Hereditary spherocytosis (HS) is an inherited blood disorder characterized by fragile, sphere-shaped red blood cells (spherocytes) that are prone to premature destruction. This article provides a comprehensive overview of HS, including dietary recommendations, symptoms, diagnosis, treatment options, and potential complications.
Understanding Hereditary Spherocytosis
In healthy individuals, red blood cells are disc-shaped, enabling them to easily navigate through blood vessels and deliver oxygen to cells throughout the body. In individuals with HS, the outer shell of red blood cells is fragile, causing them to become sphere-shaped. These spherocytes are less flexible than normal red blood cells, making it difficult for them to pass through the spleen.
The spleen, an organ located on the left side of the body under the ribcage, filters the blood and removes damaged or abnormal cells. Spherocytes are easily trapped within the spleen, where they are destroyed at an accelerated rate. This destruction of red blood cells leads to hemolytic anemia, a condition in which the body does not have enough healthy red blood cells to carry oxygen to its tissues.
Genetic Basis and Prevalence
Almost always, the abnormal gene that causes hereditary spherocytosis is passed down from parents to children. The condition is more common in people whose ancestors come from northern Europe. According to a 2005 article in the “American Society of Hematology Education Program Book,” hereditary spherocytosis is the most common inherited anemia in people of northern European descent.
Symptoms of Hereditary Spherocytosis
The severity of HS symptoms varies widely among affected individuals. Some children may experience only minor symptoms, while others may face more serious complications. Common symptoms of HS include:
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- Anemia: A low level of red blood cells, leading to fatigue, weakness, and shortness of breath.
- Jaundice: A yellowing of the skin and whites of the eyes, caused by a buildup of bilirubin, a byproduct of red blood cell destruction.
- Splenomegaly: Enlargement of the spleen, which can cause abdominal discomfort and increase the risk of splenic rupture.
- Gallstones: Hard deposits that form in the gallbladder, often causing abdominal pain and requiring surgical removal.
Diagnosis of Hereditary Spherocytosis
Diagnosing HS typically involves a combination of physical examination, medical history review, and laboratory tests. Genetic testing is almost never used to diagnose hereditary spherocytosis. These tests may include:
- Complete Blood Count (CBC): To assess red blood cell levels and identify anemia.
- Peripheral Blood Smear: To examine the shape and size of red blood cells under a microscope and detect spherocytes.
- Reticulocyte Count: To measure the number of young red blood cells in the body, indicating the bone marrow's response to anemia.
- Bilirubin Test: To measure bilirubin levels in the blood, which are elevated in hemolytic anemia.
- Osmotic Fragility Test: To assess the fragility of red blood cells when exposed to varying salt concentrations.
Treatment Options for Hereditary Spherocytosis
There is no cure for HS, but various treatments can help manage the symptoms and prevent complications. Treatment options may include:
- Blood Transfusions: To increase red blood cell levels in individuals with severe anemia.
- Splenectomy: Surgical removal of the spleen, which can reduce the rate of red blood cell destruction and improve anemia.
- Gallbladder Removal: Surgical removal of the gallbladder if gallstones cause pain or complications.
- Folic Acid Supplementation: To support red blood cell production, as individuals with HS have increased folate requirements.
The Role of Splenectomy
Because red blood cells get destroyed in the spleen, it may help your child’s condition to remove all or part of their spleen. Removing part or all of the spleen slows how fast red blood cells break down. Some children with hereditary spherocytosis never need their spleen removed. Because the spleen helps fight certain bacterial infections, doctors try to delay this surgery until your child is at least 5 years old. In most cases, our surgeons can do laparoscopic surgery. They remove part of the spleen through small cuts with the aid of a tiny camera, rather than through a large cut. Without a spleen, the risk of infection is higher. After surgery, your doctor will explain how to help avoid infections and what symptoms to watch for. Fever can be an emergency.
Folic Acid Supplementation in Detail
Folate is essential to the production of red blood cells. According to the Office of Dietary Supplements, when your body destroys red blood cells at a fast pace, extra folate is needed to replace them. Many breads and pastas are enriched with folic acid, the synthetic form of folate. Orange juice is, too.
Dietary Recommendations for Hereditary Spherocytosis
While there is no specific diet for HS, certain dietary modifications can help manage symptoms and support overall health. These recommendations include:
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- Folate-Rich Foods: Consume foods rich in folate, such as leafy green vegetables, legumes, and fortified grains, to support red blood cell production.
- Iron Management: In some cases of spherocytosis, you are at risk for iron overload because of the destruction of the iron-rich red blood cells. Consult with your physician if this is a concern. If it is, avoid iron-rich foods such as red meat, beans and spinach.
- Limit Saturated Fats: If you suffer jaundice because of your spherocytosis, limit your intake of the saturated fats found in animal products such as beef, cheese and butter. Instead, focus on monounsaturated and polyunsaturated fats, which can be obtained from olive oil, fish, nuts and avocados.
- Lean Protein and Complex Carbohydrates: Additionally, limit your protein intake and focus on complex carbohydrates. Opt for lean proteins such as beans, tofu and turkey or chicken. This will also minimize your saturated fat intake.
- Hydration: Drink plenty of fluids to prevent dehydration, which can worsen anemia.
- Balanced Diet: Maintain a balanced diet with adequate servings of fruits, vegetables, whole grains, and lean protein to ensure optimal nutrient intake.
Potential Complications of Hereditary Spherocytosis
Individuals with HS are at risk for several complications, including:
- Gallstones: The increased breakdown of red blood cells can lead to the formation of gallstones, which may require surgical removal.
- Aplastic Crisis: A sudden decrease in red blood cell production, often triggered by parvovirus B19 infection.
- Splenic Rupture: Enlargement of the spleen can increase the risk of rupture, especially after trauma.
- Infections: Splenectomy increases the risk of serious bacterial infections, requiring prophylactic antibiotics and vaccinations.
Living with Hereditary Spherocytosis
Children with this condition can have healthy, active lives. But they need care from a blood specialist (hematologist) with experience in this disease. At Seattle Children’s, we provide complete care for children with hereditary spherocytosis. We work with you, your child, your family and your child's primary care provider to get your child the right care and services. If you would like an appointment, ask your primary care provider to refer you to our Cancer and Blood Disorders Center. Our doctors are nationally known for treating children who have blood disorders. The doctors who will guide your child’s care are board certified in pediatric hematology. Our full range of services includes blood transfusions and surgery to treat children with severe disease. Our surgeons are specially trained to care for kids and are board certified in pediatric surgery. We care for your whole child. We don’t just treat their disease. Our physician-scientists help set national standards for care of young people with blood disorders. Children do not react to illness, injury, pain and medicine in the same way as adults. They need - and deserve - care designed just for them. Having a child with hereditary spherocytosis can be stressful for the entire family. We take positive steps right away by offering same-day appointments for children with urgent needs. During visits, we take time to explain your child’s condition. Our social workers are here to help your child and your family through the challenges of this condition. At Seattle Children's, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care.
The Importance of Regular Monitoring
Regular monitoring by a hematologist is crucial for individuals with HS to detect and manage potential complications. This monitoring may include blood tests to assess red blood cell levels, bilirubin levels, and spleen size.
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