Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. The disease usually is inherited as an autosomal dominant trait. A case report of hereditary spherocytosis with concomitant chronic myelocytic leukemia. This smear is from a patient with hereditary spherocytosis.
Gammopathy and spherocytosis annals of internal medicine. This usually helps the condition, but increases their risk of. Epb42related hereditary spherocytosis epb42hs is a chronic nonimmune hemolytic anemia that is usually of mild to moderate severity. Multiple factors involved, such as anemia, hyperbilirubinemia, and the effect of drugs.
This condition is the most common cause of inherited anemia in that population. Hereditary spherocytosis hs is the commonest cause of inherited haemolysis in northern europe and the usa. Professor of pediatrics, section of hematologyoncology, medical college of georgia, augusta, ga after completing this article, readers should be able to. Hereditary spherocytosis defects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. University college hospital hereditary spherocytosis. Hereditary spherocytosis is an inherited cause of hemolytic anemia. Hereditary spherocytosis blood american society of hematology. Hereditary spherocytosis hs is a common type of hereditary hemolytic anemia, with wide heterogeneity in the. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal.
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various. Feb 27, 2012 about 75% of cases of hereditary spherocytosis are inherited in an autosomal dominant manner. Hereditary spherocytosis is an inherited condition related to rbc destruction. Hereditary spherocytosis, elliptocytosis, and other red. For language access assistance, contact the ncats public information officer. Patients with pnh, similar to patients with chad, demonstrate. Hereditary spherocytosis is the predominant cause of spherocytosis, and is caused by several genetic mutations that lead to membrane abnormalities of red blood cells. 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. 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 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 prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. Fulltext pdf an unusual variant of hereditary spherocytosis. Molecular genetic mechanisms of hereditary spherocytosis.
The cells are damaged as they pass through the spleen and do not survive as long as normal blood cells. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. 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. Epb42hs can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis usually associated with a viral infection. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. Hereditary spherocytosis hs is an inherited condition that affects the red blood cells.
The surgical management of hereditary spherocytosis presumed, historically, total splenectomy. Hereditary spherocytosis, elliptocytosis, and other red cell. They are written by uk doctors and based on research evidence, uk and european guidelines. Hereditary spherocytosis congenital hemolytic anemia hereditary spherocytosis is a genetically determined hemolytic disorder characterized by the globular shape of the erythrocytes. Spherocytosis, reticulocytosis, and positive antiglobulin coombs tests are characteristic laboratory features of aiha. Hereditary spherocytosis hs is the most commonly inherited membrane disorder resulting from the assembly of a structurally dysfunctional red cell membrane. 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. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins. Hereditary spherocytosis american academy of pediatrics. Watch the video lecture hereditary spherocytosis hs. This is to reduce the risk of injury to the spleen, which is often enlarged in people with hs.
Because of an inherited abnormality in structural red cell membrane proteins, the red cell sheds microparticles such that the membrane loses surface area. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. 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 spherocytosisdefects in proteins that connect the. 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 immune system. Hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. A patient with both hereditary spherocytosis and hemochromatosis is described. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an. The molecular basis of hereditary red cell membrane disorders. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Hereditary spherocytosis hs is characterized by the morphological transformation of erythrocytes into a spherical shape due to a hereditary defect in cell membrane. Spherocytosis is the presence in the blood of spherocytes, i. The aplastic crisis in hereditary spherocytosis american.
Caroline cromwell, michael paidas, in hematology seventh edition, 2018. Hereditary spherocytosis is a condition that affects red blood cells. A case report of hereditary spherocytosis with concomitant chronic. Hereditary spherocytosis genetic and rare diseases. Hereditary spherocytosis hs is the most frequent form of red blood cell membrane disorder and the most common cause of chronic hereditary hemolytic anemia. Epb42related hereditary spherocytosis ncbi bookshelf. Hereditary spherocytosis the american journal of medicine. Some people with hs may be offered surgery to remove their spleen. Hereditary spherocytosis cincinnati childrens hospital. This is a collection of inherited disorders which manifest as spherical. Hereditary spherocytosis an overview sciencedirect topics. It is the most common inherited hemolytic anemia in northern europeans and is characterized by a defect in the red cell membrane resulting in spherocytic, osmotically fragile red cells.
These genes give the body instructions to make proteins that exist on the membranes of red blood cells. Hereditary spherocytosis hs is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane and classifies as a type. Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia. A pediatricians practical guide to diagnosing and treating. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. Clinical severity is variable with most patients having a wellcompensated haemolytic anaemia. Hereditary spherocytosis results from mutations in spectrinassociated proteins. About 75% of cases of hereditary spherocytosis are inherited in an autosomal dominant manner. Mutations dominant or recessive in several of these proteins. Pnh causes the early death and impaired production of blood cells red blood cells, white blood cells, and platelets. 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. Note the dense microspherocytes with absent central pallor.
Patients who have hereditary spherocytosis hs may develop profound anemia following infection with parvovirus b19. Recognize the primary clinical features of hereditary spherocytosis hs. Hereditary spherocytosis is transmitted as an autosomal dominant and, much less often, as an autosomal recessive disorder as many as 25% of patients have no previous family history. Polycythemia occurred 14 years after splenectomy, and the rubrocytes retained the spherocytic shape. Mar 09, 2018 hereditary spherocytosis hs is an inherited condition of red blood cells. Spectrin is an intracellular protein that normally forms a matrix with other proteins to stabilize the biconcave shape of rbcs.
Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Doctors have several ways to test for spherocytosis, such as blood tests and checking the spleen. Some increase the flexibility of cells so they can easily travel from larger blood vessels to smaller. Hereditary spherocytosis may be caused by changes mutations in any of several genes. Soliris is a drug that has been fda approved to treat paroxysmal nocturnal hemoglobinuria pnh. In others there may be severe anaemia requiring regular blood transfusions. Spheroid red cells most commonly result from abnormalities of spectrin or. Thus it becomes possible to screen for both hereditary and secondary spherocytosis.
Aiha is distinguished from hereditary spherocytosis by lack of a family history and positive antiglobulin tests. Congenital spherocytic hemolytic anemia, congenital spherocytosis, spherocytic anemia. View hereditary spherocytosis research papers on academia. Doctors may recommend that children with hereditary spherocytosis hs avoid activities that could result in blunt injuries to the abdomen.
The first reported case of hereditary spherocytosis hs and glucose6phosphate dehydrogenase deficiency in a black is presented. Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell. At the time of the initial diagnosis of hereditary spherocytosis and shortly after splenectomy, 8 g of iron was removed by phlebotomy. Hanada and koike found that parvovirus b19 invades. Hereditary spherocytosis is the most common inherited hemolytic anemia among people of northern european descent see chapter 46. Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. The hereditary stomatocytoses and allied disorders. Alloantibody hemolytic anemia, sometimes observed in recipients of organ transplants, may mimic aiha.
Jan 20, 2015 professional reference articles are designed for health professionals to use. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. Most children have mild disease with little interference with lifestyle. 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. May 09, 2019 hereditary spherocytosis hs is an inherited condition that affects the red blood cells. Due to the hereditary nature of spherocytosis, parents with a family history should have their children tested.
These include hereditary spherocytosis hs, hereditary elliptocytosis he, hereditary ovalocytosis. Morphologically, spherocytes are rounded cells that have lost the ability to change shape. The disease can be mild and go unrecognised in some people. Because the average survival of a spherocyte in patients who have hs is approximately 30 days, sites of hematopoiesis actively compensate for the shortened survival of these cells to maintain a stable hemoglobin level. Hereditary spherocytosis occurs in 1 in 2,000 individuals of northern european ancestry. Red blood cells contain haemoglobin that transports oxygen around the body. We describe a case of hereditary spherocytosis in a neonate with pyloric stenosis requiring laparoscopic pyloromyotomy. Hereditary spherocytosis hs support group genetic and. 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. Erythrocyte membrane protein destabilization versus clinical outcome in portuguese hereditary spherocytosis patients. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Hereditary spherocytosis and polycythemia jama internal. The most frequently observed are hereditary spherocytosis and hereditary elliptocytosis caused by deficiencies in membrane and cytoskeleton proteins or. 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.
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 spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. 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. Ppt hereditary spherocytosis powerpoint presentation. To our knowledge, this is the first report of such a case in. Hereditary spherocytosis hs is an inherited condition of red blood cells. Some babies with hereditary spherocystosis can have jaundice, often at birth.
Hereditary spherocytosis diagnosis, surgical treatment and outcomes. Mar, 2014 epb42related hereditary spherocytosis epb42hs is a chronic nonimmune hemolytic anemia that is usually of mild to moderate severity. Hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Polycythemia that was clinically indistinguishable from polycythemia vera was observed in a patient who had splenectomy to palliate the anemia and hemolysis of hereditary spherocytosis. Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis.
Hereditary spherocytosis diagnosis, surgical treatment. The offspring of an individual with an autosomal recessive ar form of hereditary spherocytosis will definitely be a carrier of the condition. It is uncommon in people of african descent kline and holman 1957. The proposal by schafer and associates that chronic stimulation of the reticuloendothelial system might foster the neoplastic transformation of immunocytes is intriguing. Hereditary spherocytosis statpearls ncbi bookshelf. Hereditary spherocytosis is the most commonly inherited hemolytic anemia causing hyperbilirubinemia and mild anemia. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Anesthetic management for laparoscopic pyloromyotomy is challenging. Primary hemochromatosis with hereditary spherocytosis. Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. However, total splenectomy exposes the patient to a life long risk of.
Hereditary spherocytosisdefects in proteins that connect. Hereditary spherocytosis 1 hereditary spherocytosis. Hereditary spherocytosis hs is the most common red cell membrane disorder. You may find the hereditary spherocytosis article more useful, or one of our other health articles. Ppt hereditary spherocytosis powerpoint presentation free. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Hereditary spherocytosis genetics home reference nih. I read with interest the report of a possible pathogenic relation between monoclonal gammopathy and hereditary spherocytosis ann intern med 88. Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. In some cases, an affected person inherits the mutated gene from an affected parent. Sep 11, 2012 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. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. Spherocytes are found in all hemolytic anemias to some degree.
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