Hereditary spherocytosis is a condition that affects red blood cells. Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. Microfilamentous proteins resembling actin are important to the shape of the red cell. Doctors have several ways to test for spherocytosis, such as blood tests and checking the spleen. 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. Red blood cells contain haemoglobin that transports oxygen around the body. Its so nice to find a current forum for people with spherocytosis. On the other hand, infarction is a more common complica tion in splenomegalic patients with hematological malig nancies e. Hereditary spherocytosis diagnosis, surgical treatment. Healthy persons probably develop an erythroblastopenia when experiencing their first contact with hpv, but. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. Anaemia paleness, extreme tiredness, shortness of breath. Some babies with hereditary spherocystosis can have jaundice, often at birth. Hereditary spherocytosis is a clinically heterogeneous, genetically determined red blood cell membrane disorder resulting in hemolytic anemia.
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 is very common in people of northern european descent. Hereditary spherocytosis hs is the most common red cell membrane disorder. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. Splenectomy in this disorder is usually effective in causing a cessation of the excessive red cell destruction and relieving the anemia and jaundice.
Treatment is with folic acid and, where necessary, a splenectomy. Test hereditary spherocytosis type 1 via the ank1 gene. This smear is from a patient with hereditary spherocytosis. Hereditary spherocytosis 1 hereditary spherocytosis. Hereditary spherocytosis is a disease involving five membrane proteins that are in close contact with each other in the red cell membrane. May 04, 2020 esferocitosis neonatal pdf hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. Hereditary spherocytosis may be caused by changes mutations in any of. Splenomegaly, hypersplenism, and hereditary disorders with. Because of an inherited abnormality in structural red cell membrane proteins, the red cell sheds microparticles such that the membrane loses surface area.
Most children have mild disease with little interference with lifestyle. Hereditary spherocytosis statpearls ncbi bookshelf. Disease symptoms can vary greatly with modest forms of the disease being most common 6075% of. Hereditary spherocytosis silverio perrotta, patrick g gallagher, narla mohandas hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. On the evidence of princess daisy, judith krantz deserves her high place in the bestseller lists.
Although relatively rare, hereditary spherocytosis hs is the most common cause of hemolytic anemia due to a red cell membrane defect. Her hematological parameters supported diagnosis of hereditary spherocytosis. In all cases individual patient circumstances may dictate an alternative approach. Ppt hereditary spherocytosis powerpoint presentation. Hereditary spherocytosis hs is a condition where red blood cells lose their typical biconcave disc shape and appear spherical. Spherocytes are found in all hemolytic anemias to some degree. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Hereditary spherocytosis is a disease characterized by the inherited abnormality of spherocytic red cells, associated with varying degrees of hemolytic anemia and jaundice. Hereditary spherocytosishs 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. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. The role of splenectomy in hereditary spherocytosis splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis. Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell rbc membrane disorders that can cause a mild hemolytic anemia.
Due to defective cell membrane, red cell are spherical shapes and causes early lysis of red. Hereditary spherocytosis see online here in hereditary spherocytosis, red cells on the blood. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. North central london haemoglobinopathy coordinating centre. My mom, my sister, and i all have hereditary spherocytosis. In others there may be severe anaemia requiring regular blood transfusions. Prognosis the prognosis is variable and depends on the severity of the disease and any associated complications. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Hereditary spherocytosis hs is the most common intrinsic redcellmembrane disorder associated with hemolysis. All the cells in our body have a surface membrane a layer that controls the movement of substances in and out of the cell.
The cause of hereditary spherocytosis is one of the topics tested in this quizworksheet combo. However, splenectomy typically cures the anemia improving associated symptoms in people with hs. 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. Father died of similar illness at the age of 40 years. 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. Spherocytosis definition of spherocytosis by medical.
This condition is the most common cause of inherited anemia in that population. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Hereditary spherocytosis genetic and rare diseases. Dec 19, 2017 hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Recognize the primary clinical features of hereditary spherocytosis hs.
My sister and i both had our spleens removed around age 7. No frequent defect is found, and nearly every family has a unique mutation. Spherocytosis definition of spherocytosis by medical dictionary. If you have problems viewing pdf files, download the latest version of adobe reader. 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. For language access assistance, contact the ncats public information officer. Hereditary spherocytosis occurs in 1 in 2,000 individuals of northern european ancestry. Hereditary spherocytosis hs is the most frequent form of red blood cell membrane disorder and the most common cause of chronic hereditary hemolytic anemia. 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 is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Hereditary spherocytosis hs is an inherited condition of red blood cells. Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists.
It may become manifest at any age, the majority of the patients presenting before the age of 25 years. It is indicated for patients particularly children, with recurrent hemolytic crisis, significant splenomegaly, severe aplastic crisis, cholelithiasis and developmental delay. Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. Hereditary spherocytosis, elliptocytosis, and other red. Hereditary spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. Pdf hereditary spherocytosis hs is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an. Hereditary spherocytosis hs support group genetic and.
Alternatively, you can also download the pdf file directly to your computer, from where it can be opened using a pdf reader. Since then, hs really hasnt impacted my life much at all besides having a huge scar from the splenectomy. This usually helps the condition, but increases their risk of. Note the dense microspherocytes with absent central pallor. Fromthe hematology division, department ofmedi cine, thejohns hopkins university schoolof medicine. Fatigue may be a symptom of hereditary spherocytosis hs, and is often associated with anemia in affected people. The disorder is acute cases can threaten to cause hypoxia through anemia. Guidelines for the diagnosis and management of hereditary spherocytosis.
The incidence of hs in the united states is 200 to 400 cases per million population. 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 spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Apr 28, 2016 we are unable to say whether it may be associated with hereditary spherocytosis, splenectomy, or gallbladder removal in any specific case. 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. Old and new insights into the diagnosis of hereditary. Hereditary spherocytosis hs is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane and classifies as a type. Races report lacked a description of laboratory procedures and data. Comparable membrane proteins occur throughout phylogeny under circumstances. The disease can be mild and go unrecognised in some people. The disease usually is inherited as an autosomal dominant trait. Hereditary spherocytosisdefects in proteins that connect the. The fragile red cells can break down, also known as red cell.
The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. Some people with hs may be offered surgery to remove their spleen. Symptoms of hereditary spherocytosis include jaundice yellowing of the skin and whites of the eyes, enlarged spleen, gallbladder problems, and anemia. Due to the hereditary nature of spherocytosis, parents with a family history should have their children tested. 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.
Spherocytosis most often refers to hereditary spherocytosis. Hereditary spherocytosis womens and childrens hospital. New to the hereditary spherocytosis forum rare diseases. 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. Hereditary spherocytosis blood american society of. 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 cell. A person with this condition has a 50% chance of passing this gene onto hisher children. Screening for hereditary spherocytosis by use of automated erythrocyte indexes. Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Morphologically, spherocytes are rounded cells that have lost the ability to change shape. Hereditary spherocytosis north central london haemoglobinopathy coordinating centre. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly.
To download the pdf, click the download link below. It is reported worldwide and is the most common inherited anaemia in individuals of. The pdf file you selected should load here if your web browser has a pdf reader plugin installed for example, a recent version of adobe acrobat reader. Hereditary spherocytosis cincinnati childrens hospital. Guidelines for the diagnosis and management of hereditary. Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Esferocitosis neonatal pdf hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes.
Open heart operation in patients suffering from hereditary. Hereditary spherocytosis hs is the most common cause of nonimmune hemolytic anemia and the third most. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et al 2004 are here replaced to reflect changes in current opinion on the surgical. Jun 19, 2018 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. Bcsh guidelines for the diagnosis and management of hereditary. The fragile red cells can break down red cell haemolysis and. Hereditary spherocytosis is an inherited condition related to rbc destruction. Debre, paris, f75019, france b universite paris diderot, sorbonne paris cite, paris, f75010, france. Hereditary spherocytosis diagnosis, surgical treatment and.
Hereditary spherocytosis and hereditary elliptocytosis. Know the causes, symptoms, treatment and diagnosis of hereditary spherocytosis. Erythrocyte esfercoitose protein destabilization versus clinical outcome in portuguese hereditary spherocytosis patients. Silverio perrotta, patrick g gallagher, narla mohandas. 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. Jacob and jandl 1964 were of the view that the primary defect is in the red cell membrane, which is abnormally permeable to sodium. The result is that the red cell can no longer maintain its biconcave disc shape and becomes more spherocytic, a shape. A large family study of hereditary spherocytosis hs has not been reported since races classic work in 1942. The fragile red cells can break down, also known as red cell haemolysis, and cause anaemia. Guidelines for the diagnosis and management of hereditary spherocytosis 2011 br j haematol. Some people with severe hs may remain anemic postsplenectomy, and may need blood transfusions during an infection. Hereditary spherocytosis with fatal complicationsnecessity.
Hereditary spherocytosis, the most frequent of the familial anemias. Hereditary spherocytosis blood american society of hematology. 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 spherocytosisdefects in proteins that connect. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management.
Hereditary spherocytosis in neonates with hyperbilirubinemia. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. A number of inherited red cell disorders due to altered membrane function have been identified. It is rela tively common in all races, but occurs predominantly in white people. Ppt hereditary spherocytosis powerpoint presentation free. 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. 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. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. Hereditary spherocytosis genetics home reference nih. Spherocytosis is the presence in the blood of spherocytes, i. It is characterized by anemia due to chronic extravascular hemolysis, jaundice, formation of bilirubin gallstones, reticulocytosis and splenomegaly aster et al. Because the red cells are in the shape of a ball they are more fragile than normal red cells. History, clinical examination, and laboratory findings of the girl and her family members suggested a case of hereditary spherocytosis.