What red cell skeletal protein shapes the red cell membrane?

What red cell skeletal protein shapes the red cell membrane?

The red cell membrane skeleton is a pseudohexagonal meshwork of spectrin, actin, protein 4.1R, ankyrin, and actin-associated proteins that laminates the inner membrane surface and attaches to the overlying lipid bilayer via band 3-containing multiprotein complexes at the ankyrin- and actin-binding ends of spectrin.

What is hereditary Elliptocytosis?

Hereditary elliptocytosis (HE), also called hereditary ovalocytosis, is a heterogeneous group of inherited red blood cell (RBC) disorders characterized by the presence of elongated, oval, or elliptically shaped RBCs on the peripheral blood smear.

What is the difference between hereditary Elliptocytosis and hereditary spherocytosis?

Hereditary spherocytosis is characterized by hemolysis of spheroidal RBCs and anemia. Hereditary elliptocytosis (ovalocytosis) is a rare autosomal dominant disorder in which RBCs are oval or elliptical.

Is hereditary membrane defect chronic?

While the clinical manifestations may vary widely, the typical presentation of a patient with HS is a combination of a chronic incompletely compensated mild-to-moderate hemolytic anemia with evidence of spherocytosis on the peripheral blood smear, splenomegaly, jaundice, and a positive family history (75% cases).

What is membrane skeleton?

The membrane skeleton is a specialized part of the cytoskeleton that is in close proximity to the cell membrane with a protein composition and structure that differs from that of the bulk cytoskeleton.

What is the cell membrane of RBC?

The RBC membrane is essentially a two-dimensional (2D) structure, comprised of a cytoskeleton and a lipid bilayer, tethered together. The lipid bilayer includes various types of phospholipids, sphingolipids, cholesterol, and integral membrane proteins, such as band-3 and glycophorin (see Fig.

How common is hereditary Elliptocytosis?

Hereditary elliptocytosis occurs in about 1-5 in 10,000 people. It is more common in parts of the world where malaria is more common.

How is hereditary Elliptocytosis inherited?

Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. [15370] Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern.

What does Elliptocytes cause?

Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice).

What causes red cell membrane defects?

Red cell membrane disorders are inherited diseases due to mutations in various membrane or skeletal proteins, resulting in decreased red cell deformability, reduced life span and premature removal of the erythrocytes from the circulation.

What is the most common mechanism resulting in hereditary Stomatocytosis?

This disease is due to abnormal RBC membrane cation permeability and consequent defective cellular hydration. It is transmitted as autosomal dominant.


Back to Top