Old and new insights into the diagnosis of hereditary spherocytosis. Review hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. The disease can be mild and go unrecognised in some people. Hereditary spherocytosis hs is a disorder of the surface, called the membrane, of your red blood cells. Molecular genetic mechanisms of hereditary spherocytosis. Our new crystalgraphics chart and diagram slides for powerpoint is a collection of over impressively designed datadriven chart and editable diagram s guaranteed to impress any audience. Genotypephenotype correlation in hereditary spherocytosis. Hereditary spherocytosis and hereditary elliptocytosis.
There is no simple cure for hereditary spherocytosis. Clinical severity is variable with most patients having a wellcompensated haemolytic anaemia. University college hospital hereditary spherocytosis. The last two years i find myself getting really tired and fall asleep for a few minutes to feel recharged. Attempts were made to combine flow cytometric assessment with the classic osmotic fragility test 34.
Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. Open heart operation in patients suffering from hereditary spherocytosis nasr l. Our children have it and our grandaughter has it so theirs is called hereditary spherocytosis. My husbands spherocytosis wasnt considered to be hereditary either because his parents did not test positive for it. 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 hereditary spherocytosis hs is the commonest cause of haemolysis in northern europe. In hereditary spherocytosis hs a congenital hemolytic process is. The role of splenectomy in hereditary spherocytosis splenectomy is considered the standard surgical treatment in moderate and severe forms of hereditary spherocytosis. These two automated blood cell analysers combine a red. The abnormal erythrocytes are sphereshaped spherocytosis rather than the normal biconcave disk shaped. Scared about hereditary spherocytosis and need advice rare. Young children up to 5 years of age may be prescribed folic acid supplements. Alloantibody hemolytic anemia, sometimes observed in recipients of organ transplants, may mimic aiha.
This condition is the most common cause of inherited anemia in that population. Red blood cells contain haemoglobin that transports oxygen around the body. Guidelines on hereditary spherocytosis hs published in 2004 bolton. Hereditary spherocytosis womens and childrens hospital.
Hereditary spherocytosis hs is a common type of hereditary hemolytic. 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. The molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Hereditary spherocytosis nord national organization for. These genes give the body instructions to make proteins that exist on the membranes of red blood cells. Symptoms of hereditary spherocytosis include jaundice yellowing of the skin and whites of the eyes, enlarged spleen, gallbladder problems, and anemia. Schematic presentation of the structural organisation of red cell cytoskeleton.
Hereditary spherocytosis hs is an inherited condition affecting red blood cells. Hereditary spherocytosis cincinnati childrens hospital. Spectrin is the key component in that it pairs with. Maggs et al, 2004 are here replaced to reflect changes in current opinion on the surgical management, particularly the indications for concomitant splenectomy with cholecystectomy in children with mild hs, and concomitant cholecystectomy with splenectomy in those with asymptomatic gallstones. Apr 14, 2009 spherocytosis is a form of hemolytic anemia. Guidelines for the diagnosis and management of hereditary. Hereditary spherocytosis knowledge for medical students and. Because the red cells are in the shape of a ball they are more fragile than normal red cells. Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell.
Hereditary spherocytosis genetics home reference nih. 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. Some increase the flexibility of cells so they can easily travel from larger blood vessels to smaller. 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.
Ppt hereditary spherocytosis powerpoint presentation free. Pdf additional erythrocytic and reticulocytic parameters helpful for. Hereditary spherocytosis is a conditions that is treated in the hemoglobinopathy and sickle cell program at childrens minnesota. Characteristic symptoms of hs are the destruction of red blood cells in the spleen and their removal from the blood stream hemolytic anemia, a yellow tone to the skin jaundice, and an enlarged spleen splenomegaly. 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. A person with this condition has a 50% chance of passing this gene onto hisher children. 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. Hereditary spherocytosis hs is an inherited condition that affects the red blood cells. The advantage of partial splenectomy over total splenectomy is that the small splenic remnant may preserve some of the immunological and filtering functions.
It causes your red blood cells to be shaped like spheres instead of flattened discs that. Presentation with parvovirus b19 infection causing transient severe anaemia is not uncommon. I also would like any information on the long term effects of hereditary spherocytosis. 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. Anaemia paleness, extreme tiredness, shortness of breath. Hereditary spherocytosisdefects in proteins that connect the membrane skeleton to the lipid bilayer stefan eber and samuel e. Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of sphericalshaped erythrocytes spherocytes on the peripheral blood smear.
Most children have mild disease with little interference with lifestyle. Hereditary hematological disorders red cell enzyme disorders. Hereditary spherocytosis occurs in 1 in 2,000 individuals of northern european ancestry. Hereditary spherocytosis, elliptocytosis, and other red cell. 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.
Jun 19, 2018 hereditary spherocytosis is a condition characterized by hemolytic anemia when red blood cells are destroyed earlier than normal. 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. Hereditary spherocytosis diagnosis, surgical treatment. Aiha is distinguished from hereditary spherocytosis by lack of a family history and positive antiglobulin tests. Surgery to remove the spleen splenectomy in children 5 years of age or older may be needed for severe cases. University college hospital hereditary spherocytosis north central london haemoglobinopathy network jointly with whittington health, royal free london and luton and dunstable nhs. Symptoms, generally milder in hereditary elliptocytosis, include variable degrees of anemia, jaundice, and splenomegaly. I have spherocytosis and i had gallstones about the same age as you. The laboratory diagnosis of hs is usually straightforward and additional tests are rarely required. Holden, frcs department of cardiothoracic surgery, freeman hospital, newcastleupontyne, united kingdom hereditary spherocytosis is a clinically heterogeneous. Hereditary spherocytosisdefects in proteins that connect the. Dallas, tx 75231 customer service 1800ahausa1 18002428721 local info contact us. Pdf hereditary spherocytosis hs belongs to the group of congenital. Learn vocabulary, terms, and more with flashcards, games, and other study tools.
The defective red blood cell in hereditary spherocytosis. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown, but it is much less common. Hereditary spherocytosis genetic and rare diseases. All the cells in our body have a surface membrane a layer that controls the movement of substances in and out of the cell.
Pdf old and new insights into the diagnosis of hereditary. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. Due to the various risks associated with absence of splenic function, partial splenectomy has been explored as an option. Hereditary spherocytosis hs is an inherited condition of red blood cells. Chart and diagram slides for powerpoint beautifully designed chart and diagram s for powerpoint with visually stunning graphics and animation effects. The cells are damaged as they pass through the spleen and do not survive as long as normal blood cells. It is indicated for patients particularly children, with recurrent hemolytic crisis, significant splenomegaly, severe aplastic crisis, cholelithiasis and developmental delay. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Hereditary spherocytosis may be caused by changes mutations in any of several genes.
Lux the molecular causes of hereditary spherocytosis hs have been unraveled in the past decade. Hereditary spherocytosis is a disorder of the red blood cell membrane that causes the cells to be spherical rather than flat. Hereditary spherocytosis diagnosis, surgical treatment and. The concentration of bilirubin in your gallbladder gets so high that it solidifies out as the gallstones. Hereditary spherocytosis hs is the most common congenital hemolytic disorder among individuals of northern european descent. 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. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. 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 is very common in people of northern european descent. Pdf hereditary spherocytosis hs is characterised by weakened vertical. Jan 20, 2015 hereditary spherocytosis, inherited disorders which manifest as sphericalshaped erythrocytes spherocytes on the peripheral blood smear.
Structure and stability of hereditary spherocytosis mutants of the cytosolic domain of the erythrocyte anion exchanger 1 protein. Jun 19, 2015 hereditary spherocytosis is an inherited condition related to rbc destruction. Hereditary spherocytosis hs is the commonest cause of inherited haemolysis in northern europe and the usa. The gallstones are directly caused by the spherocytosis. 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 emerging treatments bmj best. Spherocytosis, reticulocytosis, and positive antiglobulin coombs tests are characteristic laboratory features of aiha. Hereditary spherocytosis and hereditary elliptocytosis are congenital red blood cell rbc membrane disorders that can cause a mild hemolytic anemia. Hereditary spherocytosis is an inherited condition related to rbc destruction. Spherocytosis is one of the most common inherited hemolytic anemias.
It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. These proteins carry molecules in and out of cells, keep cell structure, and attach to other proteins. In others there may be severe anaemia requiring regular blood transfusions. Therefore, in the diagnosis of hs, we should combine clinical, erythrocyte morphological, biochemical, and genomic data.
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