Hereditary Spherocytosis: Overview; Complications, Managements, Treatments

Hereditary spherocytosis is an abnormality of red blood cells, or erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. Dysfunctional membrane proteins are observed as well and interfere with the cell's ability to be flexible to travel from the arteries to the smaller capillaries. This difference in shape also makes the red blood cells more prone to rupture. Cells with these dysfunctional proteins are degraded in the spleen. This shortage of erythrocytes results in hemolytic anemia.

Autorentext

Dr. Eman Refaat Youness, MD, Medical Biochemistry, Faculty of Medicine, Cairo university, Assistant professor of medical Biochemistry, National Research centre, Egypt, Experienced in experimental design, clinical Researches, DNA, PCR,have a lot of international publications, member in international societies, Reviewer and editor in many journals