HEREDITARY SPHEROCYTOSIS Meaning and
Definition
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Hereditary spherocytosis is a lifelong inherited blood disorder characterized by abnormal red blood cells (RBCs) that are spherical in shape rather than the normal biconcave disc shape. These abnormal RBCs are more prone to premature destruction (hemolysis) and have a reduced lifespan compared to healthy RBCs.
This genetic condition is caused by mutations in the genes responsible for the production of certain proteins involved in maintaining the shape and stability of RBCs, particularly spectrin, ankyrin, band 3, and protein 4.2. These mutations lead to a disruption in the structural integrity of the RBC membrane, causing the cells to lose their flexibility and become spherical.
The main clinical manifestations of hereditary spherocytosis include anemia, jaundice (yellowish discoloration of the skin and eyes due to increased breakdown of RBCs), and an enlarged spleen. Patients may also experience symptoms such as fatigue, shortness of breath, palpitations, and gallstones.
Diagnosis of hereditary spherocytosis involves a combination of clinical evaluation, blood tests including a complete blood count (CBC) and peripheral blood smear examination, and specialized tests like osmotic fragility test and eosin-5'-maleimide (EMA) binding test.
Management of hereditary spherocytosis focuses on alleviating symptoms and preventing complications. Treatment options may include folic acid supplements to enhance RBC production, blood transfusions in severe cases, splenectomy (surgical removal of the spleen) to reduce hemolysis, and management of complications such as gallstone removal.
Overall, hereditary spherocytosis is a relatively rare but important genetic disorder affecting the red blood cells, requiring lifelong management
Common Misspellings for HEREDITARY SPHEROCYTOSIS
- gereditary spherocytosis
- bereditary spherocytosis
- nereditary spherocytosis
- jereditary spherocytosis
- uereditary spherocytosis
- yereditary spherocytosis
- hwreditary spherocytosis
- hsreditary spherocytosis
- hdreditary spherocytosis
- hrreditary spherocytosis
- h4reditary spherocytosis
- h3reditary spherocytosis
- heeeditary spherocytosis
- hededitary spherocytosis
- hefeditary spherocytosis
- heteditary spherocytosis
- he5editary spherocytosis
- he4editary spherocytosis
- herwditary spherocytosis
- hersditary spherocytosis
Etymology of HEREDITARY SPHEROCYTOSIS
The word "hereditary" comes from the Latin word "hereditarius", which means "inherited" or "passing down through generations". It refers to a condition or trait that is transmitted genetically from parent to offspring.
"Spherocytosis" is derived from the Greek word "sphaira", meaning "sphere", and the suffix "-osis", which refers to a condition or state. In medical terminology, "spherocytosis" refers to a condition where red blood cells (erythrocytes) become abnormally spherical in shape.
When combined, "hereditary spherocytosis" describes a genetic disorder characterized by abnormal spherical-shaped red blood cells that are inherited through generations.
