The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The result is that the red cell can no longer maintain its biconcave disc shape and becomes more spherocytic, a shape. Clinical, hematologic and genetic features in 28 cases, with particular reference to the osmotic and mechanical fragility of incubated erythrocytes. Glucose6phosphate dehydrogenase deficiency leads to hemolysis in the presence of oxidative stress. This means that to be affected, a person must have a mutation in both copies of the responsible gene in. Vol 372 october 18, 2008 1411 hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Hereditary spherocytosis hs is a familial haemolytic disorder with marked heterogeneity. Hereditary spherocytosis spherocytosis, in most cases, is an inherited disease that changes the shape of and decreases the life of red blood cells. Doctors may recommend that children with hereditary spherocytosis hs avoid activities that could result in blunt injuries to the abdomen. Some increase the flexibility of cells so they can easily travel from larger blood vessels to smaller. It may become manifest at any age, the majority of the patients presenting before the age of 25 years. All the cells in our body have a surface membrane a layer that controls the movement of substances in and out of the cell. Once you merge pdfs, you can send them directly to your email or download the file to our computer and view. Hereditary spherocytosis hs is an inherited condition of red blood cells.
Consumer information about hereditary spherocytosis, a condition in which a persons red blood cells are spherical in shape rather the normal concave disk shape of red blood cells. Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Hereditary spherocytosis hs is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane and classifies as a type. Most common hereditary hemol ytic disorder red cell membrane mutations of one of 5 genes chromosome 8 for cytoskeletal proteins, overall effect is spectrin deficiency severity dependantdeficiency, severity dependant on spectrin deficiencyon spectrin deficiency 200300. Hereditaryspherocytosis peteragre,md casepresentation \pm\wafikeldeiry,md a28yearoldwomanwasreferred forevaluationofanabnormalperipheral bloodsmear. Hereditary spherocytosis is an inherited condi tion characterized by anemia, jaundice, and splenomegaly. Hereditary spherocytosis hs is an inherited condition affecting red blood cells.
Open heart operation in patients suffering from hereditary. Cells are from a donor with hereditary spherocytosis. For language access assistance, contact the ncats public information officer. Hereditary spherocytosis womens and childrens hospital. Hereditary spherocytosis may be caused by changes mutations in any of several genes. Hereditary spherocytosis is very common in people of northern european descent. Hereditary spherocytosis hs is an inherited hemolytic anemia caused by the defects on membrane proteins. Hereditary spherocytosis is characterized by spherocytes, a family history, and. 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. Because the red cells are in the shape of a ball they are more fragile than normal red cells. A very useful measure is to keep close to their documents and personal. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management.
Disorders of red blood cell enzymes, membranes, and hemoglobin cause hereditary hemolytic anemias. Clinical features range from asymptomatic to fulminant haemolytic anaemia. Hereditary spherocytosis, elliptocytosis, and other red cell. Df 32 p, a noneluting red cell label, was given intravenously to 11 patients in five unrelated families 227 yr after splenectomy for typical hereditary spherocytosis. Hereditary spherocytosis is an inherited condition related to rbc destruction. In hereditary spherocytosis there is a change in the wall of the red blood cell. Know the causes, symptoms, treatment and diagnosis of hereditary spherocytosis. Pdf merge combine pdf files free tool to merge pdf online.
A person with this condition has a 50% chance of passing this gene onto hisher children. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Hereditary spherocytosis, elliptocytosis, and other red. Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Two different pathogenic gene mutations coexisted in the same. Hereditary spherocytosisdefects in proteins that connect the. A refractory chronic leg ulcer is an uncommon complication of hs, reported in fewer than two percent of. Hereditary spherocytosis is a variably inherited but usually dominant condition. Hereditary spherocytosis is a rare disease, there is no cure for hereditary spherocytosis caused by genetic defect, and thus the focus of current management is to limit the severity of the disease. Hereditary spherocytosis and elliptocytosis are the two most common inherited red. Less commonly, hereditary spherocytosis is inherited in an autosomal recessive manner.
Father died of similar illness at the age of 40 years. Hereditary spherocytosis shafqat shah and roger vega. Autosomal dominant, extravascular hemolytic anemia mc hereditary hemolytic anemia in white population rbc membrane spectrin gene defect rbcs get trapped in red pulp of spleen, undergo hemolysis. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins. Hereditary spherocytosis is a disease involving five membrane proteins that are in close contact with each other in the red cell membrane.
Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Hereditary hematological disorders red cell enzyme disorders. Get a printable copy pdf file of the complete article 1. Anemia esferocitosis hereditaria by danna flores cuadros on prezi. Hereditary spherocytosis hs was described in 1871 and the. Note the dense microspherocytes with absent central pallor. The pathological cause of hs is a genetic mutation that leads to an rbc membrane. Karniadakisa,2, and subra sureshe,2 adivision of applied mathematics, brown university, providence, ri 02912. In most individuals, the condition is mild and requires no speci. In others there may be severe anaemia requiring regular blood transfusions.
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. Hereditary spherocytosis hs is a common type of hereditary hemolytic. This remains an area of controversy however, since there is limited data demonstrating that people with hs are in fact at an increased risk for injury. The disease can be mild and go unrecognised in some people. The abnormal erythrocytes are sphereshaped spherocytosis rather. Hereditary spherocytosis statpearls ncbi bookshelf.
Hereditary spherocytosis congenital hemolytic anemia hereditary spherocytosis is a genetically determined hemolytic disorder characterized by the globular shape of the erythrocytes. Hereditary spherocytosis hs is a red blood cell disorder where the cells take on a shape of a ball or sphere instead of the normal shape of a red cell which looks like a doughnut. It is the commonest cause of inherited chronic haemolysis in northern europe and north america with a quoted incidence of 1 in 5000 births morton et al. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a. Hereditary spherocytosis is the predominant cause of spherocytosis, and is caused by several genetic mutations that lead to membrane abnormalities of red blood cells. Longterm evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Genetic counseling is recommended in families with a history of hs. Dec 19, 2017 hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Erythroid membrane protein defects in hereditary spherocytosis. Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders he li a,1, lu lu, xuejin lia, pierre a. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. Hereditary spherocytosis hs support group genetic and.
In all cases individual patient circumstances may dictate an alternative approach. Hereditary spherocytosis diagnosis, surgical treatment and outcomes. If you have problems viewing pdf files, download the latest version of adobe reader. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an. Hereditary spherocytosis a rare case report nigwekar p, shrikhande d y, niranjan b k, shah n, shukla t abstract eleven years old female child presented with severe anemia, jaundice and moderate splenomegaly. Healthy persons probably develop an erythroblastopenia when experiencing their first contact with hpv, but. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. This smear is from a patient with hereditary spherocytosis.
It is uncommon in people of african descent kline and holman 1957. The surgical management of hereditary spherocytosis presumed, historically, total splenectomy. Most children have mild disease with little interference with lifestyle. Splenomegaly, hypersplenism, and hereditary disorders with. The severity of the disorder is related to the type and amount of membrane disruption, which is genetically determined. Guidelines for the diagnosis and management of hereditary. This early destruction of blood cells occurs because the affected cells are missing two important proteins, making them vulnerable to destruction by a part of our.
The offspring of an individual affected with an autosomal dominant ad form of hereditary spherocytosis has a 50% 1 in 2 risk to inherit the same mutation in the diseasecausing gene. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. The disease usually is inherited as an autosomal dominant trait. Pmc free article anderson r, huestis rr, motulsky ag. Hereditary spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. Hereditary spherocytosis in neonates with hyperbilirubinemia. Hereditary spherocytosis see online here in hereditary spherocytosis, red cells on the blood. If a child of an affected parent with ad hereditary spherocytosis does not inherit the mutation, that child will not pass the mutation on to hisher children because it is not present in hisher genes. Enable javascript to view the expandcollapse boxes.
Guidelines for the diagnosis and management of hereditary spherocytosis 2011 br j haematol. Hereditary spherocytosis hs is a type of hemolytic anemia resulting from hereditary. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Red cell life span after splenectomy in hereditary. Case report hepatitis cinduced liver cirrhosis combined with. 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 entry has been changed to be consistent with the guideline for hereditary. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et al 2004 are here replaced to reflect changes in current opinion on the surgical. Some people with hs may be offered surgery to remove their spleen. Hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity. Hereditary spherocytosis cincinnati childrens hospital. Hereditary spherocytosis blood american society of.
Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Hereditary spherocytosis diagnosis, surgical treatment. The experiments described indicate that the spleen acts as a filter and trap and as an incubator in accelerating destruction of red corpuscles in patients with hereditary spherocytosis. Anemia healthy changes national heart, lung, and blood. Hereditary spherocytosis genetic and rare diseases. This is to reduce the risk of injury to the spleen, which is often enlarged in people with hs. North central london haemoglobinopathy coordinating centre.
Hereditary spherocytosis an overview sciencedirect topics. This destruction of the red blood cells leads to anemia. Soliris is a drug that has been fda approved to treat paroxysmal nocturnal hemoglobinuria pnh. Hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Hereditary spherocytosis american academy of pediatrics. 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 is a common hereditary disorder characterized by corpuscular hemolytic anemia of varying severity with increased red blood cell osmotic fragility and impaired. Linkage analysis of hereditary spherocytosis in four generations of. Treatment is with folic acid and, where necessary, a splenectomy. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. Hereditary spherocytosis hs is the most common red cell membrane disorder. Pnh causes the early death and impaired production of blood cells red blood cells, white blood cells, and platelets. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. The fragile red cells can break down, also known as red cell. Guidelines for the diagnosis and management of hereditary spherocytosis 2011 update paula h. On the other hand, infarction is a more common complica tion in splenomegalic patients with hematological malig nancies e. Once files have been uploaded to our system, change the order of your pdf documents. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. Red blood cells contain haemoglobin that transports oxygen around the body.
Hereditary spherocytosis is a clinically heterogeneous, genetically determined red blood cell membrane disorder resulting in hemolytic anemia. The condition is dominantly inherited in 75% of people. Mechanics of diseased red blood cells in human spleen and. Due to defective cell membrane, red cell are spherical shapes and causes early lysis of red. Suitability as a donor should be discussed with a designated medical officer. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. No frequent defect is found, and nearly every family has a unique mutation. Diagnosis of hereditary spherocytosis and secondary.
Hereditary spherocytosis genetic and rare diseases information. Blood is a vital liquid that lows through your veins and arteries. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. However, total splenectomy exposes the patient to a life long risk of. Hereditary spherocytosis is a condition that affects red blood cells. 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. Targeted patients are those in whom hereditary spherocytosis is suspected yet clinical diagnostic criteria have not been met and all other causes of hemolysis have been excluded.
Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. Hereditary spherocytosis diagnosis, surgical treatment and. 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. A deficiency of spectrin, the largest and most abundant structural protein of the erythrocyte membrane skeleton, results in the formation of spherocytes which lack the strength, durability, and. Morphologically, spherocytes are rounded red cells that have lost the ability to change shape. Yang ym, donnell c, wilborn w, goodman sr, files b, moore rb, et al. Spherocytosis is the presence in the blood of spherocytes, i. Spherocytes are found in all hemolytic anemias to some degree. The disorder is acute cases can threaten to cause hypoxia through anemia. Full text full text is available as a scanned copy of the original print version. Hereditary spherocytosis hs is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. Sep 11, 2012 the offspring of an individual affected with an autosomal dominant ad form of hereditary spherocytosis has a 50% 1 in 2 risk to inherit the same mutation in the diseasecausing gene. Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from symptomfree carriers to severe hemolysis characterized by.
Hereditary spherocytosis hs is the commonest cause of inherited haemolysis in northern europe and the usa. It is rela tively common in all races, but occurs predominantly in white people. Symptoms of hereditary spherocytosis include jaundice yellowing of the skin and whites of the eyes, enlarged spleen, gallbladder problems, and anemia. Anaemia paleness, extreme tiredness, shortness of breath. Her hematological parameters supported diagnosis of hereditary spherocytosis. What is hereditary spherocytosis hs hereditary spherocytosis is an inherited disorder that affects red blood cells. Hereditary spherocytosis north central london haemoglobinopathy coordinating centre. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first. These genes give the body instructions to make proteins that exist on the membranes of red blood cells. Hereditary spherocytosis genetics home reference nih. Hereditary spherocytosis is characterized by spherocytes, a family history, and a negative direct antiglobulin test.
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