Apr 14, 2009 spherocytosis is a form of hemolytic anemia. Nonhereditary spherocytosis symptoms, causes, diagnosis, and treatment information for nonhereditary spherocytosis nonhereditary spherocytic anemia with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Hereditary spherocytosis occurs in 1 in 2,000 individuals of northern european ancestry. All structured data from the file and property namespaces is available under the creative commons cc0 license. Chasis, hereditary spherocytosis and hereditary elliptocytosis. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having only spherocytes.
Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum from heredltaria carriers to severe hemolysis characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. The role of splenectomy in hereditary spherocytosis splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis. Hereditary spherocytosis may be caused by changes mutations in any of several genes. Hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. For some reason ppl cant follow directions, but after a week of his being under lights in the hospital he was released with light therapy at home. The result is that the red cell can no longer maintain its biconcave disc shape and becomes more spherocytic, a shape. At that time, her peripheral blood smear showed erythrocyte morphology consistent with hereditary spherocytosis. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Hereditary spherocytosis diagnosis, surgical treatment and. Spherocytes are found in all hemolytic anemias to some degree.
Files are available under licenses specified on their description page. Morphologically, spherocytes are rounded cells that have lost the ability to change shape. 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. Hs is often classified as being mild, moderate or severe. Aug 12, 2019 esferocitosis neonatal pdf hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The surgical management of hereditary spherocytosis presumed, historically, total splenectomy. It is indicated for patients particularly children, with recurrent hemolytic crisis, significant splenomegaly, severe aplastic crisis, cholelithiasis and developmental delay.
To download the pdf, click the download link below. Hereditary spherocytosis cincinnati childrens hospital. 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. However, total splenectomy exposes the patient to a life long risk of. A large family study of hereditary spherocytosis hs has not been reported since races classic work in 1942. The defects normally result in a shortened lifespan of cells. Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. The disorder is acute cases can threaten to cause hypoxia through anemia. 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 spherocytosis is a red cell membrane disorder that causes hemolytic anemia. People with very mild hs may not have any signs or symptoms unless an environmental trigger causes symptom onset. Guidelines on hereditary spherocytosis hs published in 2004 boltonmaggs, et al 2004 are here replaced to reflect changes in current opinion on the surgical. A person with this condition has a 50% chance of passing this gene onto hisher children. Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade.
Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. Splenomegaly, hypersplenism, and hereditary disorders with. These genes give the body instructions to make proteins that exist on the membranes of red blood cells. Hereditary spherocytosis blood american society of. Rare complications include poor growth, skin ulceration, chronic dermatitis, high output heart failure, and secondary iron overload. Typically, red blood cells will circulate throughout the body for months and then be replaced by new ones. 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 is the presence in the blood of spherocytes, i. Red blood cells contain haemoglobin that transports oxygen around the body. I knew what it was immediately bc i had in his file that they were to check him for it as soon as he was born. Our children have it and our grandaughter has it so theirs is called hereditary spherocytosis. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common.
For language access assistance, contact the ncats public information officer. Hereditary spherocytosis treatment questions answered. Hereditary spherocytosis is a condition that affects red blood cells. Guidelines for the diagnosis and management of hereditary. Hs is due to a mutation in spectrin, ankyrin, band 3 protein, or protein 4. Guidelines for the diagnosis and management of hereditary spherocytosis. However, it may depend on the severity of the condition in each person. This condition is the most common cause of inherited anemia in that population. In others there may be severe anaemia requiring regular blood transfusions.
Alternatively, you can also download the pdf file directly to your computer, from where it can be opened using a pdf reader. Old and new insights into the diagnosis of hereditary spherocytosis. Note the dense microspherocytes with absent central pallor. Treatment is with folic acid and, where necessary, a splenectomy. The abundance of new information, dealing principally with molecular and genetic aspects of pathophysiology, is beginning to have implications for its investigation and management.
Some increase the flexibility of cells so they can easily travel from larger blood vessels to. 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. Hereditary spherocytosis nord national organization for. Her medical records indicated that she had experienced neonatal jaundice requiring exchange transfusions, and at 6 years of age she had been evaluated for severe anemia. Hereditary spherocytosis and hereditary elliptocytosis. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. Hereditary spherocytosis hs is one of the most common hereditary haemolytic anaemias 1. Full text is available as a scanned copy of the original print version. Know the causes, symptoms, treatment and diagnosis of hereditary spherocytosis. Hereditary spherocytosis hs is the most common hemolytic anemia due to a red blood cell rbc membrane disorder. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Hereditary spherocytosis hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe.
Splenectomy in this disorder is usually effective in causing a cessation of the excessive red cell destruction and relieving the anemia and jaundice. This smear is from a patient with hereditary spherocytosis. Hereditary spherocytosis with fatal complicationsnecessity. Hereditary spherocytosis associated with viral pneumonia a case report. Hereditary spherocytosis, elliptocytosis, and other red cell. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. University college hospital hereditary spherocytosis. Overall, the longterm outlook prognosis for people with hereditary spherocytosis hs is usually good with treatment. Ppt hereditary spherocytosis powerpoint presentation. Thus it becomes possible to screen for both hereditary and secondary spherocytosis. University college hospital hereditary spherocytosis north central london haemoglobinopathy network jointly with whittington health, royal free london and luton and. She had been cared for 1 week earlier in the emergency department because of a sore throat, and was noted to have a mild anemia.
Some patients with recessive hs have a mutation in the spectrin. Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis. Hereditary spherocytosisdefects in proteins that connect. Hereditary spherocytosis associated with viral pneumonia. 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. Links to pubmed are also available for selected references. Esferocitosis neonatal pdf hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Some babies with hereditary spherocystosis can have jaundice, often at birth. This usually helps the condition, but increases their risk of. This is a collection of inherited disorders which manifest as spherical. Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, andor enlargement of the spleen. Hereditary spherocytosis hs is an inherited disease that affects the red blood cells. Hereditary spherocytosis womens and childrens hospital.
Anaemia paleness, extreme tiredness, shortness of breath. Apr 28, 2016 very rarely, hereditary spherocytosis hs in people that have not undergone splenectomy has been associated with moyamoya disease, which can increase the risk of blood clots, strokes, and transient ischemic attacks. Hereditary spherocytosis is very common in people of northern european descent. Clinical, hematologic and genetic features in 28 cases, with particular reference to the osmotic and mechanical fragility of incubated erythrocytes. Some people with hs may be offered surgery to remove their spleen. They are written by uk doctors and based on research evidence, uk and european guidelines. Hereditary spherocytosis is a disease involving five membrane proteins that are in close contact with each other in the red cell membrane.
Hereditary spherocytosis associated with deletion of human. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins. My husbands spherocytosis wasnt considered to be hereditary either because his parents did not test positive for it. Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis. Longterm evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. This page was last edited on 7 february 2019, at 14. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrinbased membrane skeleton is responsible for the unique features. Hereditary spherocytosis hs belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. Get a printable copy pdf file of the complete article 1. Hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. Hereditary spherocytosis hs is the most common red cell membrane disorder. 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.
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. Three patients with hereditary spherocytosis and 1 patient with the fanconi syndrome pancytopenia and multiple congenital abnormalities were transfused prior to splenectomy with normal erythrocytes of types which could be differentiated serologically from those of the recipients. Hereditary spherocytosisdefects in proteins that connect the. Hereditary spherocytosis is a relatively common haematological disorder and will be encountered by all haematologists. If you have problems viewing pdf files, download the latest version of adobe reader. It is reported worldwide and is the most common inherited anaemia in individuals of. Hereditary spherocytosis 1 hereditary spherocytosis. Hs red cells from both autosound dominant and recessive variants are spectrindeficient 2,3, which correlates with the severity of the disease 3. Due to defective cell membrane, red cell are spherical shapes and causes early lysis of red. The molecular basis of hereditary red cell membrane disorders. Because of an inherited abnormality in structural red cell membrane proteins, the red cell sheds microparticles such that the membrane loses surface area.
Hereditary spherocytosis is an inherited condition related to rbc destruction. Hereditary spherocytosis hs is characterized by the morphological transformation of erythrocytes into a spherical shape due to a hereditary defect in cell membrane proteins ghosts associated. Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. 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. 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 a disease characterized by the inherited abnormality of spherocytic red cells, associated with varying degrees of hemolytic anemia and jaundice. Hereditary spherocytosis, elliptocytosis, and other red. You may find the hereditary spherocytosis article more useful, or one of our other health articles. Old and new insights into the diagnosis of hereditary. Hereditary spherocytosis hs is an inherited condition of red blood cells. Races report lacked a description of laboratory procedures and data.
Hereditary spherocytosis genetics home reference nih. Hereditary spherocytosis hs is an inherited condition affecting red blood cells. Dec 19, 2017 hereditary spherocytosis is a pathological condition characterized by irregular shape of the red blood cells. Ppt hereditary spherocytosis powerpoint presentation free. Hereditary spherocytosis genetic and rare diseases. Most children have mild disease with little interference with lifestyle. Case presentation wafik eldeiry, mda 28yearold woman was referred for evaluation of an abnormal peripheral blood smear. Due to the hereditary nature of spherocytosis, parents with a family history should have their children tested. Hereditary spherocytosis blood american society of hematology. On the other hand, infarction is a more common complica tion in splenomegalic patients with hematological malig nancies e. 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 diagnosis, surgical treatment and outcomes.
The disease can be mild and go unrecognised in some people. Jan 20, 2015 professional reference articles are designed for health professionals to use. Hereditary spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. In all cases individual patient circumstances may dictate an alternative approach. Hereditary spherocytosis is a rare blood disorder that is commonly characterized by defects that are present in red blood cells.
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