Hereditary stomatocytosis
Hereditary Stomatocytosis (pronunciation: həˈredəˌterē stōmətōsīˈtōsəs) is a rare genetic disorder characterized by the presence of stomatocytes (red blood cells with a mouth-like shape) in the blood.
Etymology
The term "Hereditary Stomatocytosis" is derived from three words: "Hereditary" meaning inherited, "Stomato" from the Greek word "stoma" meaning mouth, and "cytosis" meaning a condition of cells.
Overview
Hereditary Stomatocytosis is a condition that affects the RBCs or erythrocytes. It is characterized by the presence of stomatocytes, which are red blood cells that appear to have a mouth-like shape when viewed under a microscope. This condition is caused by mutations in genes that regulate the movement of ions across the red blood cell membrane, leading to an imbalance in the cell's ion concentration.
Symptoms
The symptoms of Hereditary Stomatocytosis can vary greatly among affected individuals. Some common symptoms include anemia, jaundice, and splenomegaly (an enlarged spleen). In severe cases, it can lead to hemolytic anemia and hydrops fetalis (a severe form of fetal anemia).
Diagnosis
Diagnosis of Hereditary Stomatocytosis is typically made through a complete blood count (CBC) and a peripheral blood smear. Genetic testing can confirm the diagnosis and identify the specific gene mutation causing the condition.
Treatment
Treatment for Hereditary Stomatocytosis is primarily supportive and may include blood transfusions, folic acid supplementation, and in some cases, splenectomy (removal of the spleen).
See Also
External links
- Medical encyclopedia article on Hereditary stomatocytosis
- Wikipedia's article - Hereditary stomatocytosis
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