Hereditary stomatocytosis

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Hereditary stomatocytosis
Stomatocytes in hereditary stomatocytosis
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hemolytic anemia, jaundice, splenomegaly
Complications	Gallstones, iron overload
Onset	Usually in childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations affecting red blood cell membrane proteins
Risks	Family history of the condition
Diagnosis	Blood smear, osmotic fragility test, genetic testing
Differential diagnosis	Hereditary spherocytosis, hereditary elliptocytosis
Prevention	N/A
Treatment	Splenectomy, folic acid supplementation
Medication	N/A
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths	N/A

Hereditary stomatocytosis' is a rare, genetic, hematologic disorder characterized by the presence of stomatocytes (red blood cells with a mouth-like shape) on peripheral blood smears, and associated with hemolytic anemia of variable severity.

Clinical Description

Hereditary stomatocytosis is a condition that affects red blood cells (RBCs), which carry oxygen from the lungs to the rest of the body. In most cases, this condition is characterized by hemolytic anemia. Hemolysis can lead to jaundice, and splenomegaly can occur. The condition is present from birth, and symptoms can range from mild to severe.

Genetics

Hereditary stomatocytosis is caused by mutations in the PIEZO1 gene. It is inherited in an autosomal dominant manner. This means that an individual only needs one copy of the altered gene for the condition to occur.

Diagnosis

Diagnosis of hereditary stomatocytosis is based on the clinical findings, a complete blood count, a family history, and specialized laboratory testing. Molecular genetic testing can confirm the diagnosis.

Management and Treatment

Treatment of hereditary stomatocytosis is focused on managing the symptoms and complications. This can include regular blood transfusions and, in some cases, removal of the spleen (splenectomy).

Prognosis

The long-term outlook for people with hereditary stomatocytosis varies. Some people may have mild symptoms or no symptoms, and others may have severe symptoms. It is important for people with this condition to have regular follow-up appointments with their healthcare provider.

See Also

• Anemia
• Hematologic Diseases
• Genetic Disorders
• Red Blood Cells

References

• National Organization for Rare Disorders
• Genetics Home Reference
• Orphanet

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