythrocyte membrane. It is caused by loss of gene due to mutation on chromosome 17. The red cell membrane disorders include hereditary spherocytosis, hereditary elliptocytosis, hereditary ovalocytosis and hereditary stomatocytosis. The coincidence of familial mediterranean fever and hypereosinophilia in a patient with hereditary elliptocytosis. Hereditary elliptocytosis is a heterogeneous group of autosomal dominant defects that, as with spherocytosis, result in an abnormal rbc cytoskeleton. 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. The disease usually is inherited as an autosomal dominant trait.
Mutations of 5 proteins connect cytoske leton of red cell to red cell membrane. Hereditary elliptocytosis he is a heterogeneous group of congenital red cell disorders characterized by ellipsoidally shaped cells. Hereditary spherocytosis treatment algorithm bmj best. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. The functional red cell membrane is composed of a cholesterol and phospholipid bilayer anchored by integral proteins to an elastic cytoskeletal network. Hereditary spherocytosis and hereditary elliptocytosis. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrinbased membrane skeleton is responsible for the unique features. Hereditary spherocytosis, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane patrick g. Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resultingfrommutationsingenesencodingvariousredcellmembraneandskeletalproteins. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. People with this condition typically experience a shortage of red blood cells anemia, yellowing of the eyes and skin jaundice, and an enlarged spleen splenomegaly. Hs is a condition where red blood cells lose their hallmark biconcave disc shape leading to formation of spherocytes. Hereditary spherocytosis, hereditary elliptocytosis, and.
Guidelines on hereditary spherocytosis hs published in 2004 bolton. Hereditary hematological disorders red cell enzyme disorders. Park j, jeong dc, yoo j, jang w, chae h, kim j, et al. Hereditary elliptocytosis and hereditary pyropoikilocytosis. Hereditary pyropoikilocytosis is a rare and severe form of elliptocytosis that affects black people. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Hereditary spherocytosis hs, also known as minkowskichauffard disease, affects 1 in 2,000 individuals. Hereditary elliptocytosis and spherocytosis are hereditary, autosomal dominant anemias.
Hereditary elliptocytosis and hereditary pyropoikilocytosis what every physician needs to know about hereditary elliptocytosis and hereditary pyropoikilocytosis. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. Test spherocytosiselliptocytosis panel preventiongenetics. 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. Hereditary spherocytosis genetics home reference nih. Hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Maggs et al, 2004 are here replaced to reflect changes in current opinion on the surgical management, particularly the indications for concomitant splenectomy with cholecystectomy in children with mild hs, and concomitant cholecystectomy with splenectomy in those with asymptomatic gallstones.
Hereditary elliptocytosis blood american society of. Hereditary spherocytosis, elliptocytosis, and related. Ema test for hereditary spherocytosis reference 2014. Guidelines for the diagnosis and management of hereditary. Hereditary spherocytosis hs is the most common inherited anemia of persons of northern european descent. Hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. The severity of resultant hemolysis is related to the type and amount of membrane disruption.
Red cell membrane disorders information t706 2018 mayo foundation for medical education and research mc1235192rev1018. This is of special concern in pregnant women who carry the gene and may transfer it to their offspring. As an example, in adults with hereditary spherocytosis, the bone marrow can increase its output of erythrocytes sixto eightfold. Routine highperformance liquid chromatography for a hemoglobinopathy was normal. These interactions form the shape, deformability, and proper ion balance of the cell. An inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. When hs is diagnosed early, up to 76% of affected newborns require one or more transfusions during the first 6 to 12 months of life, despite often having normal hb values immediately following birth. Forget hereditary spherocytosis definition and history etiology and pathogenesis clinical features laboratory features differential diagnosis therapy and prognosis hereditary elliptocytosis. In others there may be severe anaemia requiring regular blood transfusions. Hereditary spherocytosis differentials bmj best practice. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.
It is the most common form of inherited hemolytic anemia in the us and northern europe. It is characterized by hemolysis of variable intensity, spherocytosis, and increased osmotic fragility of red blood cells. Mutational characteristics of ank1 and sptb genes in hereditary spherocytosis. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. Hereditary elliptocytosis is a genetic disorder in which there are abnormalities of the red cell cytoskeleton. Hereditary elliptocytosis is caused by a genetic change in either the epb41, spta1, or sptb gene, and is inherited in an autosomal dominant pattern. Hereditary spherocytosis, elliptocytosis, and other red. Hereditary spherocytosis hs is an inherited condition of red blood cells.
Hereditary elliptocytosis and spherocytosis net health book. Hereditary spherocytosis is the predominant cause of spherocytosis, and is caused by several genetic mutations that lead to membrane abnormalities of red blood cells. Hereditary spherocytosis hereditary elliptocytosis hereditary pyropoikilocytosis reasons for testing hemolytic anemia lifelong anemia. Mechanics of diseased red blood cells in human spleen and. The major emphasis is on the hereditary spherocytosis hs and hereditary. Hereditary spherocytosis, hereditary elliptocytosis. It was translated into english by the canadian agency for drugs and. All the cells in our body have a surface membrane a layer that controls the movement of substances in and out of the cell. Hereditary elliptocytosis he encompasses a heterogeneous group of red blood cell membrane disorders caused by mutations affecting the erythrocyte membranes and cytoskeletal proteins. Breaking down the breakdown understanding pediatric. This usually helps the condition, but increases their risk of. 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 blood cells.