Some babies with hereditary spherocystosis can have jaundice, often at birth. 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. Gallagher, mdc newborn infants who have hereditary spherocytosis hs can develop anemia abstract and hyperbilirubinemia. Hereditary spherocytosis hs is the most common cause of nonimmune he. Ppt hereditary spherocytosis powerpoint presentation. Almost always, the abnormal gene that causes hereditary spherocytosis is passed down from parents to children. Royal free london, and luton and dunstable nhs foundation trust joint red cell unit. It happens because of a problem with the red blood cells rbcs. Spherocytosis is the presence in the blood of spherocytes, i. Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell. Sep 11, 2012 about 75% of cases of hereditary spherocytosis are inherited in an autosomal dominant manner. It is the most common form of inherited hemolytic anemia in the us and northern europe. This usually helps the condition, but increases their risk of. Hereditary spherocytosis diagnosis, surgical treatment.
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 severity of resultant hemolysis is related to the type and amount of membrane disruption. Dec 19, 2017 hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Hereditary spherocytosis hs is an inherited condition of red blood cells. About 75% of cases of hereditary spherocytosis are inherited in an autosomal dominant manner.
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, elliptocytosis, and other red. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Here we report a 33yearsold woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the c282y mutation of the hfe gene. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape.
Hereditary spherocytosis genetic and rare diseases. Hereditary spherocytosis is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia. The osmotically fragile spherocytes are selectively. Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. The surgical management of hereditary spherocytosis presumed, historically, total splenectomy. Ema test for hereditary spherocytosis reference 2014. Hereditary spherocytosis seattle childrens hospital. If you have problems viewing pdf files, download the latest version of adobe reader.
Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis diagnosis, surgical treatment and outcomes. They are spherocytic in shape appearing small and deeply stained on blood smears and have osmotic fragility. University college hospital hereditary spherocytosis. Hs is linked to a defect in a 28 kd rbc membrane protein management splenectomy. Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Old and new insights into the diagnosis of hereditary. Therefore, a negative direct combs test, positive osmotic fragility test, a blood smear showing spherocytes, and a raised reticulocyte count fig. Bcsh guidelines for the diagnosis and management of hereditary. Some people with hs may be offered surgery to remove their spleen. Hereditary spherocytosis is an inherited condition related to rbc destruction. Hereditary spherocytosis may be caused by changes mutations in any of several genes. The disease can be mild and go unrecognised in some people.
When hereditary spherocytosis is suspected, a normal ema test result can quickly rule out an. Guidelines for the diagnosis and management of hereditary spherocytosis 2011 update paula h. To access free multiple choice questions on this topic, click here. Hereditary spherocytosis is caused by changes mutations in 1 or more genes that affect the membranes of red blood cells. Open heart operation in patients suffering from hereditary.
Hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. The disease usually is inherited as an autosomal dominant trait. Hereditary spherocytosis hs is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. Hereditary spherocytosisdefects in proteins that connect.
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptomfree carriers to severe hemolysis characterized by. These genes give the body instructions to make proteins that exist on the membranes of red blood cells. Most children have mild disease with little interference with lifestyle. The severity of the disorder is related to the type and amount of membrane disruption, which is genetically determined. Hereditary spherocytosis hs is the most prevalent cause of hemolytic. Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. Hereditary spherocytosis hs is characterized by the morphological transformation of erythrocytes into a spherical shape due to a hereditary defect in cell membrane proteins ghosts associated. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes.
In this condition, the red cells are more rigid and fragile than normal. Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of. A pediatrician s practical guide to diagnosing and. Hereditary spherocytosis, elliptocytosis, and other red cell. Hereditary spherocytosis genetics home reference nih. Clinical severity is variable with most patients having a wellcompensated haemolytic anaemia. This renders the erythrocytes susceptible to phagocytosis in the spleen at an early age. Spherocytosis ask hematologist understand hematology. View hereditary spherocytosis research papers on academia. This means that having a change mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition. Hereditary spherocytosis and elliptocytosis are the two most. Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of sphericalshaped erythrocytes spherocytes on the peripheral blood smear.
A pediatricians practical guide to diagnosing and treating hereditary spherocytosis in neonates robert d. Clinical presentation ranges from mild hs, which is generally asymptomatic, to. All the cells in our body have a surface membrane a layer that controls the movement of substances in and out of the cell. 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. Spherocytosis is one of the most common inherited hemolytic anemias. Morphologically, spherocytes are rounded cells that have lost the ability to change shape. Doctors have several ways to test for spherocytosis, such as blood tests and checking the spleen. Guidelines for the diagnosis and management of hereditary spherocytosis. Spherocytosis definition of spherocytosis by medical. 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. 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.
Guidelines for the diagnosis and management of hereditary. Instead of being shaped like a disk, the cells are round like a sphere. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et al 2004 are here replaced to reflect changes in current opinion on the surgical. It was translated into english by the canadian agency for drugs and. Natural cure for hereditary spherocytosis and alternative. Hereditary spherocytosis hs belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency 1,2. Chasis, hereditary spherocytosis and hereditary elliptocytosis. Some increase the flexibility of cells so they can easily travel from larger blood vessels to.
Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Hereditary spherocytosis hs is a heterogeneous group of disorders. In some cases, an affected person inherits the mutated gene from an affected parent. Hereditary spherocytosis is a condition characterized by hemolytic anemia. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal.
Due to the hereditary nature of spherocytosis, parents with a family history should have their children tested. 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. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Distinguished from hereditary spherocytosis by a positive direct coombs anti. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et. Mar 09, 2018 hereditary spherocytosis hs is an inherited condition of red blood cells. Synonyms for spherocytosis, hereditary, type 1 in free thesaurus.
The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. Genotypephenotype correlation in hereditary spherocytosis. Mild hs can be difficult to identify because individuals may have. Hereditary spherocytosis american academy of pediatrics. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. A pediatricians practical guide to diagnosing and treating. Hereditary spherocytosis symptoms, diagnosis and treatment. Hereditary spherocytosis hs is a heterogeneous disorder in which abnormalities of red blood cell structural proteins lead to loss of erythrocyte membrane surface area, resulting in sphericalshaped, hyperdense, poorly deformable red blood cells with a shortened life span. Langer,2 achille iolascon,3 paul tittensor4 and mayjean king5 1university of manchester, manchester, uk, 2hospital for sick children, university of toronto, toronto, canada, 3university federico ii of naples, naples, italy, 4patient representative, crewe, cheshire, and. Boltonmaggs ph, langer jc, iolascon a, tittensor p, king mj, general haematology task force of the british committee for standards in haematology. Hereditary spherocytosis statpearls ncbi bookshelf. Holden, frcs department of cardiothoracic surgery, freeman hospital, newcastleupontyne, united kingdom hereditary spherocytosis is a clinically heterogeneous.
Hereditary spherocytosis is a condition that affects red blood cells. Open heart operation in patients suffering from hereditary spherocytosis nasr l. If you need a large print, audio, braille or translated copy of this. 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. Red blood cells contain haemoglobin that transports oxygen around the body. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. The morphologic hallmark of hs is the microspherocyte, which is caused by loss of rbc membrane surface area and has abnormal osmotic fragility in vitro.
People usually inherit hereditary spherocytosis from their parents. Hereditary spherocytosis knowledge for medical students. However, in our presented case, there were no suggestive features, such as fragmented rbc, in favour of microangiopathy. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Pubmed journal articles for hereditary spherocytosis were found in prime pubmed. Know the causes, symptoms, treatment and diagnosis of hereditary spherocytosis.
Flow cytometric test with eosin5maleimide for a diagnosis. Hereditary spherocytosis cincinnati childrens hospital. An inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. Ppt hereditary spherocytosis powerpoint presentation free. Hereditary spherocytosis for parents nemours kidshealth. Hereditary spherocytosis is the predominant cause of spherocytosis, and is caused by several genetic mutations that lead to membrane abnormalities of red blood cells. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins.
In all cases individual patient circumstances may dictate an alternative approach. Prime pubmed hereditary spherocytosis journal articles from. Usually, 1 parent has the disorder and there is a 50% chance of passing it on in each pregnancy. Hereditary spherocytosis hs is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. However, total splenectomy exposes the patient to a life long risk of. 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. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. The clinical severity of hs varies from symptomfree carrier to severe. Hereditary spherocytosis defects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. This condition is the most common cause of inherited anemia in that population. Hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Red blood cells contain haemoglobin that transports oxygen around the. Spherocytosis, hereditary definition of spherocytosis.
Guidelines for the diagnosis and management of hereditary spherocytosis 2011 update. Hereditary spherocytosis 1 hereditary spherocytosis. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. Among 50 pregnancies in 23 women with spherocytosis, maternal complications were infrequent except for anemia, and perinatal outcomes were generally good. Hereditary spherocytosis hs is the most common congenital hemolytic disorder among individuals of northern european descent. Spherocytosis, hereditary, type 1 synonyms, spherocytosis. Hereditary spherocytosis hereditary spherocytosis hs known as well as the minkowski chauffard disease is the most common inherited red cell membrane disorder with one case out of 20003000 individuals, and probably even higher prevalence due to underdiagnosis of minor or moderate forms of hs table 1. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. Hereditary spherocytosis is an inherited blood disorder. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. Hereditary spherocytosis type 5, which has been observed predominantly in japanese individuals, is an autosomal recessive disorder that results in a hemolytic anemia associated with abnormally shaped, osmotically fragile red blood cells bouhassira et al.
The clinical severity of hs varies from symptom free carrier to severe haemolysis. Recognize the primary clinical features of hereditary spherocytosis hs. Hereditary spherocytosis diagnosis, surgical treatment and. Hereditary spherocytosis occurs in 1 in 2,000 individuals of northern european ancestry. Professor of pediatrics, section of hematologyoncology, medical college of georgia, augusta, ga after completing this article, readers should be able to. In most cases, it is an autosomal dominant disease that is caused by red blood cell membrane protein defects, which render the rbcs more vulnerable to osmotic stress and hemolysis. 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. The condition is dominantly inherited in 75% of people. Hereditary spherocytosis hs is the most common red cell membrane disorder.
754 697 446 7 185 985 632 680 1249 1011 535 1317 1139 1260 1205 1410 1566 1497 1168 1453 1256 933 275 1176 643 1334 281 52 1032 1393 1641 184 294 1055 243 711 584 379 660 768 971 570 914 253 59 1077 823 102 998