Portada Simposios - Supplements - Haematologica

More documents

Recommendations

Info

264 <strong>Haematologica</strong> (ed. esp.), volumen 85, supl. 2, octubre 2000 tropoyesis ineficaz, debido al acúmulo de uroporfirina I en el eritroblasto. No hay que destacar sin embargo la existencia de un componente hiporregenerativo. El mejor conocimiento de los genes implicados permitirá en el futuro aclarar estos puntos. Por otra parte, la identificación de la lesión molecular en el ADN de cada paciente facilitará establecer una buena correlación genotipo/fenotipo y avanzar en el pronóstico y tratamiento de cada enfermo. Bibliografía 1. Mollin DL. Sideroblasts and sideroblastic anaemia. Br J Haematol 1965; 11: 41. 2. Goodman JR, Hall SG. Accumulation of iron in mitochondria of erythroblasts. Br J Haematol 1967; 13: 335. 3. Cooley TB. A severe type of hereditary anemia with elliptocytosis. Interesting sequence of splenectomy. Am J Med Sci 1645; 209: 561. 4. Bottomley SS. Porphyrin and iron metabolism in seroblastic anemia. Semin. Hematol 1977; 14: 169. 5. Konopka L, Hoffbrand AV. Haem synthesis in sideroblastic anaemia. Br J Haematol 1979; 42: 73. 6. Bisop DF, Kitchen H, Wood WA. Evidence for erythroid and nonerythroid forms of deltaaminolvulinate synthease. Arch Biochem Biophys 1981; 206: 380. 7. Yamamoto M, Fujita H, Watanabe N, Hayashi H, Kikuchi G. An immunolical study of delta-aminolevulinate synthase and delta-aminolevulinate dehydratase in liver and erythroid cells of rat. Arch Biochem Biophys 1986; 245: 76. 8. Bishop DF. Two different genes encode delta-aminolevulinate synthase in humans: Nucleotide sequences of cDNAs for the housekeeping and erythroid genes. Nucleic Acids Res 1990; 18: 7187. 9. Cotter PD, Willard HF, Gorski JL, Bishop DF. Assignment of human erythorid deltaaminolevulinate synthase (ALS2) to a distal subregion of band Xp 11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. Genomics 1992; 13: 211. 10. Bishop DF, Henderson AS, Astrin KH. Human delta-aminolevulinate synthase: Assignement of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome. Genomics 1990; 7: 207. 11. Cotter PD, Baumann M, Bishop DF. Enzymatic defect in “X-linked” sideroblastic anemia: Molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci USA 1992; 89: 1028. 12. Cotter PD, Rucknagel DL, Bishop DF. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood 1994; 84: 3915. 13. Cotter PD, May A, Fitzsimons EJ, Houston T, Woodcock BE, Al-Sabah AI, Wong L, Bishop DF. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosedf with acquired refractory anemia and ringed sideroblasts. J Clin Invest 1995; 96: 2090. 14. Furuyama K et al. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. Blood 1997; 90: 822. 15. Cotter PD, May A, Li L, Al-Sabah, Fitzsimons EJ, Cazzola M, Bishop DF. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overloadby phenbotomy and coinheritance of hereditary hemochromatosis. Blood 1999; 93: 1757. 16. Harigae H, Furuyama K, Kudo K, Hayashi N, Yamamoto M, Sassa S, Sasaki T. A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. Am J Hematol 1999; 62: 112. 17. Prades E, Chambon C, Dailey TA, Dailey HA, Brière J, Grandchamp B. A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. Hum Genet 1995; 95: 424. 18. Cox Tc, Bottomley SS, Wilei JS, Bawden MJ, Matthews CS, May BK. X-linked pyridosine-responsive siderobasltic anemia due to a thr388-toser sustitution in erythroid 5-aminolevulinate synthase. New Eng J Med 1994; 330: 675. 19. Furuyama K, UnoR, Urabe A, Hayashi N, Fujita H, Kondo M, Sassa S, Yamamoto M. R411C mutation of the ALAs2 gene encodes a pirydoxine-responsive ezyme with low activity. Br J Haematol 1998; 103: 839. 20. Edgar AJ, losowsky MS, Noble JS, Wickramasinghe SN. Identification od an arginine452 to histidine substotution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia. Eur J Haematol 1997; 58: 1. 21. Edgar AJ, Wickramasinghe SN. Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. Br J Haematol 1998; 100: 389. 22. Edgar AJ, Vidyatolake HM, Wickramasinghe SN. X-linked sideroblastic anaemia due to a mutation in the eryhroid 5-aminoevulinate synthase gene leading to an arginine 170 to leucine substitution. Eur J Haematol 1998; 61: 55. 23. Harigae H etal. A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. Br J Haematol 1999; 106: 175. 24. Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum MolGenet 1999; 8: 743. 25. Pagon RA, Bird TD, Detter JC, Pierce I. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet 1985; 22: 267. 26. Lee Gr, McDiarmid WD, Cartwright GE, Wintrobe MM. Hereditary X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content. Blood 1968; 32: 59. 27. Amos RJ, Miller ALC, Amess Jal. Autosomal inheritance of sideroblastic anaemia. Clin Lab Haematol 1988; 10: 347. 28. Kasturi J, Basha HM, Smeda SH, Swhli M. Hereditary sideroblastic anaemia in 4 siblings of a Libyan famili-autosomal inheritance. Acta Haematol (Basel) 1982; 68: 321. 29. Hamel BCJ, Schretlen EDAm. Sideroblastic anaemia. A review of seven paediatric cases. Eur J Pediatr 1982; 138: 130. 30. Fujita H etal. Erythroleukemia differentiation: Distinctive responses of the erythroid-specific and the nonspecific delta.-aminolevulinate mRNA. J Biol Chem 1991; 266: 17494. 31. Conboy JG, Cox TC, Bottomley SS, Bawden MJ, May BK. Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing. J Biol Chem 1992; 267: 18753. 32. Pearson Ha et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976. 33. Larsson Ng, Holme, KristianssonB, Oldfors A, Tulinius M. Progressive increase of the mutated mitochondrial DNA Fraction in Kearns-Sayre syndrome. Pediatr Res 1990; 28: 131. 34. Simonsz HJ, Barlocher K, Rotig A. Kearns-Sayre’s syndrome developing in a boy who survived Perarson’s syndrome caused by mitochondrial DNA deletion. Doc Ophthalmol 1992; 82: 73. 35. Porteous WK, James AM, Sheard PW, Porteous CM, Packer MA, Hyslop SJ, Melton JV, Pang CY, Wei YH, Murphy MP. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem 1998; 257: 192. 36. Desnick RJ, Glass IA, XU W, Solís C, Astrin KH. Molecular genetics of congenital erythropoietic porphyria. Sem Liv Dis 1998; 18: 77. 37. Mathews-Roth MM. Anemia in erythopoietic protoporphyria. JAMA 1974; 230: 824. 38. Lamoril J etal. Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis. Blood 1998; 91: 1453. 39. Nordmann Y, Amran D, Deybach JC, Phung LN, Lesbros D. Coexistent hereditary coproporphyria and congenital erythopoietic porphyria (Günther disease). J Inher Metab Dis 1990; 13: 687. CLINICAL AND MOLECULAR ASPECTS OF CONGENITAL DYSERYTHROPOIETIC ANEMIAS A. IOLASCON Dpt. of Biomedicine of Evolutive Age – CISME. University of Bari. Bari, Italy Dyserythropoiesis is the term used to describe any alteration of the normal differentiation-proliferation pathway of the erythroid lineage. This could represent a physiological condition (i.e.: during the neonatal period) or a disease (nutritional anemias; myelodysplastic syndromes; liver disease; PNH; AIDS and malaria; post bone marrow transplantation and chemotherapy). The latter could be the principal (CDA) or a secondary characteristic (thalassemia syndromes; unstable hemoglobins or thiamine-responsive anemias) 1 . The congenital dyserythropoietic anemias (CDA) comprise a group of hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and distinct
XLII Reunión Nacional de la AEHH y XVI Congreso de la SETH. <strong>Simposios</strong> 265 Table 1. Classification and distinguishing features of Congenital Dyserythropoietic Anemias (CDAs) Type Clinical features Morphology Inheritance I Anemia with neonatal appearance; jaundice, splenomegaly; rare syndactyly Common complication: hemochromatosis Anemia; jaundice; splenomagaly Hemochromatosis Gallstones Anemia mild to moderate; jaundice Gammopathy Severe or transfusion-dependent anemia with neonatal or infant appearance Megaloblastoid erythroid hyperplasia; nuclear bridges. ME: spongy-appearing nuclei and invagination of the cytoplasm in the nucleus 2-4 nucleated late erythroblasts Karyorrhexis Auto-recessive Locus: 15q15.1-15.3 II Auto-recessive 20q11.2 III Giant multinucleated erythroblasts Dominant 15q22 IV Marked normoblastic erythroid hyperplasia with a slight to moderate increase in the proportion of erythroblasts with very irregular or karyorrhectic nuclei. ME: Absence of precipitated protein within erythroblasts Marked normoblastic/slightly megaloblastic erythroid hyperplasia with little or no erythroid dysplasia Erythroid hyperplasia with vitamin B 12 -and folate-independent florid megaloblastic erythropoiesis Severe normoblastic erythroid hyperplasia with marked abnormalities in nuclear shape in many erythroblasts ME: Intraerythroblastic inclusions resembling precipitated -or -globin chains Recessive V Low grade anemia Jaundice with predominantly unconjugated hyperbilirubinaemia Normal or near-normal Hb with Marked macrocytosis Autosomal dominant or recessive VI Unknown VII Severe anemia with neonatal appearance and transfusion dependence Splenomegaly Normal MCV Recessive (probably) morphological abnormalities of the majority of erythroblasts in the bone marrow. Although a few reports had been published under various terms before, the first by Sansone from Genoa in 1949 2 , it was H. Heimpel that introduced this term in 1966, when he observed a pair of nonidentical 16 year old twin sisters with macrocytic anemia since early childhood, moderate splenomegaly and all laboratory findings of ineffective erythropoiesis. In the bone marrow, there was excessive erythroid hyperplasia with unusual morphological changes of almost all erythroblasts 3 . Heimpel proposed to preliminary classify these disorders into three types. These first classical types (I-III) differ in bone marrow erithroid morphology as well in the inheritance pattern (table 1). This classification since its appearance showed its limitated applicability and in fact there were some dyserythropoiesis that not fulfilled these strict diagnostic criteria causing the appearance of new groups (groups IV-VII). In the Wickramasinghe studies 4 approximately one third of dyserytropoietic anemias are types other than I-III. Recently he identifies four additive groups reported in table 1. However it is noteworthy that each group may be genetically heterogeneous and that the group is proposed on the basis of the common phenotypic appearance. CDA-I The clinical picture of CDA-I was quite variable. The age at diagnosis varied from birth to early adulthood. Tamary observed the largest group of these patients (mainly of bedouin origin) and she demonstrated that the vast majority of the them with CDA type I were symptomatic during the neonatal period. Their manifestations included anemia, early jaundice, hepatosplenomegaly and cardiac manifestations. No bone abnormality was observed out of
Page 1 and 2:
Haematologic established in 1920 ed
Page 3 and 4:
VIII Haematologica (ed. esp.), volu
Page 5 and 6:
PROGRAMA EDUCACIONAL Coordinadores:
Page 7 and 8:
4 Haematologica (ed. esp.), volumen
Page 9 and 10:
Page 11 and 12:
Page 13 and 14:
10 Haematologica (ed. esp.), volume
Page 15 and 16:
Page 17 and 18:
HEMORRAGIA Y TROMBOSIS EN LOS SÍND
Page 19 and 20:
Page 21 and 22:
Page 23 and 24:
Page 25 and 26:
Page 27 and 28:
THE ROLE OF CYTOGENETICS IN THE NEX
Page 29 and 30:
Page 31 and 32:
Page 33 and 34:
Page 35 and 36:
CONTROVERSIAS EN EL PRONÓSTICO Y E
Page 37 and 38:
Page 39 and 40:
Page 41 and 42:
INACTIVATION OF VIRUSES, BACTERIA,
Page 43 and 44:
Page 45 and 46:
Page 47 and 48:
Page 49 and 50:
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
Page 59 and 60:
Page 61 and 62:
Page 63 and 64:
ADVANCES IN APPLICATION OF THE HLA
Page 65 and 66:
XIII LECCIÓN CONMEMORATIVA ANTONIO
Page 67 and 68:
Page 69 and 70:
VULNERABLE PLAQUES AND ACUTE HEART
Page 71 and 72:
TRASPLANTE ALOGÉNICO NO MIELOABLAT
Page 73 and 74:
XLII Reunión Nacional de la AEHH y
Page 75 and 76:
Page 77 and 78:
Page 79 and 80:
Page 81 and 82:
Page 83 and 84:
Page 85 and 86:
Page 87 and 88:
Page 89 and 90:
Page 91 and 92:
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
Page 101 and 102:
Page 103 and 104:
Page 105 and 106:
Page 107 and 108:
Page 109 and 110:
Page 111 and 112:
Page 113 and 114:
Page 115 and 116:
Page 117 and 118:
Page 119 and 120:
Page 121 and 122:
Page 123 and 124:
Page 125 and 126:
Page 127 and 128:
Page 129 and 130:
Page 131 and 132:
Page 133 and 134:
Page 135 and 136:
Page 137 and 138:
Page 139 and 140:
Page 141 and 142:
Page 143 and 144:
Page 145 and 146:
Page 147 and 148:
Page 149 and 150:
Page 151 and 152:
Page 153 and 154:
ESTADO ACTUAL DEL DIAGNÓSTICO Y TR
Page 155 and 156:
Page 157 and 158:
Page 159 and 160:
Page 161 and 162:
Page 163 and 164:
Page 165 and 166:
Page 167 and 168:
Page 169 and 170:
BANCO DE SANGRE: SEGURIDAD EN DONAC
Page 171 and 172:
Page 173 and 174:
Page 175 and 176:
Page 177 and 178:
Page 179 and 180:
Page 181 and 182:
Page 183 and 184:
Page 185 and 186:
Page 187 and 188:
Page 189 and 190:
Page 191 and 192:
Page 193 and 194:
Page 195 and 196:
Page 197 and 198:
Page 199 and 200:
Page 201 and 202:
Page 203 and 204:
Page 205 and 206:
Page 207 and 208:
Page 209 and 210:
Page 211 and 212: XLII Reunión Nacional de la AEHH y
Page 235 and 236: CLUB ESPAÑOL DE CITOLOGÍA HEMATOL
Page 261: XLII Reunión Nacional de la AEHH y
Page 283 and 284: CASOS CLÍNICO-CITOLÓGICOS CLUB ES
Page 297 and 298: EL PAPEL DEL DIAGNÓSTICO POR LA IM
Page 303 and 304: EL LABORATORIO DE HEMATOLOGÍA: UNI
Page 309: XLII Reunión Nacional de la AEHH y
show all

Portada Simposios - Supplements - Haematologica

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?