Hereditary Spherocytosis enparentshttps://kidshealth.org/EN/images/headers/KH_generic_header_04_2.jpgHereditary spherocytosis is an inherited blood disorder. Treatments can help with symptoms.anemia, blood cells, red blood cells, RBCs, folate, blood disorder, hereditary spherocytosis, spherocytosis, spherocytes, hemolytic anemia, hemolytic, hemolysis, bilirubin, jaundice, jaundiced, yellow skin, gallstones, gallbladder, spleen, aplastic crisis, genetic, inherited, blood problems, blood transfusion, phototherapy, exchange transfusion07/19/201912/03/201912/03/2019Robin E. Miller, MD07/15/2019bed62c20-71ec-44e8-a6ff-50ee975e58echttps://kidshealth.org/ws/RadyChildrens/en/parents/hereditary-spherocytosis.html/<h3>What Is Hereditary Spherocytosis?</h3> <p>Hereditary spherocytosis is an inherited <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/blood.html/">blood</a> disorder. It happens because of a problem with the red blood cells (RBCs). Instead of being shaped like a disk, the cells are round like a sphere.</p> <p>These red blood cells (called <strong>spherocytes</strong>) are more fragile than disk-shaped RBCs. They break down faster and more easily than normal RBCs. This breakdown leads to <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/anemia.html/">anemia</a> (not enough RBCs in the body) and other medical problems. Anemia caused by breaking down of RBCs is called <strong><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/anemia-hemolytic.html/">hemolytic anemia</a></strong>.</p> <p>Symptoms may range from mild to severe. Treatments can help with symptoms.</p> <p><img class="center_this" title="Diagram showing a normal red blood cell shaped like a disc. The diagram also shows a red blood cell in someone who has hereditary spherocytosis. This blood cell is shaped like a sphere" src="https://kidshealth.org/EN/images/illustrations/spherocytosis_a_enIL.jpg" alt="Diagram showing a normal red blood cell shaped like a disc. The diagram also shows a red blood cell in someone who has hereditary spherocytosis. This blood cell is shaped like a sphere" /></p> <h3>What Are the Signs &amp; Symptoms of Hereditary Spherocytosis?</h3> <p>Symptoms of hereditary spherocytosis (sfir-oh-sye-TOE-sis) can vary and start at any age. Most people with the condition have a mild to moderate anemia. Anemia can cause:</p> <ul> <li>pale skin</li> <li>tiredness</li> <li>a fast heartbeat</li> <li>shortness of breath</li> <li>growth problems</li> </ul> <p>When RBCs break down, they release a colored substance called <strong>bilirubin</strong>. Many RBCs break down in hereditary spherocytosis, so there's more bilirubin in the body than normal. The higher level of bilirubin can lead to:</p> <ul> <li>yellowing of the whites of the eyes and skin, called jaundice </li> <li>gallstones</li> </ul> <p>Some people also might have:</p> <ul> <li>low folate levels because the body uses more of it than usual to replace the broken down RBCs</li> <li>an enlarged <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/spleen-lymphatic.html/">spleen</a> because it's working harder than normal to break down and filter RBCs</li> <li>aplastic crisis, which is when very few RBCs are made (this usually is due to an infection)</li> </ul> <h3>Who Gets Hereditary Spherocytosis?</h3> <p>People usually inherit hereditary spherocytosis from their parents. Talking to a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetic-counseling.html/">genetic counselor</a> can help someone with the condition understand how it runs in families.</p> <h3>How Is Hereditary Spherocytosis Diagnosed?</h3> <p>If someone has symptoms of hereditary spherocytosis, such as anemia, doctors will look for the cause. They will:</p> <ul> <li>ask about symptoms</li> <li>do an exam</li> <li>ask about similar symptoms in family members</li> <li>order <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/injections-tests.html/">blood tests</a></li> <li>possibly test for genes that cause the condition</li> </ul> <h3>How Is Hereditary Spherocytosis Treated?</h3> <p>Treatment for hereditary spherocytosis depends on the symptoms. Some people never need treatment.</p> <p>When treatments are done, they may include:</p> <ul> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/preg-folic-acid.html/">folic acid</a> supplements</li> <li>removing some or all of the spleen to slow the breakdown of red blood cells</li> <li>removing the gallbladder to get rid of gallstones</li> <li><a class="kh_anchor">blood transfusions</a> to deliver healthy RBCs to the body</li> </ul> <p>Babies with severe symptoms may need:</p> <ul> <li>ultraviolet (UV) light (phototherapy) for <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/jaundice.html/">jaundice</a></li> <li>an exchange transfusion for very severe anemia or jaundice to replace the baby's blood with healthy donated blood</li> </ul> <p>These treatments don't cure the condition, but they do manage symptoms.</p> <p>Some infections can be very serious in young children whose spleen was removed. So they'll need certain vaccines (shots) and special care if they get a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/fever.html/">fever</a>.</p> <h3>How Can Parents Help?</h3> <p>Some children with hereditary spherocytosis don't need any medical treatments. If treatment is needed, you can help your child get the best medical care. Be sure to:</p> <ul class="kh_longline_list"> <li>Take your child to all medical appointments.</li> <li>Give any vitamin supplements or medicines as recommended by the doctors.</li> <li>Learn about hereditary spherocytosis with your child. Your doctors can help you find reliable information.</li> </ul>Esferocitosis hereditariaLa esferocitosis hereditaria es un trastorno de la sangre hereditario. Los síntomas de la esferocitosis hereditaria pueden ir de leves a graves. El tratamiento puede ayudar a aliviar los síntomas. https://kidshealth.org/ws/RadyChildrens/es/parents/hereditary-spherocytosis-esp.html/6c19b327-d5f5-4c44-bd49-ac82933afa3e
AnemiaAnemia happens when there aren't enough healthy red blood cells in the body. It can be caused by many things, including dietary problems, medical treatments, and inherited conditions.https://kidshealth.org/ws/RadyChildrens/en/parents/anemia.html/cadf550b-1db2-4772-9883-15e286b4dd16
Aplastic AnemiaAplastic anemia happens when the body can't make enough blood cells. A person can develop anemia, infections, and bleeding. Treatments can help with most kinds of aplastic anemia.https://kidshealth.org/ws/RadyChildrens/en/parents/aplastic-anemia.html/12092cc9-c730-4501-9387-eb1b07fc6cef
Blood Test: Complete Blood CountThe complete blood count (CBC) is the most common blood test. It analyzes red blood cells, white blood cells, and platelets.https://kidshealth.org/ws/RadyChildrens/en/parents/labtest4.html/d215a09d-302c-4d09-84b9-239b78916755
Blood Test: Reticulocyte CountThis test measures the rate at which reticulocytes (immature red blood cells) are made in the bone marrow and enter the bloodstream. A reticulocyte count can provide information about a child's anemia.https://kidshealth.org/ws/RadyChildrens/en/parents/reticulocyte.html/e79b83cb-ca0f-4e91-8bd3-119998e8f932
Hemolytic AnemiaHemolytic anemia is a type of anemia that happens when red blood cells break down faster than the body can make them.https://kidshealth.org/ws/RadyChildrens/en/parents/anemia-hemolytic.html/96ee66f4-9630-48f3-b91e-211b818e0d91
Iron-Deficiency AnemiaIron helps the body carry oxygen in the blood and plays a key role in brain and muscle function. Too little iron can lead to iron-deficiency anemia.https://kidshealth.org/ws/RadyChildrens/en/parents/ida.html/b81f3bad-4d4d-4db1-8c26-45affb53c115
kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-oncologykh:genre-articlekh:primaryClinicalDesignation-hematologyHeart & Blood Vesselshttps://kidshealth.org/ws/RadyChildrens/en/parents/medical/heart/e9ef0549-4392-4778-974d-753019ce4b8bhttps://kidshealth.org/EN/images/illustrations/spherocytosis_a_enIL.jpg