Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. Calcium salt and mucin act as nidus to initiate stone growth. Viscosity is dependent on the concentration of fibrinogen and other plasma proteins. A defect in intracellular glycolysis was found in cells from patients with hereditary spherocytosis. Hereditary spherocytosis associated with deletion of human. Their shape like a slightly elongated saucer helps them carry oxygen effectively. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et. 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. 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. Hereditary spherocytosis is an inherited disease that results in the formation of abnormal red blood cells with fragile cell walls which is usually transmitted as an autosomal dominant disorder. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic.
This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Hereditary spherocytosis hs is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. Morpho logically, spherocytes are rounded red cells that have lost the ability to. It is the most common form of inherited hemolytic anemia in the us and northern europe. Hereditary spherocytosis diagnosis approach bmj best. The first reported case of hereditary spherocytosis hs and glucose6 phosphate dehydrogenase deficiency in a black is presented.
Primary hemochromatosis with hereditary spherocytosis jama. There are few reports on adult openheart surgery for patients with hereditary spherocytosis. Hereditary spherocytosis and vascular function full text. In all cases individual patient circumstances may dictate an alternative approach. Hereditary spherocytosis, elliptocytosis, and other red cell. The clinical severity of hs varies from symptom free carrier to severe. Hereditary spherocytosis american academy of pediatrics. Hereditary spherocytosis is a haemolytic anaemia with shortened red blood cell lifespan, which can interfere with the methods of glycosylated haemoglobin measurement. Her hematological parameters supported diagnosis of hereditary spherocytosis.
In most individuals, the condition is mild and requires no speci. By a technique for investigating glycolysis of red cells, further insight was gained into the nature of the disturbances in metabolism associated with hereditary spherocytosis. Hereditary spherocytosis hs is a common type of hereditary hemolytic anemia, with wide heterogeneity in the. The cases of hereditary spherocytosis is found on some ethnic european groups, but the frequent source of hereditary spherocytosis cases is seen on the people of northern european origin. Anaemia, jaundice, splenomegaly, hereditary, spherocytosis. Watch the video lecture hereditary spherocytosis hs. Hereditary spherocytosis hs is a disease affecting the red blood cells membrane and belongs to the congenital hemolytic anemias. Mild hs can be difficult to identify because individuals may have normal haemoglobin and bilirubin concentrations.
Morphologically, spherocytes are rounded red cells that have lost the ability to change shape. Longer the tube, longer will be the duration of the second phase and higher will be the esr. Our support group is here to provide information, encouragement and positive support to one another. Hs is a familial hemolytic disorder with marked heterogeneity of clinical features ranging from asymptomatic condition to a fulminant hemolytic anemia. Eosin5maleimide binding to band 3 and rhrelated proteins forms the basis of a screening test for hereditary spherocytosis. A large family study of hereditary spherocytosis hs has not been reported since races classic work in 1942. Hereditary spherocytosis hs is one of the most common hereditary haemolytic anaemias1. Hereditary spherocytosis hs occurs in one in 2,500 to 5,000 persons of northern european descent 82,83 and is the most common hereditary rbc membrane defect that leads to acute hemolysis and hyperbilirubinemia in the newborn. Plasma viscosity esr increases as the plasma viscosity increases. It is the most common form of inherited haemolytic anaemia in the us and northern europe. Atypical autohemolysis in hereditary spherocytosis as a reflection of two cell populations. 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. Hereditary spherocytosis hs is an inherited hemolytic disease with a wide spectrum of phenotypic expression ranging from asymptomatic to chronic hemolysis. Pdf anaesthetic management of a case of heriditary. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Not permitted in this group foul language, bullying, spam, posting.
Hereditary spherocytosis was first described in 1871. Genotypephenotype correlation in hereditary spherocytosis. Hereditary spherocytosis is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. Doc hereditary spherocytosis a case study dara alanan. Introduction hereditary spherocytosis hs is a rare inherited red blood cell rbc membrane disorder that is characterized by spherically shaped rbcs on peripheral blood smear1, 2, 3. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. Spherocytosis most often refers to hereditary spherocytosis. The severity of resultant haemolysis is related to the type and amount of membra. Hereditary spherocytosis and polycythemia jama internal. In severe cases, the disorder may present in early childhood, but in some cases it may go unnoticed until later in adult life. This video nicely describes the symptoms, cause, pathogenesis, diagnosis, and treatment of hereditary spherocytosis. Races report lacked a description of laboratory procedures and data. Hereditary spherocytosis hs is the most common nonimmune hereditary chronic hemolytic anemia and is triggered by the impairment of the vertical interactions. During the next 15 years, the patient continued to accumulate excess iron despite.
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, elliptocytosis, and other red. Hereditary spherocytosis concise medical knowledge. Hereditary spherocytosis medical video hematopathology. Hereditary spherocytosis hs is a type of hemolytic anemia resulting from. The fragile red cells can break down, also known as red cell haemolysis, and cause anaemia.
The severity of the disorder is related to the type and amount of membrane disruption, which is genetically determined. Father died of similar illness at the age of 40 years. Hereditary spherocytosis and hereditary elliptocytosis. History, clinical examination, and laboratory findings of the girl and her family members suggested a case of hereditary spherocytosis. Hereditary spherocytosis hs is the most common inherited anemia in persons of northern european descent. This is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, including spectrin, ankyrin, band 3, or protein 4. Hereditary spherocytosis the american journal of medicine. Mar 09, 2018 hereditary spherocytosis hs is an inherited condition that affects your red blood cells. Hereditary sphrocytosis is commonly autosomal dominant. The osmotically fragile spherocytes are selectively. Hereditary spherocytosis hs is the most common cause of nonimmune hemolytic anemia and the third most common cause of kernicterus after glucose6phosphatedehydrogenase deficiency and abo isoimmunization. Hereditary spherocytosis hs and chronic myelocytic leukemia cml are both life threatening hemotologic diseases.
Hereditary spherocytosis is the most common form of inherited hemolytic anemia in the us, northern europe, and notably in japan, affecting one person in 2000. Hereditary spherocytosis is characterized by spherocytes, a family history, and. Hereditary spherocytosis hs is the commonest cause of inherited haemolysis in northern europe and the usa. 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. Incidentally, the parents provided a history of repeated episodes of pallor and jaundice since she was two and half years old. The clinical severity of hs varies from symptom free carrier to severe haemolysis.
Oct 28, 2020 hereditary spherocytosis hs is the most common type of hereditary hemolytic anemia. Hereditary spherocytosis shafqat shah and roger vega. The defective red blood cell in hereditary spherocytosis annual. A case report of hereditary spherocytosis with concomitant chronic. Hereditary spherocytosis hs is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane and classifies as a type. Hereditary spherocytosis hs is the most common red cell membrane disorder. At the time of the initial diagnosis of hereditary spherocytosis and shortly after splenectomy, 8 g of iron was removed by phlebotomy. Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell. See more ideas about hereditary, blood disorder, hematology. The clinical spectrum ranges from asymptomatic patients to severe forms requiring transfusions in early childhood. Hereditary spherocytosis is an inherited blood disorder that often causes anemia and other problems. Disorders of red blood cell enzymes, membranes, and hemoglobin cause hereditary hemolytic anemias.
The condition is caused by a cytoskeletal protein deficiency in the rbc membrane. Hereditary spherocytosis treatment algorithm bmj best. Jun 30, 2020 patient with hereditary or nonsplenectomized spherocytosis written, informed and signed consent by the patient, or by at least one of the two parents or legal guardian if the patient is a minor patient affiliated to a social security scheme or assimilated. Hereditary spherocytosis hs results from qualitative andor quantitative protein defects in either ankyrin 8p11. Hereditary spherocytosis diagnosis, surgical treatment. Full text get a printable copy pdf file of the complete article 937k, or click on a page image below to browse page by page. Among 50 pregnancies in 23 women with spherocytosis, maternal complications were infrequent except for anemia, and perinatal outcomes were generally good. Hereditary spherocytosis is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. Hereditary spherocytosis hs pathophysiology youtube. Hereditary spherocytosis hs is clinically, biochemically, and genetically. Anesthetic management of a case with hereditary spherocytosis. This results in loss of membrane stability and deformability of the rbc, giving the cell its spherical shape spherocyte. The severity of resultant hemolysis is related to the type and amount of membrane. Hereditary spherocytosis and elliptocytosis are the two most.
We report a case of hereditary spherocytosis in a young man with type 1 diabetes, and illustrate the discrepancy in the measurements of. The writing group searched pubmed from 2003 to july 2010. Hs can be found in most racial groups, but it is less common in african american and south asia. Hereditary spherocytosis is a disease involving five membrane proteins that are. Autosomal dominant hereditary spherocytosis is the most common haemolytic anaemia among individuals from northern europe, with an incidence of 1 in 5000. Hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Please refrain from derogatory or bullying comments. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Dec 01, 2016 neonatal jaundice is commonly encountered in the neonatal period. Molecular genetic mechanisms of hereditary spherocytosis. The diagnosis can be based on the physical examination, complete red blood cell count, reticulocytes count, medical history and specific tests. It is indicated for patients particularly children, with recurrent hemolytic crisis, significant splenomegaly, severe aplastic crisis, cholelithiasis and developmental delay. As there is only little information on pregnancy complicated by hereditary spherocytosis, we report on 8 patients with this disorder who had a total of 19 pregnancies.
The unusually high frequency of spontaneous abortion in this family was probably due to this translocation and was unrelated to the spherocytosis. May 29, 2019 although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. Although it is mostly asymptomatic, severe cases may present as encephalopathy or kernicterus. Hereditary spherocytosis is probably inherited as a mendelian dominant with. The spherical appearance impairs membrane flexibility making it hard for red blood cells to transverse narrow capillaries, especially. Diagnosis of hereditary spherocytosis and secondary.
Hereditary spherocytosis hs is an extremely rare autosomal dominant disorder. The decreased surface area of the cell impairs the flexibility needed for the cell to traverse the spleens microcirculation, causing intrasplenic hemolysis. Hs is a condition in which red blood cells lose their typical biconcave disc shape and appear spherical. The defective red blood cell in 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. It occurs due to an intrinsic defect in the red cell membrane as a result of which cells have a spherocytic shape. A patient with both hereditary spherocytosis and hemochromatosis is described. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Localization of spherocytosis to chromosome 8 or 12 and. In asia, the descendants of the japanese origin has a common cases of having hereditary spherocytosis.
The use of glycosylated haemoglobin in the assessment of diabetic control is ubiquitous. Clinical features range from asymptomatic to fulminant haemolytic. In spherocytosis pronounced sfeerosytoesis, the outer shell of red blood cells is fragile. These cells are predisposed to splenic degradation, leading to hemolysis. Hereditary spherocytosis statpearls ncbi bookshelf. Clinical severity varies from case to case and family to family. It is caused by a mutation that changes the shape of red blood cells rbcs that makes them more fragile. Over time, small bits of the shell membrane come off when the cells pass through the spleen. Hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. Hereditary spherocytosis support group for children and adults with spherocytosis. The red blood cells are those that carry oxygen around the body.
The role of splenectomy in hereditary spherocytosis splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis. People with this condition typically experience a shortage of red blood cells, yellowing of the eyes and skin jaundice, and an enlarged spleen splenomegaly. 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 genetic and rare diseases.
Hereditary spherocytosis diagnosis, surgical treatment and. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. Erythrocyte energy metabolism in hereditary spherocytosis. The ensuing elevation of free 2,3dpg levels has a marked destabilizing effect. Hereditary spherocytosis radiology reference article. Hereditary spherocytosis hs is a familial haemo lytic disorder with marked heterogeneity. Carriers of an autosomal recessive condition typically do not have any signs or symptoms they are unaffected. Hereditary spherocytosis is a genetic, frequently familial hemolytic blood disease characterized by varying degrees of hemolytic anemia, splenomegaly, and jaundice.
Hereditary spherocytosis hs is a heterogeneous group of disorders with regard to clinical. Hereditary spherocytosis in a young male report of an unusual case. Hereditary spherocytosis hereditary ellipocytosis ank1, sptb, spta1, slc4a1, epb42 hereditary spherocytosis hereditary ellipocytosis. A 12year old girl was brought to the dhaka hospital of icddr,b with diarrhoea. Hereditary spherocytosis is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia. Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the persons red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Abnormalities of carbohydrate metabolism of red cells in. Hereditary spherocytosis kalyan m, kanitkar sa, gaikwad an. Glucose6phosphate dehydrogenase deficiency leads to hemolysis in the presence of oxidative stress. Hereditary spherocytosis is a condition that affects red blood cells. Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia.
The severity of the disorder is related to the type and amount of membrane. Feb 27, 2012 less commonly, hereditary spherocytosis is inherited in an autosomal recessive manner. The abnormalities in carbohydrate metabolism are correlated with the. Clinical severity is variable with most patients having a wellcompensated haemolytic anaemia. Hereditary spherocytosis an overview sciencedirect topics. The guideline group was selected to represent uk medical experts and patient representatives but sought the expertise of two overseas specialists with a particular interest in hereditary spherocytosis hs. The condition is dominantly inherited in 75% of people. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Hereditary spherocytosis hs, also known as minkowskichauffard disease, affects 1 in 2,000 individuals. In hereditary spherocytosis, the cell membrane surface area is decreased disproportionately to the intracellular content due to loss of proteins associated with the cell membrane. Some individuals are asymptomatic, whereas others have severe. Genotypephenotype correlation in hereditary spherocytosis core. Because the red cells are in the shape of a ball they are more fragile than normal red cells.
111 487 917 1358 1128 467 422 1384 152 1837 1031 726 1394 928 451 777 479 262 1741 451 1240 756 1747 241 1647 1241 787 160 1348 104 959 718 1191 1095 1291