Spherocytosis

This is a change in the shape of erythrocytes due to inherited changes in the composition of the external erythrocyte membrane (membrane) (cholesterol, spectrin protein, phospholipids). Na⁺ easily passes through the cell membrane, so erythrocytes have a round (spherical) shape, are unstable, prone to spontaneous hemolysis. Altered erythrocyte shapes are removed from the blood faster (reducing their lifespan), leading to anemia and/or jaundice.

Spherocytosis is inherited. If one parent has it, the chance for a child to have the same erythrocyte external membrane structural disorder is 50% or 1 in 2; if both parents have it, the probability is 75% (3 in 4). Depending on the gene combination, the likelihood of a sick child passing the disease to their children is 50-100%. To inherit the disease, one mutated gene is enough, regardless of whether it is inherited from the father or mother. In rare cases, this disease can occur due to newly occurring gene mutations (spontaneous mutations), even if all relatives are healthy. Symptoms of spherocytosis: headache, enlarged spleen, jaundice, fever, abdominal pain, chills, anemia. More common in Northern Europe.

Source | Glossary of Most Commonly Used Biomedical Terms and Concepts | Lithuanian University of Health Sciences | Academician Professor Antanas Praškevičius, Professor Laima Ivanovienė