Hereditary spherocytic hemolytic anemia

Hereditary Spherocytic Hemolytic Anemia (HSHA) is a genetic disorder affecting the red blood cells (RBCs). It is characterized by the presence of spherocytes, which are spherical red blood cells, in the blood, instead of the normal biconcave shape. This condition leads to hemolytic anemia, where the red blood cells are destroyed faster than they can be made.

Causes

HSHA is caused by mutations in genes that are responsible for the production of proteins involved in the red blood cell membrane's structure. These proteins include ankyrin, band 3 protein, protein 4.2, spectrin, and sometimes others. The mutations lead to a deficiency or malfunctioning of these proteins, causing the red blood cells to become more spherical and less flexible. As a result, these cells are more prone to being destroyed in the spleen, leading to anemia.

Symptoms

The symptoms of HSHA can vary widely among individuals, ranging from mild to severe. Common symptoms include:

• Fatigue
• Pallor (pale skin)
• Jaundice (yellowing of the skin and eyes)
• Splenomegaly (enlargement of the spleen)
• Gallstones
• Increased risk of infections

Diagnosis

Diagnosis of HSHA typically involves a combination of clinical evaluation, family history, and laboratory tests. Key diagnostic tests include:

• Complete blood count (CBC), which often shows anemia and increased reticulocyte count
• Peripheral blood smear, which reveals the presence of spherocytes
• Osmotic fragility test, which measures the red blood cells' resistance to hemolysis in hypotonic solutions
• Eosin-5'-maleimide (EMA) binding test, a more specific test for HSHA
• Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes.

Treatment

Treatment for HSHA is tailored to the severity of the condition and the symptoms present in the individual. Options include:

• Folic acid supplementation to help with the production of new red blood cells
• Blood transfusions in cases of severe anemia
• Splenectomy (surgical removal of the spleen), which can alleviate symptoms and reduce the need for transfusions but increases the risk of infections
• Vaccinations against specific infections, especially if splenectomy is performed

Prognosis

The prognosis for individuals with HSHA is generally good, especially with proper management of the condition. Splenectomy can significantly improve quality of life, although it does come with long-term risks of infection. Lifelong follow-up with a healthcare provider is recommended to monitor for complications and manage symptoms.

Epidemiology

HSHA is the most common form of hereditary hemolytic anemia in people of Northern European descent, but it can affect individuals of any ethnic background. The exact prevalence is difficult to determine due to variations in disease severity and diagnostic criteria.

Hereditary spherocytic hemolytic anemia Resources
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