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