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684            Part VI:  The Erythrocyte                                                                                                                                  Chapter 46:  Erythrocyte Membrane Disorders              685




               to elevated total monovalent cation content. The OF of stomatocytes is   stomatocytosis at the doses used for chemotherapy of leukemias and
               markedly increased because many of the swollen red cells approach their   lymphomas.  Transient stomatocytosis has been observed in long dis-
                                                                               189
               critical hemolytic volume, which causes a shift of the osmotic gradient   tance runners immediately after a race. The molecular basis of acquired
               ektacytometer curve to the right. Red cell deformability is decreased.  stomatocytosis is unknown. 13
               Therapy, Course, and Prognosis                         REFERENCES
               The majority of hydrocytosis patients suffer from significant lifelong
               anemia. They should be monitored for complications of hemolysis, such     1.  Jakobik V, Burus I, Decsi T: Fatty acid composition of erythrocyte membrane lipids in
                                                                         healthy subjects from birth to young adulthood. Eur J Pediatr 168:141, 2009.
               as cholelithiasis and parvovirus infection, and should receive folate     2.  Ways P, Hanahan DJ: Characterization and quantification of red cell lipids in normal
               supplementation. The outcome of splenectomy has been variable, but   man. J Lipid Res 5:318, 1964.
               typically it has been beneficial and improved the hemolytic anemia     3.  Mulder E, Van Deenen LLM: Incorporation in vitro of fatty acids into phospholipids
                                                                         from mature erythrocytes. Biochim Biophys Acta 106:106, 1965.
                                    13
               in severely affected patients.  This is expected because stomatocytes     4.  Daleke DL: Regulation of phospholipid asymmetry in the erythrocyte membrane. Curr
               expend large amounts of ATP to pump cations in an attempt to avoid   Opin Hematol 15(3):191, 2008.
               osmotic lysis and are, therefore, vulnerable in the metabolically chal-    5.  Devaux PF, Herrmann A, Ohlwein N, et al: How lipid flippases can modulate mem-
               lenging environment of the spleen. However, splenectomy should be   brane structure. Biochim Biophys Acta 1778(7–8):1591, 2008.
               carefully considered in patients with this disorder, since they are at high     6.  Sahu SK, Gummadi SN, Manoj N, et al: Phospholipid scramblases: An overview. Arch
                                                                         Biochem Biophys 462:103, 2007.
               risk of developing hypercoagulability after splenectomy, leading to cata-    7.  Salzer U, Prohaska R: Stomatin, flotillin-1, and flotillin-2 are major integral proteins of
               strophic thrombotic episodes. 13                          erythrocyte lipid rafts. Blood 97(4):1141, 2001.
                                                                        8.  Murphy SC, Samuel BU, Harrison T, et al: Erythrocyte detergent-resistant membrane
                                                                         proteins: their characterization and selective uptake during malarial infection. Blood
                                                                         103(5):1920, 2004.
               CRYOHYDROCYTOSIS                                         9.  Fairbanks G, Steck TL, Wallach DFH: Electrophoretic analysis of the major polypep-
               The  clinical  phenotype  and  biochemical  features  of  some  patients   tides of the human erythrocyte membrane. Biochemistry 10(13):2606, 1971.
               with  stomatocytes  are  intermediate  between  the  extremes  of  heredi-    10.  Pasini EM, Kirkegaard M, Mortensen P, et al: In-depth analysis of the membrane and
                                                                         cytosolic proteome of red blood cells. Blood 108(3):791, 2006.
               tary hydrocytosis and hereditary xerocytosis. One of these disorders is     11.  Van den Akker E, Satchwell TJ, Williamson RC, et al: Band 3 multiprotein complexes in
               cryohydrocytosis in which the mild cation leak is markedly enhanced   the red cell membrane; of mice and men. Blood Cells Mol Dis 45(1):1, 2010.
               at low temperatures. It is a very rare condition associated with mild     12.  Fujinaga J, Tang X-B, Casey JR: Topology of the membrane domain of human erythro-
                                                                         cyte anion exchange protein, AE1. J Biol Chem 274(10):6626, 1999.
               to moderate hemolytic anemia and splenectomy appears to be benefi-    13.  Walensky Loren D, Narla Mohandas Lux SE: Disorders of the red blood cell membrane,
               cial.  Missense mutations have been found in the transmembrane sec-  in Blood: Principles and Practice of Hematology, 2nd ed., edited by Handin RI, Lux SE,
                  175
               tion of band 3 that cluster between membrane span eight and the last   Stossel TP, p 1709. Lippincott Williams & Wilkins, New York, 2003.
               two membrane-spanning domains. 184–186  In vitro studies indicated that     14.  Sterling D, Reithmeier RAF, Casey JR: A transport metabolon: Functional interaction of
                                                                         carbonic anhydrase II and chloride/bicarbonate exchangers. J Biol Chem 276(51):47886,
               the mutant proteins have lost their anion exchange capability and are   2001.
               converted to a nonselective cation channel. 175,186,187    15.  Zhang D, Kiyatkin A, Bolin JT, et al: Crystallographic structure and functional interpre-
                   Two cases of cryohydrocytosis and stomatin deficiency have been   tation of the cytoplasmic domain of erythrocyte membrane band 3. Blood 96(9):2925,
                                                                         2000.
               described with mutations in GLUT-1, which abolish the glucose trans-    16.  Chu H, Low PS: Mapping of glycolytic enzyme-binding sites on human erythrocyte
               port function of the protein and create a cation leak. 188  band 3. Biochem J 400(1):143, 2006.
                                                                        17.  Low PS, Waugh SM, Zinke K, et al: The Role of hemoglobin denaturation and band 3
                                                                         clustering in red blood cell aging. Science 227(4686):531, 1985.
               OTHER STOMATOCYTIC DISORDERS                             18.  Pasternack GR, Anderson RA, Leto TL, et al: Interactions between protein 4.1 and band
                                                                         3. An alternative binding site for an element of the membrane skeleton. J Biol Chem
               Rh-deficiency syndrome designates rare individuals who either lack all   260(6):3676, 1985.
               Rh antigens (Rh ) or exhibit markedly reduced (Rh mod ) Rh antigen     19.  Salomao M, Zhang X, Yang Y, et al: Protein 4.1R-dependent multiprotein complex: New
                            null
               expression. Rh antigens are carried on RhCE and RhD proteins that   insights into the structural organization of the red blood cell membrane. Proc Natl Acad
                                                                         Sci U S A 105(23):8026, 2008.
               associate with RhAG and enable the formation of the Rh multiprotein     20.  Rybicki AC, Musto S, Schwartz RS: Identification of a band-3 binding site near the
               complex in the red cell membrane. The Rh complex is either absent or   N-terminus of erythrocyte membrane protein 4.2. Biochem J 309:677, 1995.
               markedly reduced in patients with Rh deficiency syndrome and they     21.  Anong WA, Franco T, Chu H, et al: Adducin forms a bridge between the erythrocyte mem-
                                                                         brane and its cytoskeleton and regulates membrane cohesion. Blood 114(9):1904, 2009.
               present with mild to moderate hemolytic anemia. Stomatocytes and     22.  Lee G, Abdi K, Jiang Y, et al: Nanospring behaviour of ankyrin repeats.  Nature
               occasional spherocytes are seen on the blood film and the cells have cat-  440(7081):3, 2006.
               ion transport abnormalities, which cause dehydration. Hemolytic ane-    23.  Michaely P,  Bennett V:  The  ANK repeats of erythrocyte ankyrin form two  dis-
               mia is improved by splenectomy. 13,175  Chapter 136 reviews the structure,   tinct but cooperative binding sites for the erythrocyte anion exchanger. J Biol Chem
                                                                         270(37):22050, 1995.
               localization, and functions of the Rh antigens.          24.  Bruce LJ, Beckmann R, Ribeiro ML, et al: A band 3-based macro complex of integral
                   Familial deficiency of high-density lipoproteins is a rare condition   and peripheral proteins in the RBC membrane. Blood 101(10):4180, 2003.
               that leads to accumulation of cholesteryl esters in many tissues, result-    25.  Williamson RC, Toye AM: Glycophorin A: Band 3 aid. Blood Cells Mol Dis 41(1):35,
                                                                         2008.
               ing in clinical findings of large orange tonsils and hepatosplenomegaly.     26.  Schofield AE, Martin PG, Spillett D, et al: The structure of the human red blood cell
               Hematologic manifestations include moderately severe hemolytic ane-  anion exchanger (EPB3, AE1, band 3) gene. Blood 84(6):2000, 1994.
               mia with stomatocytosis. Red cell membrane lipid analyses revealed a     27.  Rearden A, Magnet A, Kudo S, et al: Glycophorin B and glycophorin E genes arose from
               low cholesterol content and a relative increase in phosphatidylcholine at   the glycophorin A ancestral gene via two duplications during primate evolution. J Biol
                                                                         Chem 268(3):2260, 1993.
               the expense of sphingomyelin. 13                         28.  Cartron JP, Le Van Kim C, Colin Y: Glycophorin C and related glycoproteins: structure,
                                                                         function and regulation. Semin Hematol 30:152, 1993.
                                                                        29.  Bennett V, Healy J: Organizing the fluid membrane bilayer: diseases linked to spectrin
               ACQUIRED STOMATOCYTOSIS                                   and ankyrin. Trends Mol Med 14(1):28, 2008.
                                                                        30.  Thomas GH, Newbern EC, Korte CC, et al: Intragenic duplication and divergence in the
               Normal individuals have up to 3 percent stomatocytes on blood films.   spectrin superfamily of proteins. Mol Biol Evol 14(12):1285, 1997.
               Acquired stomatocytosis is common in alcoholics particularly those     31.  Grum VL, Li D, MacDonald RI, et al: Structures of two repeats of spectrin suggest
                                                                         models of flexibility. Cell 98(4):523, 1999.
               with acute alcoholism. Vinca alkaloids, such as vincristine and vinblas-    32.  Speicher DW, Marchesi VT: Erythrocyte spectrin is comprised of many homologous
               tine,  may induce hemolysis with increased sodium permeability and   triple helical segments. Nature 311(5982):177, 1984.






          Kaushansky_chapter 46_p0661-0688.indd   684                                                                   9/17/15   6:42 PM
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