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Chapter 13: Erythrocyte Membrane Disorders

THE ERYTHROCYTE MEMBRANE

  • The erythrocyte membrane plays a critical role in the maintenance of the biconcave shape and integrity of the red cell.

  • It provides flexibility, durability, and tensile strength, enabling erythrocytes to undergo extensive and repeated distortion during their passage through the microvasculature.

  • It consists of a lipid bilayer with embedded transmembrane proteins and an underlying membrane protein skeleton that is attached to the bilayer via linker proteins.

  • The integrity of the membrane relies on vertical interactions between the skeleton and the bilayer, as well as on horizontal interactions within the membrane skeletal network.

ERYTHROCYTE MEMBRANE ABNORMALITIES

  • Inherited membrane protein defects disrupt the membrane architecture and alter the shape of the cell resulting in hemolytic anemia as illustrated in Figure 13–1.

  • Protein defects that compromise vertical interactions between the membrane skeleton and the lipid bilayer result in destabilization of the bilayer, loss of membrane microvesicles, and spherocyte formation.

  • Protein defects affecting horizontal protein interactions within the membrane skeletal network disrupt the skeleton, resulting in defective shape recovery and elliptocytes.

  • Red cell membrane disorders exhibit significant heterogeneity in their clinical, morphologic, laboratory, and molecular characteristics.

FIGURE 13–1

Blood films from patients with erythrocyte membrane disorders. A. Normal blood film. B. HS with dense spherocytes. C. SAO with large ovalocytes exhibiting a transverse ridge. D. HE with elongated elliptocytes and some poikilocytes. E. HSt with cup-shaped stomatocytes. F. Hereditary abetalipoproteinemia with acanthocytes. (Reproduced with permission from Lichtman’s Atlas of Hematology, www.accessmedicine.com.)

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Table 13–1 summarizes the relationship between red cell membrane proteins and disease phenotype.

TABLE 13–1ERYTHROCYTE MEMBRANE PROTEIN DEFECTS IN INHERITED DISORDERS OF RED CELL SHAPE
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TABLE 13–1 ERYTHROCYTE MEMBRANE PROTEIN DEFECTS IN INHERITED DISORDERS OF RED CELL SHAPE
Protein Disorder Comment
Ankyrin HS Most common cause of typical dominant HS
Band 3 HS, SAO, NIHF, HAc “Pincered” HS spherocytes seen on blood film presplenectomy; SAO results from 9 amino acid deletion
β-Spectrin HS, HE, HPP, NIHF “Acanthocytic” spherocytes seen on blood film presplenectomy; location of mutation in β-spectrin determines clinical phenotype
α-Spectrin HS, HE, HPP, NIHF Location of mutation in α-spectrin determines clinical phenotype; α-spectrin mutations most common cause of typical HE
Protein 4.2 HS Primarily found in Japanese patients
Protein 4.1 HE Found in certain European and Arab populations
GPC HE Concomitant protein 4.1 deficiency is basis of HE in GPC defects

GPC, glycophorin C; HAc, hereditary acanthocytosis; HE, hereditary elliptocytosis; HPP, hereditary pyropoikilocytosis; HS, hereditary spherocytosis; NIHF, nonimmune hydrops fetalis; SAO, Southeast Asian ovalocytosis.

Source: Williams Hematology, 9th ed, Chap. 46, Table 46–2.

HEREDITARY SPHEROCYTOSIS

Definition and Epidemiology

  • Hereditary spherocytosis (HS) is characterized by osmotically fragile, spherical erythrocytes.

  • HS occurs in all race ...

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