Hereditary spherocytosisHHereditary spherocytosisHereditary spherocytosisEnglishGenetics;HaematologyChild (0-12 years);Teen (13-18 years)Gall Bladder;SpleenGallbladderConditions and diseasesAdult (19+) CaregiversNA2019-01-02T05:00:00Z9.5000000000000054.00000000000001694.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Learn about hereditary spherocytosis, how it is diagnosed, treated, and what the potential complications are for people living with the condition.</p><h2>What is hereditary spherocytosis?</h2><p>Hereditary spherocytosis (HS) is a genetic blood disorder of the red blood cells. Red blood cells contain hemoglobin, which is the molecule that carries oxygen from the lungs to the rest of the body.</p><p>Red blood cells are usually shaped like a disk, with a depressed centre, like a donut without a hole. In HS, most red blood cells are circular and shaped like spheres. These are called spherocytes.</p> <figure class="asset-c-80"> <span class="asset-image-title">Spherocytes with hereditary spherocytosis</span> <img src="https://assets.aboutkidshealth.ca/akhassets/hereditary_spherocytosis_EN.png" alt="" /> <figcaption class="asset-image-caption">Red blood cells are usually round with a depressed centre. However, a person with HS will have mostly sphere-shaped red blood cells, called spherocytes. This occurs when there is a defect in one of the five proteins that help to maintain the internal framework of the cell, called the cytoskeleton. </figcaption> </figure> <p>HS is the most common form of inherited hemolytic anemia. “Hemolytic” refers to hemolysis, which is the breakdown of the red blood cells. <a href="/Article?contentid=841&language=English">Anemia</a> is a lack of either hemoglobin or red blood cells in the body.</p><h2>Key points</h2><ul><li>Hereditary spherocytosis (HS) is an inherited blood disorder of the red blood cells.</li><li>Red blood cells in HS are round rather than donut shaped and are destroyed in the spleen at an increased rate.</li><li>Symptoms of HS may include anemia, jaundice and an enlarged spleen.</li><li>HS is a lifelong condition but symptoms can be managed and treated.</li><li>Some people may benefit from having a portion, or all, of the spleen surgically removed. Discuss your options with your child’s doctor.</li></ul><h2>Signs and symptoms of hereditary spherocytosis<br></h2><p>Common signs and symptoms of HS include:</p><ul><li>symptoms of anemia including pale skin (pallor) compared to your child’s normal colour, low energy (fatigue), irritability</li><li>signs of jaundice including yellowing of the skin and the whites of the eyes</li><li>enlarged spleen (also known as splenomegaly)</li></ul><p>The severity of symptoms varies from one child to another but is typically the same among affected family members. However, this may vary in some cases. </p><p>HS can be categorized as mild, moderate or severe.</p><ul><li>About 20-30% of people with HS have a mild form.</li><li>The majority (60-80%) of people with HS have a moderate form.</li><li>A small number of people with HS (10-20%) have a severe form of HS. </li></ul><p>The severity of the disease depends on the degree of anemia. This is based on your child’s:</p><ul><li>baseline (typical) hemoglobin level </li><li>reticulocyte count (immature red blood cells) </li><li>bilirubin level </li><li>spleen size (if the spleen is enlarged i.e. splenomegaly)</li></ul><h2>Causes of hereditary spherocytosis</h2><p>Spherocytes are round because they have a defect in the internal framework, called the cytoskeleton. Every cell in the body has a cytoskeleton, which is made of specialized proteins. These proteins assemble neatly in a sturdy but flexible network that gives each cell their particular shape and elasticity. Due to the defect in HS, the cells become more rigid and less flexible.</p><p>In HS, there is a defect in one or more of the five proteins of the cytoskeleton. This defect impacts only the red blood cells. Spherocytes are not as flexible as normal red blood cells and cannot move through the spleen as easily. This causes the spherocytes to be trapped and destroyed in the spleen. Although it is part of the spleen’s job to filter and destroy red blood cells, in HS red blood cells become trapped faster than the spleen can destroy them. This causes the spleen to grow bigger (enlarged) over time. Doctors may refer to an enlarged spleen as splenomegaly. </p> <figure class="asset-c-80"><span class="asset-image-title">Splenomegaly (enlarged spleen)</span><img src="https://assets.aboutkidshealth.ca/akhassets/splenomegaly_EN.jpg" alt="" /><figcaption class="asset-image-caption">In hereditary spherocytosis, red blood cells become trapped in the spleen faster than the spleen can destroy them. As a result, the spleen grows larger.</figcaption> </figure> <p>As a result of this constant breakdown (hemolysis), the contents of red blood cells are released. This creates the following health issues:</p><ul><li>Anemia (low hemoglobin)</li><li>Jaundice; when hemoglobin is broken down, it forms bilirubin that can cause the skin and whites of the eyes to appear yellow</li><li>Gallstones can develop because of increased red blood cell turn over</li></ul><h3>Inheritance</h3><p>In most cases, HS is an inherited genetic condition, which means that the genes involved in HS are typically passed down from one or both parents to their children.</p><p>For more information on how HS is inherited, please see <a href="/Article?contentid=3631&language=English">Hereditary spherocytosis: Genetics</a>.</p><h2>Diagnosis of hereditary spherocytosis</h2><p>HS can be diagnosed at any age from infancy or childhood to adulthood. Babies and children with HS are usually diagnosed because they appear jaundiced and/or anemic.</p><h3>Blood tests</h3><p>To diagnose HS, your child will need the following blood tests:</p><ul><li>Complete blood count (CBC): a CBC measures the number of different cells in the blood and measures the number of red blood cells to test for anemia.</li><li>Reticulocyte count: indicates how quickly young red blood cells, called reticulocytes, are being produced and released from the bone marrow. </li><li>Blood smear: a blood sample is examined under a microscope to see the size and shape of individual blood cells. </li></ul><p>The CBC may show a decrease in the hemoglobin and an increased reticulocyte count. People with HS have an increased number of reticulocytes because the bone marrow is producing more red blood cells to compensate for the hemolysis. The blood smear may show spherocytes.</p><p>A blood smear is usually enough to diagnose HS, however additional blood tests may be needed.</p><h3>Abdominal ultrasound</h3><p>Your child’s doctor may order an abdominal ultrasound once your child reaches school age (or earlier, if necessary). The abdominal ultrasound will help measure the size of the spleen and show if there are gallstones in the gallbladder. </p><h2>Treatment of hereditary spherocytosis</h2><p>HS is a lifelong condition. Treatment usually involves treating and managing the symptoms of HS. </p><h3>Phototherapy</h3><p><a href="/Article?contentid=775&language=English">Jaundice</a> can be a problem in the newborn period if the bilirubin levels are too high and may require treatment, such as phototherapy. Phototherapy involves exposing the skin to a special blue light that changes bilirubin to a form that can be passed out of the body more easily. </p><h3>Blood transfusion</h3><p>In some cases, a <a href="/Article?contentid=1107&language=English">blood transfusion</a> is required for severe anemia. This is most common in the first year of life but may be ongoing if the anemia is severe. Most children with HS do not need blood transfusions on a regular basis.</p><p>Your child’s doctor will decide if a blood transfusion is needed and will discuss the risks and benefits with you.</p><h3>Splenectomy</h3><p>Some children with HS may benefit from having a portion (partial splenectomy), or all (full splenectomy), of their spleen removed. This surgery is called a splenectomy.</p><p>The spleen plays an important role in protecting the body from certain bacterial infections, thus it is best to delay a total splenectomy as long as possible. Total splenectomy is only done in cases where patients have severe symptoms from HS. A hematologist will determine if a splenectomy is necessary. A hematologist is a physician who specializes in diagnosing, treating and preventing blood and bone marrow diseases.</p><p>One of the major risks following a total splenectomy is a serious blood infection called <a href="/Article?contentid=2316&language=English">sepsis</a>. To minimize the risk of infection, your child will be given vaccinations (in addition to their routine vaccines) before the splenectomy.</p><p>After the splenectomy prophylactic (preventative) antibiotics will be prescribed to help prevent potential infections. Your child will also require booster immunizations in the years following a splenectomy. Talk to your child’s doctor to learn which immunizations will be required.</p><p>If your child has had a splenectomy and develops a fever, it is very important to see a doctor immediately to avoid overwhelming infection and serious life-threatening illness. </p><p>Because of the risks of a total splenectomy, some doctors recommend a partial splenectomy instead, even for children with severe symptoms. In a partial splenectomy only a portion of the spleen is removed. The remaining portion of the spleen will help protect against infections. Your child’s doctor will discuss the risks and benefits of a partial splenectomy.</p><h3>Cholecystectomy</h3><p>The <a href="/Article?contentid=1468&language=English">gallbladder</a> is an organ that stores and releases fluid called bile into the intestine to help with digestion of fats. Bile is partially made up of breakdown products of bilirubin. Because of the high turnover rate of red blood cells in HS, children are at risk of developing gallstones which may cause jaundice, pain, or obstruction or inflammation of the gallbladder. </p><p>If severe symptoms develop, including severe pain or inflammation of the gallbladder, the gallbladder may need to be removed. This surgery is called a cholecystectomy. If your child’s doctor and a surgeon think surgery is necessary, they will discuss the risks and benefits of a cholecystectomy with you. </p><h2>Complications</h2><h3>Illness and aplastic crisis</h3><p>Illness does not usually affect your child’s blood counts. However, some viral illnesses can worsen anemia and increase jaundice. This condition is called an aplastic crisis. <a href="/Article?contentid=756&language=English">Parvovirus</a> is a common virus associated with an aplastic crisis in HS and may cause the following symptoms: </p><ul><li>Significant change in pallor or jaundice</li><li>Lethargy (lack of energy)</li><li>New onset headache (along with other symptoms listed here)</li><li>Light-headed or dizzy</li><li>Shortness of breath with activity</li></ul><p>If you notice any of these signs, take your child to the doctor for a physical examination and a blood count and bilirubin test if needed. It is not necessary to check the blood counts with every illness, only if you or the doctor notice some or all of the above symptoms.</p><h3>Physical activity</h3><p>Generally, people with an enlarged spleen are told by their doctor to limit their activities, particularly contact sports, in order to prevent rupture of the spleen. However, the risk of splenic rupture in a person with HS is thought to be about the same as someone who does not have an enlarged spleen. As a result, your child does not need to restrict physical activity unless specifically instructed by their doctor. </p><h2>When to see a doctor</h2><p>Bring your child to a doctor if you notice the following signs and symptoms:</p><ul><li>Pale skin compared to normal colour</li><li>Low energy (fatigue) </li><li>Increase in yellowing of the skin and whites of the eyes </li></ul><p>See a doctor immediately or go to the emergency department if your child has any of the following symptoms:</p><ul><li>Very pale or worsening jaundice </li><li>Lethargic, inactive or difficult to wake up</li><li>Light-headed or dizzy</li><li>Shortness of breath with activity</li><li>Severe stomach pain</li><li>Headache (in addition to the above symptoms)</li></ul>
Sphérocytose héréditaireSSphérocytose héréditaireHereditary spherocytosisFrenchGeneticsChild (0-12 years);Teen (13-18 years)Gall Bladder;SpleenGallbladderConditions and diseasesAdult (19+) CaregiversNA2019-01-02T05:00:00Z9.5000000000000054.00000000000001694.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Apprenez-en davantage sur la sphérocytose héréditaire, son diagnostic et son traitement en plus des complications possibles pour les personnes qui en souffrent.</p><h2>Qu’est-ce que la sphérocytose héréditaire?</h2><p>La sphérocytose héréditaire (SH) est une maladie génétique du sang qui affecte les globules rouges. Ces cellules contiennent une molécule, l’hémoglobine, qui transporte l’oxygène depuis les poumons vers le reste de l’organisme.</p> <figure class="asset-c-80"> <span class="asset-image-title">Présence de sphérocytes accompagnée de sphérocytose héréditaire</span> <img src="https://assets.aboutkidshealth.ca/akhassets/hereditary_spherocytosis_FR.png" alt="" /> <figcaption class="asset-image-caption">Les globules rouges sont d’ordinaire de forme sphérique et le centre est enfoncé. Cependant, une personne atteinte de sphérocytose héréditaire présente surtout des globules rouges sphériques que l’on appelle sphérocytes. Le cas se produit lorsque l’une des cinq protéines qui contribuent à conserver la forme interne de la cellule, appelée cytosquelette, est défectueuse.</figcaption> </figure> <p>Les globules rouges présentent en général la forme d’un disque dont le centre est enfoncé comme un beigne, mais sans le trou. Chez les sujets malades, la plupart des globules rouges sont circulaires et sphériques. On les appelle sphérocytes. La SH est la forme la plus courante d’anémie hémolytique héréditaire. Par analogie à l’hémolyse, le processus hémolytique est responsable de la destruction des globules rouges. L’<a href="/Article?contentid=841&language=French">anémie</a> se caractérise par le manque d’hémoglobine ou de globules rouges dans l’organisme.</p><h2>À retenir</h2><ul><li>La sphérocytose héréditaire (SH) est une maladie héréditaire du sang qui affecte les globules rouges.</li><li>Les globules rouges malades ont la forme d’une sphère plutôt qu’un beigne et ils sont détruits par la rate à un rythme accéléré.</li><li>Les symptômes de la SH peuvent comprendre l’anémie, la jaunisse et l’hypertrophie de la rate.</li><li>La SH est une maladie chronique, mais il est possible de gérer et de traiter les symptômes.</li><li>Certaines personnes atteintes de la maladie peuvent être soulagées par l’ablation partielle ou totale de la rate. Parlez-en au médecin de votre enfant.</li></ul><h2>Symptômes de la sphérocytose héréditaire</h2><p>Les symptômes courants de la SH sont :</p><ul><li>les symptômes de l’anémie, y compris une peau pâle (pâleur) en comparaison de la coloration habituelle de la peau de votre enfant, peu d’énergie (fatigue) et de l’irritabilité;</li><li>les symptômes de l’ictère, y compris la coloration jaunâtre de la peau et du blanc des yeux;</li><li>l’hypertrophie de la rate (aussi appelée splénomégalie).</li></ul><p>La gravité des symptômes varie d’un enfant à l’autre, mais elle est typiquement la même chez tous les membres d’une même famille qui en souffrent, mais qui peut varier dans certains cas.</p><p>Selon le cas, la SH peut être classée comme étant légère, modérée ou grave.</p><ul><li>Environ 20 à 30 % des personnes atteintes sont des cas légers.</li><li>La plus grande partie des cas (de 60 à 80 %) présente une forme modérée de la maladie.</li><li>Un petit nombre de personnes (de 10 à 20 %) sont atteintes de la forme grave.</li></ul><p>La gravité de la maladie dépend du degré d’anémie qui est déterminé selon les caractéristiques suivantes : </p><ul><li>le taux d’hémoglobine de référence;</li><li>la numération des réticulocytes (globules rouges immatures);</li><li>le taux de bilirubine;</li><li>le volume de la rate (si l’hypertrophie est présente comme dans le cas de la splénomégalie).</li></ul><h2>Causes de la sphérocytose héréditaire</h2><p>C’est un défaut dans la structure interne (cytosquelette) des sphérocytes qui leur confère leur forme sphérique. Chaque cellule du corps est formée d’un cytosquelette qui se compose de protéines spécialisées. Ces protéines sont assemblées en un réseau solide, mais souple qui confère à la cellule sa forme et son élasticité particulières. La SH a pour effet de rendre les cellules plus rigides et moins souples.</p><p>La maladie est caractérisée par le défaut d’une ou de plusieurs des cinq protéines qui composent le cytosquelette. Seuls les globules rouges en subissent les répercussions. Les sphérocytes ne sont pas aussi souples que les globules rouges normaux et ne peuvent se déplacer aussi facilement à l’intérieur de la rate. Ils se font donc piéger et ils sont détruits dans la rate. Bien que ce soit le rôle de la rate de filtrer et de détruire les globules rouges, à cause de la SH, ils sont piégés plus rapidement par la rate que celle-ci peut les détruire. La rate prend donc du volume au fil du temps. Les médecins appellent cette maladie la splénomégalie ou l’hypertrophie de la rate.</p> <figure class="asset-c-80"> <span class="asset-image-title">Splénomégalie (hypertrophie de la rate)</span> <img src="https://assets.aboutkidshealth.ca/akhassets/splenomegaly_FR.jpg" alt="" /> <figcaption class="asset-image-caption">En présence de la maladie, les globules rouges sont captés par la rate plus rapidement qu’elle ne peut les détruire, ce qui a pour effet de la faire grossir.</figcaption> </figure> <h3>Hérédité</h3><p>Dans la plupart des cas, la SH est une maladie héréditaire. Ce qui signifie que les gènes responsables de la SH sont d’ordinaire transmis par l’un ou les deux parents à leurs enfants.</p><p>Afin d’obtenir de plus amples renseignements sur la transmission de la SH, veuillez consulter : <a href="/Article?contentid=3631&language=French">Sphérocytose héréditaire : rôle de l’hérédité</a>.</p><h2>Diagnostic de la sphérocytose héréditaire</h2><p>On peut diagnostiquer la SH à tout âge, soit de l’enfance jusqu’à l’âge adulte. Les bébés et les enfants atteints de la maladie sont habituellement repérés parce qu’ils souffrent de la jaunisse ou sont anémiques.</p><h3>Analyses sanguines</h3><p>Afin de diagnostiquer la maladie, votre enfant devra subir les analyses sanguines suivantes :</p><ul><li>hémogramme complet : ce test permet de faire la numération de différentes cellules dans le sang et celle des globules rouges en particulier afin de déceler l’anémie.</li><li>nombre de réticulocytes : indique la rapidité à laquelle les jeunes globules rouges, appelés réticulocytes, sont produits et libérés par la moelle osseuse.</li><li>frottis sanguin : un échantillon de sang examiné au microscope permet de voir le volume et la forme des cellules sanguines individuelles.</li></ul><p>L’hémogramme complet pourrait indiquer une diminution du taux d’hémoglobine et une augmentation du nombre de réticulocytes. Les personnes atteintes de la SH présentent un plus grand nombre de réticulocytes, car la moelle osseuse produit davantage de globules rouges pour compenser ceux détruits par l’hémolyse. Le frottis sanguin peut indiquer la présence de sphérocytes; ce test est habituellement suffisant pour permettre le diagnostic de la SH, mais des analyses sanguines supplémentaires pourraient se révéler nécessaires.<br></p><h3>Échographie abdominale</h3><p>Il se peut que le médecin de votre enfant prescrive une échographie abdominale une fois qu’il aura atteint l’âge d’aller à l’école (ou plus tôt, au besoin). L’échographie aura pour but de mesurer le volume de la rate et d’indiquer la présence de calculs biliaires dans la vésicule biliaire.</p><h2>Traitement de la sphérocytose héréditaire</h2><p>La SH est un trouble chronique. Le traitement implique habituellement le traitement et la gestion des symptômes de la SH.</p><h3>Photothérapie</h3><p>La <a href="/Article?contentid=775&language=French">jaunisse</a> peut se présenter chez le nouveau-né si ses taux de bilirubine sont trop élevés. La maladie peut exiger un traitement comme la photothérapie qui implique l’exposition de la peau à une lumière bleue spéciale qui modifie la forme de la bilirubine et permet de l’éliminer de l’organisme plus facilement.</p><h3>Transfusion sanguine</h3><p>Dans certains cas, une <a href="/Article?contentid=1107&language=French">transfusion sanguine</a> est requise en cas d’anémie grave. C’est une situation plus courante au cours de la première année de vie du bébé, mais qui peut aller au-delà dans les cas d’anémie grave. La plupart des enfants souffrant de SH n’ont pas besoin de transfusions sanguines régulières.</p><p>Votre médecin décidera si une transfusion sanguine est nécessaire et discutera des risques et des avantages avec vous.</p><h3>Splénectomie</h3><p>Certains enfants atteints de la maladie peuvent être soulagés par l’ablation partielle (splénectomie partielle) ou totale (splénectomie totale) de la rate. On appelle « splénectomie » cette opération.</p><p>Étant donné le rôle important que joue la rate dans la protection contre certaines infections bactériennes, il est préférable de retarder aussi longtemps que possible le moment de procéder à une splénectomie totale. Cette procédure est uniquement effectuée dans les cas où les patients présentent de graves symptômes de la maladie. Un hématologue décidera si la splénectomie s’impose. Un hématologue est un médecin spécialisé dans le diagnostic, le traitement et la prévention des maladies du sang et de la moelle osseuse.</p><p>À la suite d’une splénectomie, l’un des plus importants risques est une grave infection du sang appelée <a href="/Article?contentid=2316&language=French">sepsie</a>. Afin de minimiser le risque d’infection, des vaccins seront administrés à votre enfant (en plus de sa vaccination de routine) avant la splénectomie.</p><p>Des antibiotiques prophylactiques (à titre préventif) lui seront prescrits après l’intervention afin de prévenir les infections potentielles. Votre enfant aura également besoin d’immunisations de rappel au cours des années suivant sa splénectomie. Renseignez-vous auprès de votre médecin afin d’en apprendre davantage sur les vaccins requis.</p><p>Si votre enfant a subi une splénectomie et qu’il a de la fièvre, il est très important de consulter immédiatement un médecin afin d’éviter une infection généralisée et une maladie grave potentiellement mortelle.</p><p>En raison des risques associés à une splénectomie totale, certains médecins optent pour une splénectomie partielle, même dans le cas d’enfants dont les symptômes sont graves. Une splénectomie partielle consiste à n’enlever qu’une partie de la rate. La partie qui reste contribuera à protéger l’enfant contre les infections. Le médecin de votre enfant discutera avec vous des risques et des avantages d’une splénectomie partielle.</p><h3>Cholécystectomie</h3><p>La <a href="/Article?contentid=1468&language=French">vésicule biliaire</a> est un organe qui conserve et libère dans l’intestin un liquide, la bile, afin d’aider à digérer les matières grasses. La bile se compose en partie de produits résultant de la décomposition de la bilirubine. En raison du taux élevé de renouvellement des globules rouges chez les patients atteints de la SH, les enfants sont à risque de produire des calculs biliaires pouvant causer la jaunisse, de la douleur de même que l’obstruction ou l’inflammation de la vésicule biliaire.<br></p><p>Si l’enfant présente des symptômes graves, y compris une forte douleur ou une inflammation de la vésicule, la vésicule biliaire pourrait faire l’objet d’une ablation, appelée cholécystectomie. Si le médecin et le chirurgien croient que l’opération est nécessaire, ils discuteront des risques et des avantages d’une cholécystectomie avec vous.</p><h2>Complications de la sphérocytose héréditaire </h2><h3>Maladie et crise aplasique</h3><p>La SH n’a habituellement aucun effet sur les numérations sanguines de votre enfant. Cependant, quelques maladies virales peuvent aggraver son anémie et sa jaunisse. On appelle ce trouble « crise aplasique ». Le <a href="/Article?contentid=756&language=French">parvovirus</a> est un virus courant qui est associé à la crise aplasique chez les personnes atteintes de SH et elle peut causer les symptômes suivants : </p><ul><li>modification significative de la pâleur ou de la jaunisse;</li><li>léthargie (manque d’énergie);</li><li>apparition soudaine de maux de tête (accompagnés d’autres symptômes présentés ici);</li><li>sensation de vertige ou étourdissements;</li><li>essoufflement provoqué par l’activité.</li></ul><p>Si vous remarquez l’un de ces symptômes chez votre enfant, consultez un médecin qui l’examinera et au besoin, procédera à un hémogramme et à un test de bilirubine. Ce ne sont pas toutes les maladies qui justifient de faire appel à l’hémogramme, mais bien celles pour lesquelles vous ou le médecin remarquez quelques-uns ou tous les symptômes indiqués ci-dessus.</p><h3>Activité physique</h3><p>En général, le médecin conseille aux personnes dont la rate est hypertrophiée de limiter leurs activités, surtout les sports de contact, afin de prévenir la rupture de la rate. En revanche, le risque de rupture chez une personne dont la rate est hypertrophiée est similaire à celui d’une autre personne dont la rate est normale. En conséquence, votre enfant n’a pas besoin de restreindre ses activités physiques, à moins que son médecin lui ait donné d’autres consignes.<br></p><h2>Quand consulter le médecin</h2><p>Consultez un médecin si vous observez les symptômes suivants chez votre enfant :</p><ul><li>pâleur inhabituelle de la peau;</li><li>faible niveau d’énergie (fatigue);</li><li>jaunissement de la peau ou du blanc des yeux.</li></ul><p>Consultez immédiatement un médecin ou rendez-vous sans tarder au service des urgences si votre enfant présente l’un des symptômes suivants :</p><ul><li>peau très pâle ou aggravation de la jaunisse;</li><li>léthargie, inactivité ou difficulté à se réveiller;</li><li>sensation de vertige ou étourdissements;</li><li>essoufflement provoqué par l’activité;</li><li>douleur intense à l’estomac; </li><li>maux de tête (en plus des symptômes ci-dessus).</li></ul>

 

 

 

 

Hereditary spherocytosis3630.00000000000Hereditary spherocytosisHereditary spherocytosisHEnglishGenetics;HaematologyChild (0-12 years);Teen (13-18 years)Gall Bladder;SpleenGallbladderConditions and diseasesAdult (19+) CaregiversNA2019-01-02T05:00:00Z9.5000000000000054.00000000000001694.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Learn about hereditary spherocytosis, how it is diagnosed, treated, and what the potential complications are for people living with the condition.</p><h2>What is hereditary spherocytosis?</h2><p>Hereditary spherocytosis (HS) is a genetic blood disorder of the red blood cells. Red blood cells contain hemoglobin, which is the molecule that carries oxygen from the lungs to the rest of the body.</p><p>Red blood cells are usually shaped like a disk, with a depressed centre, like a donut without a hole. In HS, most red blood cells are circular and shaped like spheres. These are called spherocytes.</p> <figure class="asset-c-80"> <span class="asset-image-title">Spherocytes with hereditary spherocytosis</span> <img src="https://assets.aboutkidshealth.ca/akhassets/hereditary_spherocytosis_EN.png" alt="" /> <figcaption class="asset-image-caption">Red blood cells are usually round with a depressed centre. However, a person with HS will have mostly sphere-shaped red blood cells, called spherocytes. This occurs when there is a defect in one of the five proteins that help to maintain the internal framework of the cell, called the cytoskeleton. </figcaption> </figure> <p>HS is the most common form of inherited hemolytic anemia. “Hemolytic” refers to hemolysis, which is the breakdown of the red blood cells. <a href="/Article?contentid=841&language=English">Anemia</a> is a lack of either hemoglobin or red blood cells in the body.</p><h2>Key points</h2><ul><li>Hereditary spherocytosis (HS) is an inherited blood disorder of the red blood cells.</li><li>Red blood cells in HS are round rather than donut shaped and are destroyed in the spleen at an increased rate.</li><li>Symptoms of HS may include anemia, jaundice and an enlarged spleen.</li><li>HS is a lifelong condition but symptoms can be managed and treated.</li><li>Some people may benefit from having a portion, or all, of the spleen surgically removed. Discuss your options with your child’s doctor.</li></ul><h2>Signs and symptoms of hereditary spherocytosis<br></h2><p>Common signs and symptoms of HS include:</p><ul><li>symptoms of anemia including pale skin (pallor) compared to your child’s normal colour, low energy (fatigue), irritability</li><li>signs of jaundice including yellowing of the skin and the whites of the eyes</li><li>enlarged spleen (also known as splenomegaly)</li></ul><p>The severity of symptoms varies from one child to another but is typically the same among affected family members. However, this may vary in some cases. </p><p>HS can be categorized as mild, moderate or severe.</p><ul><li>About 20-30% of people with HS have a mild form.</li><li>The majority (60-80%) of people with HS have a moderate form.</li><li>A small number of people with HS (10-20%) have a severe form of HS. </li></ul><p>The severity of the disease depends on the degree of anemia. This is based on your child’s:</p><ul><li>baseline (typical) hemoglobin level </li><li>reticulocyte count (immature red blood cells) </li><li>bilirubin level </li><li>spleen size (if the spleen is enlarged i.e. splenomegaly)</li></ul><h2>Causes of hereditary spherocytosis</h2><p>Spherocytes are round because they have a defect in the internal framework, called the cytoskeleton. Every cell in the body has a cytoskeleton, which is made of specialized proteins. These proteins assemble neatly in a sturdy but flexible network that gives each cell their particular shape and elasticity. Due to the defect in HS, the cells become more rigid and less flexible.</p><p>In HS, there is a defect in one or more of the five proteins of the cytoskeleton. This defect impacts only the red blood cells. Spherocytes are not as flexible as normal red blood cells and cannot move through the spleen as easily. This causes the spherocytes to be trapped and destroyed in the spleen. Although it is part of the spleen’s job to filter and destroy red blood cells, in HS red blood cells become trapped faster than the spleen can destroy them. This causes the spleen to grow bigger (enlarged) over time. Doctors may refer to an enlarged spleen as splenomegaly. </p> <figure class="asset-c-80"><span class="asset-image-title">Splenomegaly (enlarged spleen)</span><img src="https://assets.aboutkidshealth.ca/akhassets/splenomegaly_EN.jpg" alt="" /><figcaption class="asset-image-caption">In hereditary spherocytosis, red blood cells become trapped in the spleen faster than the spleen can destroy them. As a result, the spleen grows larger.</figcaption> </figure> <p>As a result of this constant breakdown (hemolysis), the contents of red blood cells are released. This creates the following health issues:</p><ul><li>Anemia (low hemoglobin)</li><li>Jaundice; when hemoglobin is broken down, it forms bilirubin that can cause the skin and whites of the eyes to appear yellow</li><li>Gallstones can develop because of increased red blood cell turn over</li></ul><h3>Inheritance</h3><p>In most cases, HS is an inherited genetic condition, which means that the genes involved in HS are typically passed down from one or both parents to their children.</p><p>For more information on how HS is inherited, please see <a href="/Article?contentid=3631&language=English">Hereditary spherocytosis: Genetics</a>.</p><h2>Diagnosis of hereditary spherocytosis</h2><p>HS can be diagnosed at any age from infancy or childhood to adulthood. Babies and children with HS are usually diagnosed because they appear jaundiced and/or anemic.</p><h3>Blood tests</h3><p>To diagnose HS, your child will need the following blood tests:</p><ul><li>Complete blood count (CBC): a CBC measures the number of different cells in the blood and measures the number of red blood cells to test for anemia.</li><li>Reticulocyte count: indicates how quickly young red blood cells, called reticulocytes, are being produced and released from the bone marrow. </li><li>Blood smear: a blood sample is examined under a microscope to see the size and shape of individual blood cells. </li></ul><p>The CBC may show a decrease in the hemoglobin and an increased reticulocyte count. People with HS have an increased number of reticulocytes because the bone marrow is producing more red blood cells to compensate for the hemolysis. The blood smear may show spherocytes.</p><p>A blood smear is usually enough to diagnose HS, however additional blood tests may be needed.</p><h3>Abdominal ultrasound</h3><p>Your child’s doctor may order an abdominal ultrasound once your child reaches school age (or earlier, if necessary). The abdominal ultrasound will help measure the size of the spleen and show if there are gallstones in the gallbladder. </p><h2>Treatment of hereditary spherocytosis</h2><p>HS is a lifelong condition. Treatment usually involves treating and managing the symptoms of HS. </p><h3>Phototherapy</h3><p><a href="/Article?contentid=775&language=English">Jaundice</a> can be a problem in the newborn period if the bilirubin levels are too high and may require treatment, such as phototherapy. Phototherapy involves exposing the skin to a special blue light that changes bilirubin to a form that can be passed out of the body more easily. </p><h3>Blood transfusion</h3><p>In some cases, a <a href="/Article?contentid=1107&language=English">blood transfusion</a> is required for severe anemia. This is most common in the first year of life but may be ongoing if the anemia is severe. Most children with HS do not need blood transfusions on a regular basis.</p><p>Your child’s doctor will decide if a blood transfusion is needed and will discuss the risks and benefits with you.</p><h3>Splenectomy</h3><p>Some children with HS may benefit from having a portion (partial splenectomy), or all (full splenectomy), of their spleen removed. This surgery is called a splenectomy.</p><p>The spleen plays an important role in protecting the body from certain bacterial infections, thus it is best to delay a total splenectomy as long as possible. Total splenectomy is only done in cases where patients have severe symptoms from HS. A hematologist will determine if a splenectomy is necessary. A hematologist is a physician who specializes in diagnosing, treating and preventing blood and bone marrow diseases.</p><p>One of the major risks following a total splenectomy is a serious blood infection called <a href="/Article?contentid=2316&language=English">sepsis</a>. To minimize the risk of infection, your child will be given vaccinations (in addition to their routine vaccines) before the splenectomy.</p><p>After the splenectomy prophylactic (preventative) antibiotics will be prescribed to help prevent potential infections. Your child will also require booster immunizations in the years following a splenectomy. Talk to your child’s doctor to learn which immunizations will be required.</p><p>If your child has had a splenectomy and develops a fever, it is very important to see a doctor immediately to avoid overwhelming infection and serious life-threatening illness. </p><p>Because of the risks of a total splenectomy, some doctors recommend a partial splenectomy instead, even for children with severe symptoms. In a partial splenectomy only a portion of the spleen is removed. The remaining portion of the spleen will help protect against infections. Your child’s doctor will discuss the risks and benefits of a partial splenectomy.</p><h3>Cholecystectomy</h3><p>The <a href="/Article?contentid=1468&language=English">gallbladder</a> is an organ that stores and releases fluid called bile into the intestine to help with digestion of fats. Bile is partially made up of breakdown products of bilirubin. Because of the high turnover rate of red blood cells in HS, children are at risk of developing gallstones which may cause jaundice, pain, or obstruction or inflammation of the gallbladder. </p><p>If severe symptoms develop, including severe pain or inflammation of the gallbladder, the gallbladder may need to be removed. This surgery is called a cholecystectomy. If your child’s doctor and a surgeon think surgery is necessary, they will discuss the risks and benefits of a cholecystectomy with you. </p><h2>Complications</h2><h3>Illness and aplastic crisis</h3><p>Illness does not usually affect your child’s blood counts. However, some viral illnesses can worsen anemia and increase jaundice. This condition is called an aplastic crisis. <a href="/Article?contentid=756&language=English">Parvovirus</a> is a common virus associated with an aplastic crisis in HS and may cause the following symptoms: </p><ul><li>Significant change in pallor or jaundice</li><li>Lethargy (lack of energy)</li><li>New onset headache (along with other symptoms listed here)</li><li>Light-headed or dizzy</li><li>Shortness of breath with activity</li></ul><p>If you notice any of these signs, take your child to the doctor for a physical examination and a blood count and bilirubin test if needed. It is not necessary to check the blood counts with every illness, only if you or the doctor notice some or all of the above symptoms.</p><h3>Physical activity</h3><p>Generally, people with an enlarged spleen are told by their doctor to limit their activities, particularly contact sports, in order to prevent rupture of the spleen. However, the risk of splenic rupture in a person with HS is thought to be about the same as someone who does not have an enlarged spleen. As a result, your child does not need to restrict physical activity unless specifically instructed by their doctor. </p><h2>When to see a doctor</h2><p>Bring your child to a doctor if you notice the following signs and symptoms:</p><ul><li>Pale skin compared to normal colour</li><li>Low energy (fatigue) </li><li>Increase in yellowing of the skin and whites of the eyes </li></ul><p>See a doctor immediately or go to the emergency department if your child has any of the following symptoms:</p><ul><li>Very pale or worsening jaundice </li><li>Lethargic, inactive or difficult to wake up</li><li>Light-headed or dizzy</li><li>Shortness of breath with activity</li><li>Severe stomach pain</li><li>Headache (in addition to the above symptoms)</li></ul>https://assets.aboutkidshealth.ca/akhassets/hereditary_spherocytosis_EN.pngHereditary spherocytosisFalse