Hereditary Spherocytosis Report

Hereditary Spherocytosis

Hereditary Spherocytosis is an inherited hematological disorder (a type of hemolytic anemia) characterized by the presence of red blood cells that are spherical in shape rather than like a disk. The five main genes associated with the onset of this pathology code for the proteins that make up the membrane of the red blood cells thanks to which, in normal conditions, these cells deform flexibly when passing through the narrow capillaries. The mutations they undergo, changing the cell shape from a flattened disk to a spherical one, deprive the red blood cells of this physiological deformability, directing them to early destruction. The ANK1 gene, encoding ankyrin, is responsible for approximately half of cases of hereditary spherocytosis.

5 genes analyzed

It is recommended if:

This test is indicated for those with a suspected diagnosis of HS, given by typical clinical features, abnormal laboratory test results (peripheral blood spherocytosis, MCHC increase, reticulocyte increase) or a positive family history.

List of main conditions:

• Spherocytosis, type 1
• Spherocytosis, type 5
• Elliptocytosis-3