Following is transmitted as autosomal dominant disorder
Hereditary spherocytosis (also known as Minkowski-Chauffard syndrome) is an autosomal dominant abnormality of 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 interfere with the cell's ability to be flexible to travel from the aeries to the smaller capillaries. This difference in shape also makes the red blood cells more prone to rupture. Cells with these dysfunctional proteins are taken for degradation at the spleen. This shoage of erythrocytes results in hemolytic anemia.Hereditary spherocytosis is caused by a variety of molecular defects in the genes that code for the red blood cell proteins spectrin (alpha and beta), ankyrin, band 3 protein, protein 4.2, and other red blood cell membrane proteins
Albinism
Sickle cell anemia
Hereditary spherocytosis
Glycogen storage disease
General pathology