HemophiliaHHemophiliaHemophiliaEnglishHaematologyChild (0-12 years);Teen (13-18 years)BodyCardiovascular systemConditions and diseasesCaregivers Adult (19+)NA2014-02-13T05:00:00ZVanessa Bouskill, MN, RN(EC)10.000000000000053.00000000000001231.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Learn about the different types of hemophilia, how it is inherited and how it is diagnosed and treated.</p><h2>What is hemophilia?</h2><p>Hemophilia is a rare inherited condition that affects the blood's ability to clot effectively. The process of blood clotting helps the body with wound healing and repair. When a healthy person gets a cut, a type of cell in the blood called platelets stick to the wound to try to plug the cut. The platelets release chemical signals calling for help from other platelets and special proteins in the blood called clotting factors. These clotting factors bind together to form chains, called "fibrin". The fibrin forms a net around the platelets preventing them from going back into the bloodstream and holds the clot together to help seal the wound.</p><p>There are many different clotting factors, and each one is needed for the fibrin net to form properly. They work together.In most people with hemophilia, levels of either clotting factor VIII (8) or IX (9) are too low so the clotting process slows.</p><p>This does not mean that when injured a person with hemophilia will bleed more quickly than a person without hemophilia; they <em>will</em>, however, bleed for a longer period of time.</p> ​<h2>Key points</h2> <ul> <li>People with hemophilia can live happy and normal lives with the support of a comprehensive health care team.</li> <li>Hemophilia is a lifelong condition that is passed down from parents to children.</li> <li>Hemophilia affects mostly boys. Girls are usually carriers.</li> <li>Severity of hemophilia can vary, and thus treatments do as well. Options will be discussed between you and your child's comprehensive care team.</li> </ul><h2>Symptoms of hemophilia</h2> <p>If your child is experiencing any of the following symptoms, you should talk to your doctor about the possibility that your child might have hemophilia:</p> <ul> <li>prolonged bleeding after circumcision</li> <li>easy bruising</li> <li>joint and muscle swelling</li> <li>prolonged bleeding after cuts, surgery, bloodwork or dental procedures</li> <li>mouth bleeds</li> </ul> <p>Symptoms depend on the severity of hemophilia. The severity of hemophilia depends on the levels of clotting factors in the blood.</p> <p>For mild hemophilia, children typically do not have symptoms for many years. They may have prolonged bleeding after surgery, trauma or dental procedures, such as pulling a tooth.</p> <p>For moderate hemophilia, children may bruise easily or may have internal bleeding in their joints especially after a fall/trauma.</p> <p>For severe hemophilia, the symptoms are similar to children with moderate hemophilia except that bleeding is more frequent and more severe. They may have bleeding for no apparent reason in the joints, muscles or internally. Without treatment, people with severe hemophilia can develop serious internal bleeding and long term joint damage from bleeds.</p><h2>How is hemophilia inherited?</h2><p>Most often, hemophilia is an inherited condition. This means that it is passed from parents to their children. Hemophilia is caused when there is a mutation, "a mix-up", in one of the genes on the X chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. For this reason, males and females are affected differently. If a person has at least one normal gene, they will not have hemophilia.</p> <figure><img src="https://assets.aboutkidshealth.ca/akhassets/Hemophilia_genetics_MED_ILL_EN.jpg" alt="" /> </figure> <p>Mothers with the hemophilia gene can pass it on to either their sons or daughters. Their sons may have hemophilia, and their daughters may be carriers, but their children could also be unaffected. There is 50% chance of having a boy with hemophilia if the mother is a carrier, and 50% chance of having a girl who is a carrier.</p> <figure><img src="https://assets.aboutkidshealth.ca/akhassets/Hemophilia_genetics2_MED_ILL_EN.jpg" alt="" /> </figure> <p>Fathers with hemophilia will not have sons with hemophilia. However, their daughters will always be carriers.</p><h2>How does the hemophilia gene affect males and females differently?</h2><p>Hemophilia most often affects males; females may be carriers of the condition.</p><h3>Females</h3><p>If a female has the hemophilia gene on one of her X chromosomes, she will either not be affected or will experience only very mild bleeding symptoms, such as heavier periods. She would be a "carrier", meaning that while she is not affected, but she could pass hemophilia to her son. For a female to have hemophilia, she must receive the hemophilia gene from both parents.</p><h3>Males</h3><p>Males have only one X chromosome, and therefore only require one X chromosome with the hemophilia gene to have the condition. Males can only get the X chromosome from their mother. Their father always passes on the Y chromosome.</p><h2>Diagnosis of hemophilia</h2> <h3>Before birth</h3> <p>If you know that hemophilia runs in your family, you might choose to have your baby tested while it is still in the womb (prenatal testing). If prenatal testing is not completed but the woman is carrying a male fetus it is best to assume that the child has hemophilia and to take appropriate steps during the birthing.</p> <h3>After birth</h3> <p>In cases where there is no known family history of hemophilia, it may not be diagnosed until parents begin to notice bleeding symptoms. A blood test can confirm the diagnosis of hemophilia as well as how severe it is and whether it is hemophilia A or B.</p><h2>Treatment of hemophilia</h2><p>Hemophilia is a lifelong condition that will require regular care. There are several treatment methods for hemophilia. The method and timing of treatment chosen will depend on the type and severity of your child's hemophilia, and will be discussed with their health care team.</p><h3>On demand treatment</h3><p>If your child has mild hemophilia, or bleeds infrequently, their health care team may choose to give them a dose of clotting factor only when an injury occurs.</p><h3>Prophylaxis (or preventative treatment)</h3><p>If your child has severe hemophilia, or has severe bleeds often, they may need clotting factor on a regular basis to prevent bleeds from happening. Regularity of dose may be anywhere from once a day to weekly.</p><h2>Treatments by type</h2><table class="akh-table"><thead><tr><th>Type of hemophilia</th><th>Treatment options</th></tr></thead><tbody><tr><td>Hemophilia A</td><td><ul><li>Factor VIII (FVIII) concentrate injected directly into a vein through an intravenous infusion.</li><li>People with milder forms of hemophilia can take a synthetic (man-made) hormone, DDAVP, which triggers the body to release factor VIII.</li></ul></td></tr><tr><td>Hemophilia B</td><td><ul><li>Factor IX (FIX) concentrate injected directly into a vein through an intravenous infusion.</li></ul></td></tr></tbody></table><h3>Desmopressin (DDAVP)</h3><p>People with mild or moderate hemophilia A might be treated with a medication called <a href="/Article?contentid=122&language=English">Desmopressin</a> (DDAVP) for mild to moderate bleeds. DDAVP is a chemical that helps to release factor VIII that is already stored in the body. Before using this method, your child's health care team will perform a "DDAVP Challenge". This is a test that will allow them to see if the use of DDAVP releases enough factor VIII in your child's body to prevent and treat bleeds. Treatment of hemophilia with DDAVP is not recommended until your child is at least three years of age.</p><h2>Hemophilia comprehensive health-care team</h2><p>There is excellent medical treatment for people with hemophilia. You and your child can look forward to living complete, happy and normal lives with the support of a comprehensive team of health care specialists. This team will include a nurse coordinator, hematologist (blood doctor), physiotherapist, and social worker.</p>
HémophilieHHémophilieHemophiliaFrenchHaematologyChild (0-12 years);Teen (13-18 years)BodyCardiovascular systemConditions and diseasesCaregivers Adult (19+)NA2014-02-13T05:00:00ZVanessa Bouskill, MN, RN(EC)10.000000000000053.00000000000001231.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Cette page présente des renseignements de base sur l’hémophilie.</p><h2>En quoi consiste l’hémophilie?</h2><p>L’hémophilie est une maladie héréditaire rare qui empêche le sang de coaguler normalement. Dans l’organisme, le mécanisme de coagulation sanguine participe à la guérison des plaies et au rétablissement des tissus. Quand une personne en santé se coupe, un type de cellules présentes dans le sang portant le nom de plaquettes s’agglomèrent entre elles sur la plaie pour tenter de la boucher. Les plaquettes, en émettant des signaux chimiques, attirent d’autres plaquettes et des protéines sanguines particulières nommées « facteurs de coagulation ». Celles-ci se fixent ensuite les unes aux autres pour former des chaînes appelées « fibrines ». Les fibrines forment un maillage qui emprisonne les plaquettes pour les empêcher d’être remises en circulation dans le sang et enserrent le caillot pour faciliter l'obturation de la plaie.</p><p>Il existe de nombreux facteurs de coagulation distincts dont chacun est essentiel à la formation appropriée du maillage des fibrines. Les facteurs de coagulation réagissent en cascade de façon coordonnée, c’est-à-dire que chacun compte sur la réaction du précédent pour intervenir dans la coagulation. Chez la plupart des hémophiles, les taux des facteurs de coagulation VIII (8) ou IX (9) sont trop faibles de sorte que la réaction en cascade est interrompue, ce qui met fin à la coagulation. </p><p>Cela ne veut pas dire que lorsqu’une personne atteinte d’hémophilie se blesse, le sang commencera à couler de la lésion plus rapidement ou plus profusément que chez une personne qui n’en souffre pas. Toutefois, la lésion de l’hémophile saignera plus longtemps.</p><h2>À retenir</h2> <ul> <li>Les hémophiles peuvent avoir une vie heureuse et normale avec le soutien d’une équipe de spécialistes offrant des soins de santé intégrés.</li> <li>Ce sont principalement les garçons qui sont atteints d’hémophilie. Les filles sont habituellement porteuses de la maladie.</li> <li>L’hémophilie est une maladie permanente qui est transmise des parents aux enfants.</li> <li>Les traitements de l’hémophilie varient selon le degré de sévérité de l’hémophilie. Vous discuterez des possibilités de traitements avec l’équipe de soins de santé intégrés de votre enfant.</li> </ul><h2>Symptômes de l’hémophilie</h2> <p>Si votre enfant manifeste l’un ou l’autre des symptômes suivants, vous devriez parlez à votre médecin de la possibilité qu’il soit atteint d’hémophilie:</p> <ul> <li>saignement prolongé suivant la circoncision</li> <li>tendance aux ecchymoses (bleus)</li> <li>nflure articulaire et musculaire</li> <li>saignement prolongé des plaies suivant une blessure, une chirurgie ou une intervention dentaire ainsi que par suite de prélèvements sanguins</li> <li>saignement de la bouche</li> </ul> <p>Les symptômes varient selon la sévérité de la maladie. Le degré de sévérité de l’hémophilie est fonction des taux de facteurs de coagulation dans le sang.</p><h2>Comment l’hémophilie est-elle transmise par hérédité?</h2><p>La plupart des cas d’hémophilie sont d’origine héréditaire, ce qui veut dire que la maladie est transmise par les parents à leurs enfants. L’hémophilie est causée par une anomalie appelée mutation de l’un des gènes sur le chromosome X. Les femmes ont deux chromosomes X tandis que les hommes ont un chromosome X et un chromosome Y, ce qui explique pourquoi l’hémophilie se manifeste différemment chez les deux sexes. Une personne possédant au moins un gène normal ne sera pas atteint de la maladie.</p> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Hemophilia_genetics_MED_ILL_FR.jpg" alt="" /> </figure> <p>Les mères portant le gène de l’hémophilie peuvent le transmettre à leurs fils ou à leurs filles. Leurs fils peuvent êtres hémophiles et leurs filles porteuses de la maladie, mais il est aussi possible qu’aucun de leurs enfants ne souffrira d’hémophilie.</p> <figure> <img src="https://assets.aboutkidshealth.ca/akhassets/Hemophilia_genetics2_MED_ILL_FR.jpg" alt="" /> </figure> <p>Les pères hémophiles ne peuvent pas avoir de fils hémophiles, mais leurs filles seront invariablement porteuses de l’affection.</p><h2>De quell​e façon l’hémophilie se distingue-t-elle chez les hommes et les femmes?</h2><p>L’hémophilie touche plus souvent les hommes. Les femmes peuvent en être porteuses. </p><h3>Femmes</h3><p>Si l’un des deux chromosomes X d’une femme porte le gène de l’hémophilie, cette dernière ne sera pas hémophile ou n’éprouvera que de très faibles saignements comme des règles plus abondantes. Elle sera « porteuse » de la maladie, ce qui veut dire que, même si elle n’est pas atteinte d’hémophilie, elle peut transmettre cette maladie à ses fils. Pour qu’une femme soit atteinte d’hémophilie, ses deux parents doivent lui en transmettre le gène.</p><h3>Hommes</h3><p>Comme les hommes ne possèdent qu’un chromosome X, ils ne doivent présenter qu’un seul chromosome X portant le gène de l’hémophilie pour être atteint. Chez les hommes, le chromosome X ne peut être transmis que par la mère et le chromosome Y que par le père.</p><h2>Diag​nostic d’hémophilie</h2> <h3>Diagnostic préna​tal</h3> <p>Si vous savez que l’hémophilie est de famille, vous pourriez décider de demander un dépistage pendant la grossesse. Ce test prénatal est réalisé pour veiller à la sécurité du bébé pendant l’accouchement.</p> <h3>Après la na​issance</h3> <p>Dans les cas ne présentant aucun antécédent familial connu, l’hémophilie chez un enfant ne sera peut-être pas diagnostiquée avant que les parents commencent à observer des symptômes de saignement. Une analyse de sang peut permettre de confirmer un diagnostic d’hémophilie de même que son degré de sévérité et de déterminer s’il s’agit de la forme A ou B de la maladie.</p><h2>Traitem​ent de l’hémophilie</h2> <p>L’hémophilie est une maladie permanente exigeant des traitements réguliers. Il existe différentes méthodes de traitement. Pour votre enfant, la méthode et le calendrier de traitement varieront selon le type et la sévérité de l’hémophilie dont il est atteint, ce dont vous discuterez avec l’équipe médicale.</p> <h3>Traitement po​nctuel</h3> <p>Si votre enfant est atteint d’hémophilie mineure ou s’il présente des saignements peu fréquents, vous pourriez lui administrer une dose de facteur de coagulation uniquement quand il se blesse.</p> <h3>Traite​ment prophylactique (préventif)</h3> <p>Si votre enfant souffre d’hémophilie sévère et qu’il est très actif ou présente de fréquents saignements graves, il pourrait avoir régulièrement besoin de facteurs de coagulation comme traitement préventif. Dans de telles situations, la fréquence des doses peut varier d’une fois par jour à une fois par semaine.</p> <h2>Possibilités de traitement selon le type l’hémophilie</h2> <table class="akh-table"> <thead> <tr><th>Type de l’hémophilie</th><th>Possibilités de traitement selon le type l’hémophilie</th></tr> </thead> <tbody> <tr> <td>Hémophilie A</td> <td><ul> <li>Concentré de facteur VIII (FVIII) administré directement dans la veine par infusion intraveineuse.</li> <li>Les personnes présentant des formes plus légères d’hémophilie peuvent prendre l’hormone synthétique (produite artificiellement) DDAVP qui déclenche la libération de facteurs par l’organisme.</li> </ul></td> </tr> <tr> <td>Hémophilie B</td> <td><ul> <li>Concentré de facteur IX (FIX) administré directement dans la veine par infusion intraveineuse.</li> </ul></td> </tr> </tbody> </table> <h3>Desmopressin​e (DDAVP)</h3> <p>Les personnes présentant des formes mineure et modérée d’hémophilie pourraient être traitées à l’aide d’un médicament appelé desmopressine (DDAVP) dans le cas de saignements légers à modérés. La DDAVP est une substance chimique qui favorise la libération de facteurs VIII déjà emmagasinés dans l’organisme. Avant d’administrer de la DDAVP à votre enfant, l’équipe médicale lui fera subir un « test à la DDAVP ». Ce test permettra à l’équipe de déterminer si l’administration de la DDAVP permet à l’organisme de votre enfant de libérer assez de facteurs VIII pour prévenir et traiter les saignements. Le traitement de l’hémophilie à l’aide de la DDAVP n’est pas recommandé avant que votre enfant soit âgé d’au moins trois ans.</p> <h2>Équipe de soins intégré​s des hémophiles</h2> <p>Il existe d’excellents traitements médicaux pour les hémophiles. Vous et votre enfant pourrez profiter d’une vie heureuse, normale et bien remplie grâce au soutien d’une équipe de spécialistes offrant des soins de santé intégrés. L’équipe comprendra un coordonnateur du personnel infirmier, un hématologue (médecin spécialiste du sang), un physiothérapeute et un travailleur social.</p>

 

 

Hemophilia844.000000000000HemophiliaHemophiliaHEnglishHaematologyChild (0-12 years);Teen (13-18 years)BodyCardiovascular systemConditions and diseasesCaregivers Adult (19+)NA2014-02-13T05:00:00ZVanessa Bouskill, MN, RN(EC)10.000000000000053.00000000000001231.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Learn about the different types of hemophilia, how it is inherited and how it is diagnosed and treated.</p><h2>What is hemophilia?</h2><p>Hemophilia is a rare inherited condition that affects the blood's ability to clot effectively. The process of blood clotting helps the body with wound healing and repair. When a healthy person gets a cut, a type of cell in the blood called platelets stick to the wound to try to plug the cut. The platelets release chemical signals calling for help from other platelets and special proteins in the blood called clotting factors. These clotting factors bind together to form chains, called "fibrin". The fibrin forms a net around the platelets preventing them from going back into the bloodstream and holds the clot together to help seal the wound.</p><p>There are many different clotting factors, and each one is needed for the fibrin net to form properly. They work together.In most people with hemophilia, levels of either clotting factor VIII (8) or IX (9) are too low so the clotting process slows.</p><p>This does not mean that when injured a person with hemophilia will bleed more quickly than a person without hemophilia; they <em>will</em>, however, bleed for a longer period of time.</p> ​<h2>Different types of hemophilia</h2> <p><em>Hemophilia A</em> - there is a low level or absent level of clotting factor VIII. This is the most common type of hemophilia, affecting about 80% of people with hemophilia.</p> <p><em>Hemophilia B</em> - there is a low level or absent level of clotting factor IX. Only about 20% of people with hemophilia have this type.</p> <table class="akh-table"> <thead> <tr><th>Severity of hemophilia</th><th>Percentage of clotting factor in the blood</th></tr> </thead> <tbody> <tr> <td>Mild</td> <td>Greater than 5% up to 40%</td> </tr> <tr> <td>Moderate</td> <td>Between 1% to 5%</td> </tr> <tr> <td>Severe</td> <td>Less than 1%</td> </tr> </tbody> </table><h2>Key points</h2> <ul> <li>People with hemophilia can live happy and normal lives with the support of a comprehensive health care team.</li> <li>Hemophilia is a lifelong condition that is passed down from parents to children.</li> <li>Hemophilia affects mostly boys. Girls are usually carriers.</li> <li>Severity of hemophilia can vary, and thus treatments do as well. Options will be discussed between you and your child's comprehensive care team.</li> </ul><h2>Symptoms of hemophilia</h2> <p>If your child is experiencing any of the following symptoms, you should talk to your doctor about the possibility that your child might have hemophilia:</p> <ul> <li>prolonged bleeding after circumcision</li> <li>easy bruising</li> <li>joint and muscle swelling</li> <li>prolonged bleeding after cuts, surgery, bloodwork or dental procedures</li> <li>mouth bleeds</li> </ul> <p>Symptoms depend on the severity of hemophilia. The severity of hemophilia depends on the levels of clotting factors in the blood.</p> <p>For mild hemophilia, children typically do not have symptoms for many years. They may have prolonged bleeding after surgery, trauma or dental procedures, such as pulling a tooth.</p> <p>For moderate hemophilia, children may bruise easily or may have internal bleeding in their joints especially after a fall/trauma.</p> <p>For severe hemophilia, the symptoms are similar to children with moderate hemophilia except that bleeding is more frequent and more severe. They may have bleeding for no apparent reason in the joints, muscles or internally. Without treatment, people with severe hemophilia can develop serious internal bleeding and long term joint damage from bleeds.</p><h2>How is hemophilia inherited?</h2><p>Most often, hemophilia is an inherited condition. This means that it is passed from parents to their children. Hemophilia is caused when there is a mutation, "a mix-up", in one of the genes on the X chromosome. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. For this reason, males and females are affected differently. If a person has at least one normal gene, they will not have hemophilia.</p> <figure><img src="https://assets.aboutkidshealth.ca/akhassets/Hemophilia_genetics_MED_ILL_EN.jpg" alt="" /> </figure> <p>Mothers with the hemophilia gene can pass it on to either their sons or daughters. Their sons may have hemophilia, and their daughters may be carriers, but their children could also be unaffected. There is 50% chance of having a boy with hemophilia if the mother is a carrier, and 50% chance of having a girl who is a carrier.</p> <figure><img src="https://assets.aboutkidshealth.ca/akhassets/Hemophilia_genetics2_MED_ILL_EN.jpg" alt="" /> </figure> <p>Fathers with hemophilia will not have sons with hemophilia. However, their daughters will always be carriers.</p><h2>How does the hemophilia gene affect males and females differently?</h2><p>Hemophilia most often affects males; females may be carriers of the condition.</p><h3>Females</h3><p>If a female has the hemophilia gene on one of her X chromosomes, she will either not be affected or will experience only very mild bleeding symptoms, such as heavier periods. She would be a "carrier", meaning that while she is not affected, but she could pass hemophilia to her son. For a female to have hemophilia, she must receive the hemophilia gene from both parents.</p><h3>Males</h3><p>Males have only one X chromosome, and therefore only require one X chromosome with the hemophilia gene to have the condition. Males can only get the X chromosome from their mother. Their father always passes on the Y chromosome.</p><h2>Diagnosis of hemophilia</h2> <h3>Before birth</h3> <p>If you know that hemophilia runs in your family, you might choose to have your baby tested while it is still in the womb (prenatal testing). If prenatal testing is not completed but the woman is carrying a male fetus it is best to assume that the child has hemophilia and to take appropriate steps during the birthing.</p> <h3>After birth</h3> <p>In cases where there is no known family history of hemophilia, it may not be diagnosed until parents begin to notice bleeding symptoms. A blood test can confirm the diagnosis of hemophilia as well as how severe it is and whether it is hemophilia A or B.</p><h2>Treatment of hemophilia</h2><p>Hemophilia is a lifelong condition that will require regular care. There are several treatment methods for hemophilia. The method and timing of treatment chosen will depend on the type and severity of your child's hemophilia, and will be discussed with their health care team.</p><h3>On demand treatment</h3><p>If your child has mild hemophilia, or bleeds infrequently, their health care team may choose to give them a dose of clotting factor only when an injury occurs.</p><h3>Prophylaxis (or preventative treatment)</h3><p>If your child has severe hemophilia, or has severe bleeds often, they may need clotting factor on a regular basis to prevent bleeds from happening. Regularity of dose may be anywhere from once a day to weekly.</p><h2>Treatments by type</h2><table class="akh-table"><thead><tr><th>Type of hemophilia</th><th>Treatment options</th></tr></thead><tbody><tr><td>Hemophilia A</td><td><ul><li>Factor VIII (FVIII) concentrate injected directly into a vein through an intravenous infusion.</li><li>People with milder forms of hemophilia can take a synthetic (man-made) hormone, DDAVP, which triggers the body to release factor VIII.</li></ul></td></tr><tr><td>Hemophilia B</td><td><ul><li>Factor IX (FIX) concentrate injected directly into a vein through an intravenous infusion.</li></ul></td></tr></tbody></table><h3>Desmopressin (DDAVP)</h3><p>People with mild or moderate hemophilia A might be treated with a medication called <a href="/Article?contentid=122&language=English">Desmopressin</a> (DDAVP) for mild to moderate bleeds. DDAVP is a chemical that helps to release factor VIII that is already stored in the body. Before using this method, your child's health care team will perform a "DDAVP Challenge". This is a test that will allow them to see if the use of DDAVP releases enough factor VIII in your child's body to prevent and treat bleeds. Treatment of hemophilia with DDAVP is not recommended until your child is at least three years of age.</p><h2>Hemophilia comprehensive health-care team</h2><p>There is excellent medical treatment for people with hemophilia. You and your child can look forward to living complete, happy and normal lives with the support of a comprehensive team of health care specialists. This team will include a nurse coordinator, hematologist (blood doctor), physiotherapist, and social worker.</p>https://assets.aboutkidshealth.ca/AKHAssets/hemophilia.jpgHemophilia

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