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Seminars in Hematology
Volume 41, Issue 2
, Pages 118-141
, April 2004
Hereditary spherocytosis—defects in proteins that connect the membrane skeleton to the lipid bilayer
References
-
.
De la microcythémie.
Bull R Acad Med Belg. 1871;5:515–613
- Frequent de novo monoallelic expression of β-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Br J Haematol. 1998;101:251–254
-
Parental mosaicism for ankyrin-1 mutations in two families with hereditary spherocytosis.
Blood. 1997;90:4a;
(suppl, abstr)
- β-Spectrin S(ta) Barbara (A novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism). Br J Haematol. 2001;115:347–353
- . Variable clinical severity of hereditary spherocytosis (Relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis). J Pediatr. 1990;117:409–416
- Clinical and molecular evaluation of non-dominant hereditary spherocytosis. Br J Haematol. 2001;112:42–47
- . Deficient red-cell spectrin in severe, recessively inherited spherocytosis. N Engl J Med. 1982;306:1155–1161
- Combination of two mutant α-spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest. 1996;98:2300–2307
- Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood. 2000;96:1602–1604
-
Dominant hereditary spherocytosis due to band 3 Neapolis produces a life-threatening anemia at the homozygous state.
Blood. 1998;92:9;
(abstr)
- Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood. 1987;69:156–159
- Hereditary spherocytosis associated with deletion of the human erythrocyte ankyrin gene on chromosome 8. Nature. 1990;345:736–739
- Assignment of the gene for β spectrin (SPTB) to chromosome 14q23-q24.2 by situhybridization. Cytogenet Cell Genet. 1990;53:232–233
- . Genetics of the red cell membrane skeleton. Semin Hematol. 1990;27:290–332
- . Hereditary spherocytosis in the elderly. Am J Med. 1988;84:513–516
-
.
Hereditary spherocytosis in 100 children.
Mayo Clin Proc. 1966;41:554–567
- . Studies on hereditary spherocytosis in Iceland. Acta Med Scand. 1977;201:187–195
- . Reticulocytes. Clin Lab Haematol. 1986;8:169–179
- Erythropoietin production and erythropoiesis in compensated and anaemic states of hereditary spherocytosis. Br J Haematol. 1996;92:150–154
- . Pregnancy and hereditary spherocytosis. Report of 8 patients and a review. Arch Gynecol Obstet. 1993;253:37–42
- Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature. 1985;314:308–383
- Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis. N Engl J Med. 1988;318:230–234
- Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Engl J Med. 1986;315:1579–1583
- . High prevalence of increased osmotic fragility of red blood cells among Norwegian donors. Scand J Haematol. 1981;27:30–34
- Prevalence of increased osmotic fragility of erythrocytes in German blood donors (Screening using a modified glycerol lysis test). Ann Hematol. 1992;64:88–92
- Pregnancy complicated by hereditary spherocytosis. Obstet Gynecol. 1992;79:735–738
- UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood. 1998;91:1093; (letter)
- Natural history of hereditary spherocytosis during the first year of life. Blood. 2000;95:393–397
-
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis.
BJH. 2000;1:146–152
- . Hematologic and hematopoietic consequences of B19 parvovirus infection. Semin Hematol. 1988;25:159–172
- Aplastische Krisen bei hereditärer Sphärozytose. Monatsschr Kinderheilkd. 1988;136:173–175
-
.
In: Parvovirus B19, in Red Book (Report of the Committee on Infectious Diseases). (ed 24). Elk Grove Village, IL: American Academy of Pediatrics; 1997;p. 383
- Reduction of plasma homocyst(e)ine levels by breakfast cereal fortified with folic acid in patients with coronary heart disease. N Engl J Med. 1998;338:1009–1015
- The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med. 1995;333:1171–1175
-
Co-inheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis.
Blood. 1998;92:470a;
(suppl, abstr)
- . Prophylactic splenectomy and cholecystectomy in mild hereditary spherocytosis (Analyzing the decision in different clinical scenarios). J Intern Med. 1998;244:217–226
- Screening for hereditary spherocytosis by use of automated erythrocyte indexes. J Pediatr. 1997;130:957–960
- Accurate and independent measurement of volume and hemoglobin concentration of individual red cells by laser light scattering. Blood. 1986;68:506–513
- . Red cell abnormalities in hereditary spherocytosis (relevance to diagnosis and understanding of the variable expression of clinical severity). J Lab Clin Med. 1996;128:259–269
- . Decreased membrane mechanical stability and in vivo loss of surface area reflect spectrin deficiencies in hereditary spherocytosis. J Clin Invest. 1988;82:617–623
- . Osmotic gradient ektacytometry (Comprehensive characterization of red cell volume and surface maintenance). Blood. 1983;61:899–910
- . Diagnosis of hereditary spherocytosis in newborn infants. J Pediatr. 1983;103:460–463
- Acidified glycerol lysis test (A screening test for spherocytosis). Br J Haematol. 1980;45:481–486
- Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Blood. 1993;82:2953–2960
-
In:
Combined amkyrin and spectrin deficiency in hereditary spherocytosis. 67:1993;p. 89–93
- . Killing the messenger (New insights into nonsense-mediated mRNA decay). J Clin Invest. 2002;109:3–6
- Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis. Blood. 1995;85:3278–3282
- Simultaneous (AC)n microsatellite polymorphism analysis and SSCP screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. Br J Haematol. 2003;122:669–677
- High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. J Pediatr. 1998;132:117–120
-
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Nature Genet. 1996;13:214–218
- Frequency of very late fatal sepsis after splenectomy for hereditary spherocytosis (Impact of insufficient antibody response to pneumococcal infection). Ann Hematol. 1999;78:524–528
- Late septic complications in adults following splenectomy for trauma (A prospective analysis in 144 patients). J Trauma. 1986;26:999–1004
- . Asplenic-hyposplenic overwhelming sepsis (Postsplenectomy sepsis revisited). Pediatr Dev Pathol. 2001;4:105–121
- . Postsplenectomy sepsis and its mortality rate (Actual versus perceived risks). Br J Surg. 1991;78:1031–1038
- Postsplenectomy sepsis and mortality in adults. JAMA. 1982;248:2279–2283
- . Estimating the risk for sepsis after splenectomy in hereditary spherocytosis. Ann Intern Med. 1995;122:187–188
- . Spherocytosis, splenectomy, strokes, and heat attacks. Lancet. 1997;350:1677–1678
- . Splenectomy and subsequent mortality in veterans of the 1939–45 war. Lancet. 1977;2:127
- Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Blood. 2001;97:399–403
- Follow-up of partial splenectomy in children with hereditary spherocytosis. J Pediatr Surg. 2002;37:1459–1463
-
Subtotale Splenektomie bei hereditärer Sphärozytose im Kindesalter.
Chir Gastroenterol. 2001;17(suppl):12–17
- Clinical and hematologic benefits of partial splenectomy for congenital hemolytic anemias in children. Ann Surg. 2003;237:281–288
- Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis. Blood. 1993;81:2014–2020
- Laparoscopic splenectomy (Outcome and efficacy in 103 consecutive patients). Ann Surg. 1998;228:568–578
-
.
Infektionsprophylaxe bei Asplenie.
Klin Pädiatrie 213 Sonderheft. 2001;1:1–4
-
.
Disorders of the red blood cell membrane.
In:
Handin RI, Lux SE, Stossel TP editor. Blood (Principles and Practice of Hematology). (ed 2). Philadelphia, PA: Lippincott Williams & Wilkins; 2003;p. 1709–1858
-
.
Hereditary spherocythosis.
In: Cell Membrane. Weinheim, Germany: Wiley-VCH; 2003;p. 173–212
- Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis. Haematologica. 1997;82:460–462
- Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. Br J Haematol. 1994;88:295–299
- Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol. 2000;71:118–135
- Ankyrin Napoli (A de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis). Br J Haematol. 1996;93:828–834
- Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: Three new ANK1 variants: Ankyrins Bari, Napoli II and Anzio. Br J Haematol. 1997;96:500–506
- . Spectrin assembly in avian erythroid development is determined by competing reactions of subunit homo- and hetero-oligomerization. Nature. 1986;321:85–89
- A nonsense mutation 1669Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. J Clin Invest. 1995;95:941–947
-
A two base pair deletion at position -72/-73 of the ankyrin-1 promoter associated with hereditary spherocytosis disrupts TFIID complex binding and decreases transcription of a linked reporter gene.
Blood. 2002;100:77;
(suppl, abstr)
-
Mutations at positions −108 and −153 of the erythroid ankyrin promoter decrease expression in transgenic mice by disrupting insular function.
Blood. 2002;100:78;
(suppl, abstr)
-
Hereditary spherocytosis with ankyrin Walsrode, a variant ankyrin with decreased affinity for band 3.
Blood. 1994;84:362a;
(suppl, abstr)
- Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. Br J Haematol. 1997;98:32–40
- Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. Blood. 1995;85:634–640
- Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3 PRAGUE). J Clin Invest. 1994;93:121–130
- . Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3- exchanger. J Biol Chem. 1998;273:28430–28437
- Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis. Br J Haematol. 1997;99:522–530
- Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell. 1996;86:917–927
- Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood. 1996;88:4366–4374
- Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. Nephrol Dial Transplant. 1997;12:1869–1873
- Band 3 Campinas (A novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling). Blood. 1997;90:2810–2818
- Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger. J Biol Chem. 1998;273:6380
- Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest. 1997;100:1693–1707
- Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest. 1996;97:1804–1817
-
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
Proc Natl Acad Sci USA. 1998;95:6337–6342
- . Clinical expression and laboratory detection of red blood cell membrane protein mutations. Semin Hematol. 1993;30:249–283
- Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane. J Clin Invest. 1988;81:893–901
- . Localization of the protein 4.1-binding site on the cytoplasmic domain of erythrocyte membrane band 3. J Biol Chem. 1992;267:9540–9546
- . Reductions of erythrocyte membrane viscoelastic coefficients reflect spectrin deficiencies in hereditary spherocytosis. J Clin Invest. 1988;81:133–141
- Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis (Evidence implicating a primary defect of ankyrin). Blood. 1991;77:165–173
- Amino-acid substitution in α-spectrin commonly coinherited with nondominant hereditary spherocytosis. Am J Hematol. 1997;54:233–241
-
The low expression α-spectrin LEPRA is frequently associated with autosomal recessive/nondominant hereditary spherocytosis.
Blood. 1996;88:4a;
(suppl, abstr)
- Molecular basis of spectrin deficiency in β-spectrin Durham. A deletion within β-spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest. 1995;96:2623–2629
- β-Spectrin Kissimmee (A spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1). J Clin Invest. 1993;92:612–616
- A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. N Engl J Med. 1982;307:1367–1374
- Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood. 1997;90:398–406
- . The role of membrane lipids in the survival of red cells in hereditary spherocytosis. J Clin Invest. 1969;48:736–744
- Separation of the lipid bilayer from the membrane skeleton during discocyte-echinocyte transformation of human erythrocyte ghosts. Eur J Cell Biol. 1989;49:358–365
- Adverse role of the spleen in hereditary spherocytosis (Evidence by the use of the atomic force microscope). Br J Haematol. 1992;80:264–265
- Temporal differences in membrane loss lead to distinct reticulocyte features in hereditary spherocytosis and in immune hemolytic anemia. Blood. 2001;98:2894–2899
- Differential control of band 3 lateral and rotational mobility in intact red cells. J Clin Invest. 1994;94:683–688
- Regulation of band 3 rotational mobility by ankyrin in intact human red cells. Biochemistry. 1998;37:17828–17835
- Increase in band 3 density and aggregation in hereditary spherocytosis. Blood Cells Mol Dis. 2001;27:399–406
- . A scanning electron microscopic study of the spleen. Blood. 1974;43:665–691
- . Microcirculation of the spleen (New concepts, new challenges). Microvasc Res. 1987;34:269–289
- Characterization of membrane-bound serine protease related to degradation of oxidatively damaged erythrocyte membrane proteins. Biochim Biophys Acta. 1998;1374:47–55
- . Effect of adrenal steroids in hereditary spherocytic anemia. J Lab Clin Med. 1956;47:602–610
- Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. Blood. 2002;100:2208–2215
-
.
Spontaneous and targeted mutations in erythrocyte membrane skeleton genes (Mouse models of hereditary spherocytosis).
In:
Zon LI editors. Hematopoiesis, a Developmental Approach. Oxford, UK: Oxford University Press; 2001;p. 582–609
- Mutations in the murine erythroid α-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton. Blood. 2003;101:325–330
- Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Blood. 1997;90:4610–4619
- Hematopoietic cells from α-spectrin-deficient mice are sufficient to induce thrombotic events in hematopoietically ablated recipients. Blood. 1998;92:4856–4863
- . Spectrin deficient inherited hemolytic anemias in the mouse (Characterization by spectrin synthesis and mRNA activity in reticulocytes). Cell. 1984;40:959–969
- Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal and nb/nb mice. Blood. 1993;81:2144–2149
- Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol. 1991;114:1233–1241
- Targeted inactivation of murine band 3 (AE1) gene produces a hypercoagulable state causing widespread thrombosis in vivo. Blood. 1998;92:1785
-
A QTL on mouse chromosome 12 modifies the band 3 null phenotype (β spectrin is a candidate gene).
Blood. 2001;98:437a;
(suppl, abstr)
-
Cloning of the zebrafish retsina blood mutation (Mutations in erythroid band 3 in dyserythropoiesis and cytokinesis defects).
Blood. 2000;96:440a;
(suppl, abstr)
- Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid β-spectrin structure, and function in red cell morphogenesis and membrane stability. Development. 2000;127:5123–5132
- Characterization of zebrafish merlot/chablis as non-mammalian vertebrate models for severe congenital anemia due to protein 4.1 deficiency. Development. 2002;129:4359–4370
☆ S.E. is supported by the Deutsche Forschungsgemeinschaft (DFG 99/6–1+2). S.E.L. is supported by Grants No. R01 DK34083 and P01 HL32262 from the National Institutes of Health.
PII: S0037-1963(04)00003-4
doi: 10.1053/j.seminhematol.2004.01.002
© 2004 Elsevier Inc. All rights reserved.
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Seminars in Hematology
Volume 41, Issue 2
, Pages 118-141
, April 2004
