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</div><div><span>Hereditary spherocytic anemia</span></div></div>
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</a><h1 class="with-also" itemprop="name">Hereditary spherocytic anemia</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Hereditary spherocytic anemia is a rare disorder of the surface layer (membrane) of red blood cells. It leads to red blood cells that are shaped like spheres, and premature breakdown of red blood cells (<a test="test" href="./000571.htm">hemolytic anemia</a>).</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>This disorder is caused by a genetic variation. The variant gene results in an abnormal red blood cell membrane. The affected cells have a smaller surface area for their volume than normal red blood cells, and can break open easily.</p><p>The anemia can vary from mild to severe. In severe cases the disorder may be found in early childhood. In mild cases it may go unnoticed until adulthood.</p><p>This disorder is most common in people of northern European descent, but it has been found in all races.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>Infants may have yellowing of the skin and eyes (<a test="test" href="./000210.htm">jaundice</a>) and pale coloring (<a test="test" href="./003244.htm">pallor</a>).</p><p>Other symptoms may include:</p><ul><li><a test="test" href="./003088.htm">Fatigue</a></li><li>Irritability</li><li><a test="test" href="./003075.htm">Shortness of breath</a></li><li><a test="test" href="./003174.htm">Weakness</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>In most cases, the spleen is enlarged and can be detected by your health care provider.</p><p>Laboratory tests can help diagnose this condition. Tests may include:</p><ul><li>Blood smear to show abnormally shaped cells</li><li><a test="test" href="./003479.htm">Bilirubin level</a></li><li><a test="test" href="./003642.htm">Complete blood count</a> (CBC) to check for anemia</li><li><a test="test" href="./003344.htm">Coombs test</a></li><li><a test="test" href="./003471.htm">Lactate dehydrogenase (LDH) level</a></li><li><a test="test" href="./003634.htm">Haptoglobin level</a></li><li><a test="test" href="./003641.htm">Osmotic fragility</a> or specialized testing to evaluate for the red blood cell defect</li><li><a test="test" href="./003637.htm">Reticulocyte count</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>If the spleen is enlarged, surgery to remove it (<a test="test" href="./002944.htm">splenectomy</a>) cures the anemia but does not correct the abnormal cell shape.</p><p>Families with a history of spherocytosis should have their children screened for this disorder.</p><p>Children should wait until age 5 to have splenectomy because of the infection risk. In mild cases discovered in adults, it may not be necessary to remove the spleen.</p><p>Children and adults should be given a <a test="test" href="./007605.htm">pneumococcal vaccine</a> before spleen removal surgery. They also should receive folic acid supplements. Additional vaccines may be needed based on the person's history.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>More information and support for people with hereditary spherocytic anemia and their families can be found at:</p><ul><li>Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis">rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis</a></li><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/anemia-hereditary-spherocytic-hemolytic/">rarediseases.org/rare-diseases/anemia-hereditary-spherocytic-hemolytic/</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>The outcome is usually good with treatment. After the spleen is removed, the life span of the red blood cell returns to normal.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Complications may include:</p><ul><li><a test="test" href="./000273.htm">Gallstones</a></li><li>Much lower red blood cell production (aplastic crisis) caused by a viral infection, which can make anemia worse </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Contact your provider if:</p><ul><li>Your symptoms get worse.</li><li>Your symptoms do not improve with new treatment.</li><li>You develop new symptoms.</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p>This is an inherited disorder and may not be preventable. Being aware of your risk, such as a family history of the disorder, may help you get diagnosed and treated early.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Congenital spherocytic hemolytic anemia; Spherocytosis; Hemolytic anemia - spherocytic</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/1218t.jpg" alt="Red blood cells - normal" title="Red blood cells - normal" class="side-img"/><a href="../imagepages/1218.htm">Red blood cells - normal</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Gallagher PG. Red blood cell membrane disorders. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. <em>Hematology: Basic Principles and Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 46.</p><p>Prozora S, Gallagher PG. Hereditary spherocytosis. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 507.</p></div></div></section>
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<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 3/31/2024</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<div id="section-version" class="section-body"><p>Updated by: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.</p>
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