Hereditary spherocytosis

Hereditary or congenital spherocytosis is an inherited condition where the red blood cells are spherical instead of the usual disk shape. It can lead to jaundice, hemolytic anemia, and an enlarged spleen. Treatment can help a person live a full quality of life. Hemolytic anemia means that red blood cells die faster than the body can replace them. A person’s life expectancy with hereditary spherocytosis is usually typical. However, people born with this condition may need ongoing medical monitoring and sometimes surgery to treat gallstones or an enlarged spleen. Some may also need blood transfusions if their red blood cell count drops too low. Several different genetic mutations cause hereditary spherocytosis. It is relatively common and Read on to learn more about hereditary spherocytosis, including its symptoms and how doctors diagnose and treat it. Share on Pinterest Design by MNT: Photography by Paulo Henrique Orlandi Mourao, CC BY-SA 3.0, via Wikimedia Commons & Yoshiyoshi Hirokawa /Getty Images People with hereditary spherocytosis have Additionally, their red blood cells live a shorter time in comparison. This can cause anemia, which means that a person does not have enough red blood cells. Red blood cells typically Spherocytosis is present at birth, but many children do not show symptoms for years, and some may have few or no symptoms at all. In North America, The condition is present at birth, but most people do not develop symptoms or receive a diagnosis until earl...

• Overview   • • Theory   • Epidemiology • Etiology • Case history • Diagnosis   • Approach • History and exam • Investigations • Differentials • Criteria • Screening • Management   • Approach • Treatment algorithm • Emerging • Prevention • Patient discussions • Follow up   • Monitoring • Complications • Prognosis • Resources   • Guidelines • Images and videos • • Patient leaflets Hereditary spherocytosis is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. It is the most common form of inherited hemolytic anemia in the US and northern Europe. The severity of resultant hemolysis is related to the type and amount of membrane disruption. May be diagnosed at any age. The key laboratory features are the presence of spherocytes on the blood smear in association with a negative direct antiglobulin test (DAT) and an elevated reticulocyte count. May be newly diagnosed in children who present with severe anemia due to parvovirus infection. Patients may also be completely asymptomatic. In these cases, HS may be detected on a blood count/smear done for other reasons. Management depends on the severity of the hemolysis and degree of anemia, but is generally supportive for most patients. Splenectomy is the treatment of choice in patients with severe HS. This is best avoided until at least 6 years of age to reduce the risk of postsplenectomy sepsis. Definition Hereditary spherocytosis (HS) is an inherited abnormality of the re...

• Mild: This type rarely causes symptoms, or symptoms may occur when there is a triggering factor. • Moderate: This is the most common type, and it causes moderate symptoms. This type generally requires ongoing monitoring and treatment as needed. • Moderate/severe: This type can cause frequent symptoms and may require splenectomy (surgical removal of the spleen). • Severe: This type may require frequent Sometimes it is inherited in an autosomal recessive pattern, which means that a person needs to have two copies of the disease-causing gene (one from each genetic parent) to develop the condition. Parents who are carriers might not experience any effects, and it rarely can develop without being inherited. The clinical severity of spherocytosis is associated with the specific gene and the resulting protein defect. How Is Spherocytosis Diagnosed? You may have signs of spherocytosis that your doctor can detect with a physical examination, such as pale skin, jaundice, an enlarged abdomen, or a palpable (can be felt by touch) spleen. With spherocytosis, these signs are not always present. • Complete blood count (CBC): The hemoglobin level (the protein that carries oxygen in red blood cells) and • Peripheral blood smear: This microscopic examination will show a spherical shape, small size, and deep stain of the red blood cells. • Bilirubin test: Bilirubin is a product of red blood cell breakdown. It can be measured in the blood. Diagnostic Criteria for Types of Spherocytosis Hemo...

What is hereditary spherocytosis? Hereditary spherocytosis (HS) is a disorder of the surface, called the membrane, of your red blood cells. It causes your red blood cells to be shaped like spheres instead of flattened discs that curve inward. The spherical cells are less flexible than normal red blood cells. In a healthy body, the The irregular shape of the red blood cells can cause the spleen to break them down faster. This breakdown process is called Hereditary spherocytosis can range from mild to severe. Symptoms vary depending on the severity of the disease. Most individuals with HS have moderate disease. People with mild HS may be unaware they have the disease. Anemia Spherocytosis causes your red blood cells to break down faster than healthy cells do, which can lead to anemia. If spherocytosis causes anemia, you may appear paler than normal. Other common symptoms of anemia from hereditary spherocytosis can include: • fatigue • shortness of breath • irritability • dizziness or lightheadedness • increased heart rate • headache • heart palpitations • jaundice Jaundice When a blood cell breaks down, the pigment bilirubin is released. If your red blood cells break down too quickly, it leads to too much bilirubin in your bloodstream. An excess of bilirubin can cause jaundice. Jaundice causes the skin to turn yellowish or bronze. The whites of the eyes can also turn yellow. Gallstones Excess bilirubin can also cause • sudden pain in your upper right abdomen or below your br...