Hereditary elliptocytosis Save

What is Hereditary Elliptocytosis?

Hereditary Elliptocytosis (HE) is a rare genetic disorder that affects the shape and flexibility of red blood cells. It is also known as Ovalocytosis or Elliptocytosis. This disorder is caused by mutations in the genes that produce proteins responsible for maintaining the shape of red blood cells.

Symptoms of Hereditary Elliptocytosis

The symptoms of HE vary from person to person and range from mild to severe. Some of the common symptoms include:

1. Anemia
2. Jaundice
3. Fatigue
4. Enlarged spleen

Diagnosis of Hereditary Elliptocytosis

Diagnosing Hereditary Elliptocytosis involves a series of tests. The tests may include:

• Complete blood count (CBC)
• Peripheral blood smear
• Osmotic fragility test
• Electrophoresis

Causes of Hereditary Elliptocytosis

Hereditary Elliptocytosis is caused by mutations in the genes that produce proteins responsible for maintaining the shape of red blood cells. The mutations cause the red blood cells to become more rigid and less flexible. As a result, the cells cannot move through the blood vessels easily, leading to anemia and other symptoms.

Complications of Hereditary Elliptocytosis

Hereditary Elliptocytosis can lead to various complications, including:

1. Iron deficiency anemia
2. Splenic sequestration crisis
3. Gallstones
4. Increased risk of infections

Conclusion

Hereditary Elliptocytosis is a rare genetic disorder that affects the shape and flexibility of red blood cells. It can cause anemia, jaundice, fatigue, and other symptoms. Diagnosing HE involves a series of tests, including a complete blood count, peripheral blood smear, osmotic fragility test, and electrophoresis. HE can lead to various complications, including iron deficiency anemia, splenic sequestration crisis, gallstones, and increased risk of infections. If you suspect that you or your child has Hereditary Elliptocytosis, consult a doctor for proper diagnosis and management.