HEREDITARY SPHEROCYTOSES Meaning and
Definition
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Hereditary Spherocytoses refers to a group of inherited blood disorders characterized by abnormalities in the shape and structure of red blood cells (RBCs). This condition primarily affects the cell membrane of the RBCs, causing them to become spherical or spheroid-shaped, instead of their typical biconcave disc shape. The abnormal shape makes the cells more prone to premature destruction in the spleen, leading to anemia.
Hereditary Spherocytoses is primarily caused by mutations in genes responsible for producing proteins involved in the structural integrity of the RBC membrane, such as ankyrin, spectrin, or band 3. These genetic mutations result in a defect in the RBC membrane, making it weaker and more fragile, leading to the formation of spheroid-shaped cells.
Common symptoms of Hereditary Spherocytoses include anemia, fatigue, jaundice, enlargement of the spleen, and sometimes, gallstones. The severity of symptoms can vary from mild to severe, depending on the extent of the membrane defect and the degree of anemia.
Diagnosis of this disorder involves a combination of physical examination, blood tests to analyze the shape, size, and composition of RBCs, and genetic testing to identify the specific gene mutations responsible for the condition.
Treatment generally focuses on managing the symptoms and preventing complications. This may involve blood transfusions to alleviate anemia, folic acid supplements to support RBC production, removal of the spleen (splenectomy) in severe cases, and close monitoring of complications such as gallstones. Genetic counseling is also recommended for affected individuals and their families to understand the inherited nature of the condition.
Common Misspellings for HEREDITARY SPHEROCYTOSES
- gereditary spherocytoses
- bereditary spherocytoses
- nereditary spherocytoses
- jereditary spherocytoses
- uereditary spherocytoses
- yereditary spherocytoses
- hwreditary spherocytoses
- hsreditary spherocytoses
- hdreditary spherocytoses
- hrreditary spherocytoses
- h4reditary spherocytoses
- h3reditary spherocytoses
- heeeditary spherocytoses
- hededitary spherocytoses
- hefeditary spherocytoses
- heteditary spherocytoses
- he5editary spherocytoses
- he4editary spherocytoses
- herwditary spherocytoses
- hersditary spherocytoses
Etymology of HEREDITARY SPHEROCYTOSES
The word "hereditary" comes from the Latin word "hereditarius", which means "inherited". It is derived from the noun "hereditas", meaning "inheritance". "Spherocytosis" comes from the combination of two Greek words: "sphaira", meaning "sphere", and "kutos", meaning "cell". The suffix "-osis" indicates a medical condition or abnormality. Therefore, "hereditary spherocytosis" refers to a genetic disorder characterized by the presence of spherical red blood cells.
