Spherocytosis is one of the most common inherited hemolytic anemias. Spherocytosis is the presence in the blood of spherocytes, i. Hereditary spherocytosis and hereditary elliptocytosis. Hereditary spherocytosis see online here in hereditary spherocytosis, red cells on the blood. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. This autosomal dominant or recessive trait is common, though not exclusively, among caucasians of northern european and. Spherocytosis definition of spherocytosis by medical. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life.
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 diagnosis, surgical treatment and. Dec 19, 2017 hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Hereditary spherocytosis minkowskichauffard syndrome. 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.
Guidelines for the diagnosis and management of hereditary. North central london haemoglobinopathy coordinating centre. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. The fragile red cells can break down, also known as red cell haemolysis, and cause anaemia. Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Some increase the flexibility of cells so they can easily travel from larger blood vessels to. It is reported worldwide and is the most common inherited anaemia in individuals of. Hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Spherocytosis symptoms, diagnosis, treatments and causes. This destruction of the red blood cells leads to anemia. Hereditary spherocytosis is a condition that affects red blood cells. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et al 2004 are here replaced to reflect changes in current opinion on the surgical.
Old and new insights into the diagnosis of hereditary spherocytosis. Aiha is distinguished from hereditary spherocytosis by lack of a family history and positive antiglobulin tests. Published reports indicate there may be an increased incidence of. All the following are characteristics of spherocytosis, except. Hereditary spherocytosis cincinnati childrens hospital.
Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Most children have mild disease with little interference with lifestyle. Hereditary spherocytosis north central london haemoglobinopathy coordinating centre. A 12year old girl was brought to the dhaka hospital of icddr,b with diarrhoea. Research the causes of these diseases that are similar to, or related to, spherocytosis. These genes give the body instructions to make proteins that exist on the membranes of red blood cells. Dysfunctional membrane proteins interfere with the cells ability to be flexible to. Some increase the flexibility of cells so they can easily travel from larger blood vessels to smaller. 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. Hereditary spherocytosis diagnosis, surgical treatment and outcomes. Treatment is with folic acid and, where necessary, a splenectomy. Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell rbc membrane disorders that can cause a mild hemolytic anemia. All the cells in our body have a surface membrane a layer that controls the movement of substances in and out of the cell.
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 morphologic hallmark of hs is the microspherocyte, which is caused by loss of rbc membrane surface area and has abnormal osmotic fragility in vitro. How to merge pdfs and combine pdf files adobe acrobat dc. All the cells in our body have a surface membrane, which is a layer that controls the. 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. Clinical severity is variable with most patients having a wellcompensated haemolytic anaemia. Fatigue may be a symptom of hereditary spherocytosis hs, and is often associated with anemia in affected people. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. Alloantibody hemolytic anemia, sometimes observed in recipients of organ transplants, may mimic aiha. Because the red cells are in the shape of a ball they are more fragile than normal red cells. This video nicely describes the symptoms, cause, pathogenesis, diagnosis, and treatment of hereditary spherocytosis. Paula boltonmaggs co bcsh administrator british society for haematology 100 white lion street london n1 9pf email. 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 presents as anemia and then jaundice, followed by varying degrees of paleness, fatigue, hypoxia, tachycardia, and exercise intolerance. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. Inside the mind of a master procrastinator tim urban. Hereditary spherocytosis information for patients what is hereditary spherocytosis. Bhanu prakash usmle, fmge and neet pg 43,476 views. Hereditary spherocytosisdefects in proteins that connect the. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. This free online tool allows to combine multiple pdf or image files into a single pdf document. 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. Fatigue that impacts daily life activities, or affects emotional or psychological wellbeing, should be discussed with a healthcare provider, as it may require medical treatment. Hereditary spherocytosis knowledge for medical students and. The surgical management of hereditary spherocytosis presumed, historically, total splenectomy.
Hereditary spherocytosis hs is an inherited hemolytic anemia caused by the defects on membrane proteins and characterized by icterus, anemia. Hereditary spherocytosis spherocytosis, in most cases, is an inherited disease that changes the shape of and decreases the life of red blood cells. Hereditary spherocytosis, the most frequent of the familial anemias. Hereditary spherocytosis is a heterogeneous group of diseases affecting the red blood cells erythrocytes. It is caused by a defect in the erythrocyte membrane, which leads to an increased permeability for sodium and water, giving the erythrocyte its characteristic spherical form. 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. Hereditary spherocytosisdefects in proteins that connect. Hereditary spherocytosis hs pathophysiology youtube. Clinical features range from asymptomatic to fulminant haemolytic anaemia. Hereditary spherocytosis hs is a familial haemolytic disorder with marked heterogeneity. Father died of similar illness at the age of 40 years.
A person with this condition has a 50% chance of passing this gene onto hisher children. In most cases, it is an autosomal dominant disease that is caused by red blood cell rbc membrane protein defects, which render the rbcs more vulnerable to osmotic stress and hemolysis. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Debre, paris, f75019, france b universite paris diderot, sorbonne paris cite, paris, f75010, france. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis is very common in people of northern european descent. Hereditary spherocytosis knowledge for medical students. Attempts were made to combine flow cytometric assessment with the classic osmotic fragility test 34. Her hematological parameters supported diagnosis of hereditary spherocytosis. Anaemia paleness, extreme tiredness, shortness of breath.
Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Hereditary spherocytosis may be caused by changes mutations in any of several genes. Hereditary spherocytosis womens and childrens hospital. Hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Pdf hereditary spherocytosis coexisting with gilberts. Know the causes, symptoms, treatment and diagnosis of hereditary spherocytosis. Hereditary spherocytosis is a disease involving five membrane proteins that are in close contact with each other in the red cell membrane. Incidentally, the parents provided a history of repeated episodes of pallor and jaundice since she was two and half years old. Some people with severe hs may remain anemic postsplenectomy, and may need blood transfusions during an infection. 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.
Learn vocabulary, terms, and more with flashcards, games, and other study tools. The disease usually is inherited as an autosomal dominant trait. 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 bone marrow to produce cells. Hereditary spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. This renders the erythrocytes susceptible to phagocytosis in the spleen at an early age. View hereditary spherocytosis research papers on academia. 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. The shape of a normal red blood cell looks like a disk.
Hereditary spherocytosis genetics home reference nih. Epb42related hereditary spherocytosis epb42hs is a chronic nonimmune hemolytic anemia that is usually of mild to moderate severity. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis, elliptocytosis, and other red cell. 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. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. Spherocytosis definition of spherocytosis by medical dictionary. Hereditary spherocytosis, elliptocytosis, and other red. Normal red blood cells are flexible and change shape with ease to move smoothly. Soda pdf merge tool allows you to combine pdf files in seconds.
Bilirubin levels increase when the effects of gilbert syndrome and hereditary spherocytosis for unconjugated hyperbilirubinemia merge 9 10 11. Hereditary spherocytosispathology video lectures duration. Hereditary spherocytosis genetic and rare diseases. We read with interest the recent article of bianchi et al. Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. In all cases individual patient circumstances may dictate an alternative approach. No frequent defect is found, and nearly every family has a unique mutation. Hereditary spherocytosis hs is the most common congenital hemolytic disorder among individuals of northern european descent. Hereditary spherocytosis spherocytic anemia onkopedia. Clinical presentation ranges from mild hs, which is generally asymptomatic, to.
Jan 20, 2015 clinical severity varies depending on the mutation, from asymptomatic to a lifethreatening haemolytic anaemia, but all mutations alter the cell membrane, causing loss of membrane surface area and reduced deformability of the cell. Hereditary spherocytosis diagnosis, surgical treatment. Linkage analysis of hereditary spherocytosis in four generations of. The peripheral blood film showed mild anemia with increased reticulocyte response and spherocytosis suggestive of hereditary spherocytosis. The fragile red cells can break down, also known as red cell. Hereditary spherocytosis hs or minkowskichauffard syndrome is an aberration in red blood cells due to an inherited defect in the cell membrane causing the erythrocytes to change shape, become fragile and predisposing the individual to functional hemolysis and anemia. However, splenectomy typically cures the anemia improving associated symptoms in people with hs. Guidelines for the diagnosis and management of hereditary spherocytosis. Some individuals are asymptomatic, whereas others have severe. Hereditary spherocytosis can manifest in various age groups beginning in the neonate period, in children aged 45 years, and in adults. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
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. Apr 28, 2016 we are unable to say whether it may be associated with hereditary spherocytosis, splenectomy, or gallbladder removal in any specific case. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Spherocytosis, reticulocytosis, and positive antiglobulin coombs tests are characteristic laboratory features of aiha. Caroline cromwell, michael paidas, in hematology seventh edition, 2018. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Our pdf merger allows you to quickly combine multiple pdf files into one single pdf document, in just a few clicks. Hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Guidelines for the diagnosis and management of hereditary spherocytosis the british committee for standards in haematology address for correspondence. Easily combine multiple files into one pdf document. Abunimye departments of haematology, ahmadu bello university teaching hospital, zaria, nigeria. Hereditary hematological disorders red cell enzyme disorders.
The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. However, total splenectomy exposes the patient to a life long risk of. Hereditary spherocytosis is the most common inherited hemolytic anemia among people of northern european descent see chapter 46. These abnormal red cells are then selectively retained and destroyed in the spleen, which reduces red cell life. 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. Their common features are structural membrane defects which result in an impairment of erythrocytic deformability. Hereditary spherocytosis is an inherited condition related to rbc destruction. Red blood cells contain haemoglobin that transports oxygen around the body. Pdf merge combine pdf files free tool to merge pdf online. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry.
Symptoms of hereditary spherocytosis include jaundice yellowing of the skin and whites of the eyes, enlarged spleen, gallbladder problems, and anemia. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins. 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. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. 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.
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