Spherocytosis

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Spherocytosis
File:Hereditary Spherocytosis smear 2010-03-17.JPG Blood smear showing spherocytes
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Anemia, jaundice, splenomegaly, fatigue
Complications	Gallstones, aplastic crisis, hemolytic crisis
Onset	Childhood or adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Blood test, osmotic fragility test, EMA binding test
Differential diagnosis	Autoimmune hemolytic anemia, thalassemia, G6PD deficiency
Prevention	N/A
Treatment	Folic acid supplementation, splenectomy, blood transfusion
Medication	Folic acid
Prognosis	N/A
Frequency	1 in 2,000 individuals of Northern European descent
Deaths	N/A

Spherocytosis is a blood disorder, either hereditary or acquired, characterized by the presence of abnormally shaped, sphere-like erythrocytes (red blood cells). It is associated with hemolytic anemia and splenomegaly.

Introduction

Spherocytosis results in red blood cells that are smaller and more spherical than normal, leading to a variety of health issues, primarily hemolytic anemia and enlarged spleen (splenomegaly).

Types

Hereditary Spherocytosis

Hereditary spherocytosis is caused by genetic mutations affecting red blood cell membrane proteins. This form is most common and typically presents in childhood or early adulthood.

Acquired Spherocytosis

Acquired spherocytosis can occur due to certain conditions, such as autoimmune disorders, that alter the red blood cell membrane.

Pathophysiology

The abnormal shape of erythrocytes in spherocytosis leads to their premature destruction in the spleen, resulting in anemia. The continuous breakdown of these cells also causes the spleen to enlarge.

Symptoms

Common symptoms of spherocytosis include:

• Fatigue
• Pale skin
• Jaundice
• Enlarged spleen
• Increased susceptibility to gallstones

Diagnosis

Diagnosis of spherocytosis typically involves:

• Blood tests, including a complete blood count (CBC) and peripheral blood smear
• Bilirubin tests to assess hemolysis
• Osmotic fragility test

Treatment

Treatment options for spherocytosis may include:

• Folic acid supplements
• Blood transfusions in severe cases
• Splenectomy (surgical removal of the spleen) in cases of severe or chronic hemolysis