Hereditary spherocytosis diagnosis, surgical treatment and outcomes. Hereditary spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave dis. Mild hs can be difficult to identify because individuals may have. Most children have mild disease with little interference with lifestyle. Hereditary spherocytosis occurs in 1 in 2,000 individuals of northern european ancestry. In others there may be severe anaemia requiring regular blood transfusions. Hereditary spherocytosis hs belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency 1,2. Hereditary spherocytosis hs is an inherited red blood cell rbc membrane disorder resulted from deficiencies of cytoskeletal membrane protein involving in the vertical connection between the phospholipid bilayer and structural proteins of the cell membrane. Hereditary spherocytosis seattle childrens hospital.
This condition is the most common cause of inherited anemia in that population. Hereditary spherocytosis 1 hereditary spherocytosis. North central london haemoglobinopathy network jointly with whittington health, royal free london, and luton and dunstable nhs foundation trust joint red cell unit. The surgical management of hereditary spherocytosis presumed, historically, total splenectomy. In all cases individual patient circumstances may dictate an alternative approach. Ppt hereditary spherocytosis powerpoint presentation free. Hereditary spherocytosis archives free medical books. Sep 15, 2016 can soliris be used to treat hereditary spherocytosis. Spherocytes are found in all hemolytic anemias to some degree. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped.
Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Hereditary spherocytosis diagnosis, surgical treatment and. It is a result of heterogeneous alterations in one of five genes that encode red blood cell rbc membrane proteins involved in vertical associations that link the membrane cytoskeleton to the lipid bilayer. View hereditary spherocytosis research papers on academia. This renders the erythrocytes susceptible to phagocytosis in the spleen at an early age. The destruction of red blood cells in this condition is a result of mishapen and fragile cell membranes. 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 spherocytosisdefects in proteins that connect. To access free multiple choice questions on this topic, click here. Hereditary spherocytosis defects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. Chasis, hereditary spherocytosis and hereditary elliptocytosis. Professor of pediatrics, section of hematologyoncology, medical college of georgia, augusta, ga after completing this article, readers should be able to.
It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. It is the most common inherited red blood cell rbc plasma membrane disorder in northern europe and northern america, and is diagnosed in 1 in every 2000 individuals. It is caused by a defect in the erythrocyte membrane, which leads to an increased permeability for sodium and water, giving the erythrocyte its typical spherical form. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. Dec 19, 2017 hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. The disease usually is inherited as an autosomal dominant trait. Hereditary spherocytosis is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia. Among 50 pregnancies in 23 women with spherocytosis, maternal complications were infrequent except for anemia, and perinatal outcomes were generally good.
Mar 09, 2018 hereditary spherocytosis hs is an inherited condition of red blood cells. This article cites 7 articles, 2 of which you can access for free at. The clinical severity of hs varies from symptom free carrier to severe haemolysis. 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. Open heart operation in patients suffering from hereditary. Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. Some people with hs may be offered surgery to remove their spleen. Hereditary spherocytosis refers to a group of heterogeneous inherited anaemias that are characterised by the presence of sphericalshaped erythrocytes spherocytes on the peripheral blood smear. Hereditary spherocytosis wikimili, the free encyclopedia. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et al 2004 are here replaced to reflect changes in current opinion on the surgical.
Guidelines for the diagnosis and management of hereditary spherocytosis. Currently, we are not aware of any benefits of soliris for treating hereditary spherocytosis. Hereditary spherocytosis hs is the most common cause of nonimmune he. Hereditary spherocytosis support group for families and friends of children and adults with spherocytosis.
The spherocytes are taken out of circulation and sent to the spleen to be destroyed hemolysis. Old and new insights into the diagnosis of hereditary. The gene mutations that cause hereditary spherocytosis cause red blood cells to have an abnormal, spherical shape with decreased flexibility. Hereditary spherocytosis, elliptocytosis, and other red cell. Our support group is here to provide information, encouragement and. Due to the hereditary nature of spherocytosis, parents with a family history should have their children tested. Dec 16, 2018 hereditary spherocytosis hs is a familial hemolytic disorder associated with a variety of mutations that lead to defects in red blood cell rbc membrane proteins. Structural or functional disorders of the cytoskeletal proteins result in the formation of spherocytes, which lack the strength, durability, and flexibility to withstand the stresses of the circulation. Hereditary spherocytosis genetic and rare diseases. Hereditary spherocytosis statpearls ncbi bookshelf. Know the causes, symptoms, treatment and diagnosis of hereditary spherocytosis. The cause of hereditary spherocytosis is one of the topics tested in this quizworksheet combo. The clinical severity of hs varies from symptomfree carrier to severe. If you need a large print, audio, braille or translated copy of this booklet, please contact us on 020 3447 9638.
Hereditary spherocytosis american academy of pediatrics. Hereditary spherocytosis is caused by changes mutations in 1 or more genes that affect the membranes of red blood cells. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of. Natural cure for hereditary spherocytosis and alternative. Recognize the primary clinical features of hereditary spherocytosis hs. Hs is linked to a defect in a 28 kd rbc membrane protein management splenectomy. Hereditary spherocytosis is the predominant cause of spherocytosis, and is caused by several genetic mutations that lead to membrane abnormalities of red blood cells. Guidelines for the diagnosis and management of hereditary. This usually helps the condition, but increases their risk of. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. Bcsh guidelines for the diagnosis and management of hereditary.
Spherocytosis is the presence in the blood of spherocytes, i. University college hospital hereditary spherocytosis uclh. Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptomfree carriers to severe hemolysis characterized by. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. Some babies with hereditary spherocystosis can have jaundice, often at birth. Hereditary spherocytosis is a condition that affects red blood cells. Hereditary spherocytosis hs is the most common red cell membrane disorder. Red blood cells contain haemoglobin that transports oxygen around the body. Hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. Hereditary spherocytosis and elliptocytosis are the two most. Hereditary spherocytosisdefects in proteins that connect the.
However, total splenectomy exposes the patient to a life long risk of. Hereditary spherocytosis cincinnati childrens hospital. Learn vocabulary, terms, and more with flashcards, games, and other study tools. The usual shape of a red blood cell is disc like and flat whereas in hereditary spherocytosis the red blood cells become spherical in shape. Hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Aug 28, 2019 hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Doctors have several ways to test for spherocytosis, such as blood tests and checking the spleen.
Almost always, the abnormal gene that causes hereditary spherocytosis is passed down from parents to children. Hereditary spherocytosis, congenital blood disorder characterized by an enlarged spleen, spherical rather than diskshaped red blood cells of variable size and increased fragility of cell membrane, and a chronic, mild hemolytic anemia punctuated by episodes of severe aplastic anemia failure of. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. 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. Usually, 1 parent has the disorder and there is a 50% chance of passing it on in each pregnancy. The misshapen red blood cells are called spherocytes. The disease can be mild and go unrecognised in some people.
Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et. Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from. A pediatricians practical guide to diagnosing and treating. Hereditary spherocytosis genetics home reference nih.
Most newborns with hereditary spherocytosis have severe anemia. Hereditary spherocytosis hs is the most prevalent cause of hemolytic. Hereditary spherocytosis is a clinically heterogeneous, genetically determined red blood cell membrane disorder resulting in hemolytic anemia. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Flow cytometric test with eosin5maleimide for a diagnosis. Hereditary spherocytosis definition hereditary spherocytosis is a geneticallytransmitted form of spherocytosis, an autohemolytic anemia marked by the production of red blood cells that are sphereshaped rather than donutshaped, and therefore more prone to hemolysis. Spherocytosis is one of the most common inherited hemolytic anemias. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required.
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