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Hereditary Spherocytosis: Causes, Symptoms, Diagnosis, Treatment and Complications

Sep 8, 2023

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Causes Of Hereditary Spherocytosis

Symptoms Of Hereditary Spherocytosis

Diagnosis Of Hereditary spherocytosis

Treatment Of Hereditary spherocytosis

Complications Of Hereditary Spherocytosis

Hereditary Spherocytosis

Hereditary spherocytosis is an inherited blood disorder that causes hemolytic anemia. Anemia is a condition when your red blood cells deteriorate more quickly than usual. Hereditary spherocytosis causes red blood cells to lose their distinctive disk-like shape and transform into spherocytes, which leave the body's circulation more quickly than normal red blood cells.


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Causes Of Hereditary Spherocytosis

This disorder is inherited from one's biological parents, as the name suggests. The genes from each person's parents are inherited. When genes are transferred from parent to child, they can change or mutate, resulting in inherited disorders. 

Five separate genes may be mutated in hereditary spherocytosis patients who are affected by their parents. The proteins that make up a portion of the structure of red blood cells are guided by these genes. If someone has a severe or mild case of hereditary spherocytosis, it is also caused by this genetic abnormality.

The disorder is inherited autosomally dominantly in about 75% of patients with hereditary spherocytosis. In other words, all it takes is one copy of the relevant gene to result in some kind of hereditary spherocytosis.

A 50% probability of inheriting the defective gene exists in offspring born to parents who have the disorder.

Because they acquired one copy of the defective genes from each parent, other people inherit the disease. This is an autosomal recessive trait. In this instance, parents are carriers but typically do not exhibit any symptoms or signs of hereditary spherocytosis.

Every child born to carriers has a unique probability of developing hereditary spherocytosis. They have a 25% risk of getting the disease, a 50% chance of being a carrier but not getting the condition, and a 25% chance of not being a carrier and not having hereditary spherocytosis.

Symptoms Of Hereditary Spherocytosis

Jaundice and swollen spleens are signs of hemolytic anemia. Additional signs include:

  • Dyspnea (a lack of red blood cells that deliver oxygen throughout the body) is a condition where breathing becomes difficult.
  • Fatigue is the feeling of being so worn out that it interferes with your ability to go about your everyday activities and impairs your quality of life.
  • Fast heartbeat (tachycardia): If you have this ailment, your heart beats more quickly than it should. If your heart beats too quickly, it won't have enough time between beats to fill with blood, which prevents your heart from giving your body the oxygen it requires.
  • Hypotension, often known as low blood pressure, can be a symptom or a medical condition. It occurs when your blood pressure is significantly lower than normal.

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Diagnosis Of Hereditary spherocytosis

When making a diagnosis, medical professionals consider your symptoms, inquire about your medical history and that of your biological family, do various tests, and more. This test might consist of:

  • Complete blood count (CBC): This examination provides medical professionals with details about your blood and general health. A peripheral blood smear is a test that doctors use to look at the size and form of your blood cells.
  • Reticulocyte count: Medical professionals check your reticulocyte count to determine how many healthy red blood cells your bone marrow is making. This test, known as the direct antiglobulin (Coombs) test, looks for autoimmune hemolytic anemia.
  • A blood test to measure bilirubin levels is used to look for elevated levels. This test measures the osmotic fragility of red blood cells, which determines their propensity to disintegrate.
  • Plasma membrane electrophoresis: This method uses a gel or liquid on an electric field to separate DNA, RNA, or proteins. This test is used by medical professionals to pinpoint the specific red cell membrane protein that has changed or been altered.

Treatment Of Hereditary spherocytosis

Depending on the symptoms, different treatments are used. When hereditary spherocytosis is identified, for instance, newborns with severe anemia may be treated with blood transfusions and/or erythropoietin-stimulating drugs (ESA). ESA is a medicine that promotes the synthesis of red blood cells. Other possible remedies include:

  • Phototherapy- It is a form of light therapy used to treat neonates with jaundice.
  • Blood transfusions- Healthcare professionals may use blood transfusions to treat anemia.
  • A splenectomy- Spleen removal may be used by medical professionals to treat severe cases of hereditary spherocytosis.
  • Cholecystectomy- This operation removes the gallbladder and treats gallstones.
  • Iron Chelation Therapy- Hemochromatosis, an iron overload condition, can occur in people who receive blood transfusions. Extra iron is eliminated during iron chelation therapy.

Complications Of Hereditary Spherocytosis

Most individuals with hereditary spherocytosis may also experience any of the following disorders in addition to hemolytic anemia:

  • Spleen enlargement (splenomegaly): In hereditary spherocytosis, the spleen enlarges due to the accumulation of spherocytes. Before entering the bloodstream, blood cells pass through the spleen, negotiating a number of tight spaces. Your spleen controls the quality of your blood cells. It separates red blood cells, locating and eliminating deteriorated, aberrant, or damaged blood cells. Your spleen is where typical disk-shaped red blood cells pass through. Your spleen enlarges to accommodate the exceptionally high amount of blood cells because round spherocytes can't escape and are trapped inside.
  • The symptoms of jaundice include yellowing of the mucous membranes, skin, and the whites of the eyes (sclera). This occurs when your red blood cells break down, resulting in a high level of bilirubin in your body.
  • Gallstones: Gallstones can be brought on by high bilirubin levels.

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