TALASSEMIA
Alcuni riferimenti bibliografici consigliati dagli Autori
Talassemia: eziologia, epidemiologia, genetica
Cooley T.B.: Anemia in children with splenomegaly and peculiar changes in the bones.
Am. J. Dis. Child. XXXIV, 347-363, 1927.
Zuelzer W.W.: Thomas B. Cooley (1875-1945). J. Pediatr. IL, 642-650, 1965.
Weatherall D.J.: Toward an understanding of the molecular biology of some common inherited
anemias: the story of thalassemia. In: "Blood, Pure and Eloquent", M.M. Wintrobe
(ed), McGraw-Hill, New York, 373-414, 1980.
Chini V., Valeri C.M.: Mediterranean hemopatic syndromes. Blood, 989-1013, 1949.
Whipple G.H., Bradford W.L.: Mediterranean disease-thalassemia (erythroblastic anemia of
Cooley). J. Pediatr. IX, 279-311, 1936.
Astaldi G. et al.: La talassemia; morbo di Cooley e forme affini. Tip. del Libro,
Pavia,1951.
Bannermann R.M.: Thalassemia; a survey of some aspects, Grune and Stratton, New York,
373-414, 1961.
Hammond D. et al.: Definition of Cooley's trait or thalassemia minor; classical, clinical
and routine laboratory hematology. Ann. N. Y. Acad. Sci. CXIX, 372-389, 1964.
Orsini A.: Les thalassémies. Nouv. Presse Méd. II, 2089-2092, 1973.
Angelini V.: Primi risultati di ricerche ematologiche nei familiari degli ammalati di
anemia di Cooley. Minerva Medica XLIII, 331-332, 1937.
Caminopetros J.: Recherches sur l'anémie érythroblastique infantile des peuples de la
Méditerranée orientale; étude anthropologique, étiologique et pathogénique; la
transmission héréditaire de la maladie. Ann. Méd. XLIII, 27-61-104-125, 1938.
Valentine W.N., Neel J.V.: Hematologic and genetic study of transmission of thalassemie
(Cooley's anemia; Mediterranean anemia). Arch. Intern. Med. LXXIV, 185-196, 1944.
Lehmann H.: Variations in human hemoglobin synthesis and factors governing their
inheritance. Brit. Med. Bull. XV, 40-46, 1959.
Rucknagel D.L.: Current concepts of the genetics of thalassemia. Ann. N. Y. Acad. Sci.
CXIX, 436-449, 1964.
Fessas Ph.: Forms of thalassemia. In: "Abnormal Hemoglobins", Jonxis J.H.P. and
Delafresnaye J.F. (eds), Blackwel, Oxford, 1959.
Fiehrer A.: Les nouvelles données sur les anémies méditerranéennes: les beta et
alpha-thalassémies. In. Rev. Path. Comp. LXIV, 273-280, 1964.
Schapira G., Dreyfus J.C. et al.: Pathologie moléculaire, Paris, Masson, 1975.
Charokopos S.: Considérations sur l'anémie de Cooley chez l'enfant grec. Pédiatrie,
535-538, 1955.
Whipple G.H., Bradford W.L.: Racial and familial anemia of children. Am. J. Dis. Child.,
44, 336, 1932.
Cooley T.B., Lee P.: A series of cases of splenomegaly in children with anemia and
peculiar bone changes. Am. J. Dis. Child., 30, 447, 1925.
Rietti F.: Sugli itteri emolitici primitivi. Atti Accad. Sci. Med. Nat., Sez. II, (2), 14,
Ferrara, 1925.
Ortolani M.: Anemia di Cooley e altre sindromi eritroblastiche dell'infanzia. Clin.
Pediatr., 23, 45, 1941.
Ravenna F., Canella C.: Una forma nuova di grave anemia infantile associata ad osteoporosi
diffusa. Policlinico Sez. Prat., 41, 807, 1934.
Caminopetros J.: L'anémie erythroblastique. Monographies. Acad. d'Athènes,6 (3), 1937.
Silvestroni E., Bianco I.: Prime osservazioni di resistenze globulari aumentate in
soggetti sani e rapporto fra questi soggetti e i malati di cosiddetto itterro emolitico
con resistenze globulari aumentate. Boll. Atti. Accad. Med. Roma, 69, 293, 1943.
Silvestroni E., Bianco I.: Microcitemie e morbo di Cooley. Boll. Atti Accad. Med. Roma,
71, 3, 1945-46.
Silvestroni E., Bianco I.: Ricerche sull'etiopatogenesi del morbo di Cooley. Minerva
Medica, 2, 290, 1946b.
Silvestroni E., Bianco I.: La microcitemia: contributi personali in 25 anni di lavoro e di
studio. Policlinico Sez. Prat., 75, 1645, 1968.
Silvestroni E.: L'organizzazione sanitaria per la lotta contro le microcitemie in Italia.
Atti Giornate Studio su "Il Problema Sociale della Microcitemia e del Morbo di Cooley
in Italia". Ist. It. Med. Soc. Ed., Roma, 5, 1961.
Rhinesmith H.S., Schroeder W.A., Pauling L.: A quantitative studing of hydrolysis of human
dinitrophenyl (DNP) globin: the number and kind of polypeptide chains in normal adult
hemoglobin. J. Am. Chem. Soc., 79, 4682, 1957.
Nathan D.G., Gunn R.B.: Thalassemia: the consequences of unbalanced hemoglobin synthesis.
Am. J. Med., 41, 815, 1966.
Kacian D.L., Spiegelman et al.: In vitro synthesis of DNA components of human genes for
globin. Nature, 235, 167, 1972.
Brancati C., Tagarelli A.: Thalassemia types in Calabria (Southern Italy). In:
"Thalassemia: Recent Advances and Treatment", A. Cao and U. Carcassi (ed), Alan
R. Liss (publ), Vol. 18, N. 7, New York, 1982. pp. 147-155.
Carcassi U.: Frequenza della microcitemia e del morbo di Cooley in Sardegna. Atti Giornate
di Studio su " Il problema sociale della Microcitemia e del Morbo di Cooley",
Ist. It. Med. Soc. Ed.,1, 78, Roma, 1961.
Silvestroni E., Bianco I., Sulla frequenza della microcitemia nel Ferrarese e in alcune
altre regioni d'Italia. Policlinico Sez. Prat., 55, 417, 1948.
Silvestroni E., Bianco I.: dati statistici sulla frequenza della microcitemia e del morbo
di Cooley nella Sardegna meridionale. Nuovi Ann. Ig. Microbiol., 11, 339, 1960c.
Mazza U., Ciocca Vasino M.A. et al.: Diffusione efrequenza della microcitemia in Italia.
VI Congr. Intern. su " La prevenzione delle malattie microcitemiche", Minerva
Medica, 51, Roma, 1980.
Polli L., Bestetti A., Rossi U.: Aspetti sociali della microcitemia nelle zone industriali
del Nord Italia, oggi. la provincia di Milano. Atti Giornate Studio sulla Microcitemia,
Ist. It. Med. Soc., 1 , 81, 1965.
Modiano G., Rossi Mori A.: Distribuzione teorica e frequenza del morbo di Cooley in
Italia. VI Congr. Intern. su "La prevenzione delle malattie microcitemiche",
Minerva Medica, 61, Roma, 1980.
Vella F.: The frequency of thalassemia minor in the maltese islands. Acta Haematol., 27,
278, 1962.
Del Vecchio V., Ciocca F.: La microcitemia e il morbo di Cooley nel mondo. Atti Giornate
di Studio su "Il Problema sociale della microcitemia e del morbo di Cooley",
Ist. It. Med. Soc., 1 , 19, Roma, 1981.
Chatterjea J.B.: Haemoglobinopathy in India. Abnormal Haemoglobins. Jonxis J.H.P. and
Delafresnaye J.F. (eds), Blackwell Scient. Publ., 322, Oxford, 1959.
Lie-Injo L.E.: Pathological hemoglobins in indonesia. Abnormal Haemoglobins. Jonxis
J.H.P.and Delafresnaye J.F.(eds), Blackwell Scient. Publ., 368, Oxford, 1959.
Na-Nakorn S.: Haemoglobinopathies in Thailand. Abnormal Haemoglobins. Jonxis J.H.P.and
Delafresnaye J.F. (eds), Blackwell Scient. Publ., 357, Oxford, 1959.
Weatherall D.J., Clegg J.B.: The Thalassemia Syndromes. Blackwell Scient. Publ., Third
Edition, 1981.
Vella F.: The haemoglobinopathies in the Sudan. Abnormal Haemoglobns in Africa. Jonxis
J.H.P. (ed), Blackwell Scient. Publ., 339, Oxford, 1965.
Olensen E.B., Olensen K. et al.: Thalassemia in Liberia. Br. J. Med. i, 1385, 1959.
Bianco I., Graziani B., Carboni C.: Genetic patterns in thalassemia intermedia
(Costitutional Microcytic Anemia)-Familial, Hematologic and Biosynthetic Studies. Hum.
Hered., 27, 257, 1977.
Beaven G.H., Stevens B.L. et al.: Studies on foetal haemoglobin. IV. Thalassemia-like
conditions in Brithish families. Br. J. Haemat., 10, 1, 1964.
Knox-Macaulay H.H.M., Weatherall D.J. et al.: Thalassemia in the British. Br. Med. J., 3,
150, 1973.
Kattamis C., Cheng G. et al.: Molecular characterization of beta-thalassemia in 174 Greek
patients with thalassemia major. Br. J. Haematol., 74 (3), 342-346, 1990.
Cao A., Gossens M.: Beta thalassemia mutations in mediterranean populations. Br. J.
Haematol., 71 (3), 309-312, 1989.
Chernoff A.I.: The distribution of the thalassemia gene: a historical review. Blood XIV,
899-912, 1959.
Sannie G.: Répartition géographique de la thelassémie; son interprétation. Tesi,
Paris, 1964.
Silvestroni E., Bianco I.: The distribution of microcythaemias (or thalassemias) in Italy.
In: "Abnormal Haemoglobins", Blackwell, Oxford, 242-259, 1959.
Gatto I.: Sulla ereditarietà della malattia di Cooley. Minerva Medica XXXIX, 194-198,
1948.
Gatto I.: Origine della thalassemia. Pensiero Scientifico III, 413-419, 1960.
Fraser G.R. et al.: Glucose-6-phosphate dehydrogenase deficiency, abnormal haemoglobins
and thalassemia in Yugoslavia. J. Med. Gen. III, 35-41, 1966.
Orsini A., Badelli L.: Nosologie, étiologie et pathologie des thalassémies. In: Rapports
au XV Congrès des Pédiatres de Langue francaise, Marseille, 1-130, 1955.
Silvestroni E., Bianco I., Alfieri N.: Sulle origini della microcitemia in Italia e nelle
altre regioni della terra. Medicina II, 187-216, 1952.
Thor Peng Thong.: La thalassémie au Cambodge, Paris, Ecole Francaise d'Extrême Orient,
1958.
Brumpt L.C.: Les splénomégalies chroniques africaines. Rev. Sci. Méd. CLXII, 78-87,
1964.
Tönz O. et al.: New mutation in a swiss girl leading tot clinical and biochemical beta
thalassemia minor. Humangenetik XXX, 321-327, 1973.
Silvestroni E., Bianco I., Montalenti G. et al.: Frequency of microcythemia in some
italian districts. Nature, 165, 682-683, 1950.
Schilirò G., Li Volti S. et al.: Increase with age in the prevalence of beta talassemia
trait among sicilians. Ann. N. Y. Acad. sci., 612, 504, 1990.
Masala B.: Basi biochimiche e molecolari delle talassemie. Piccin (ed), 1987.
Fraser G.L. et al.: Thalassemia, abnormal haemoglobins and glucose-6-phosphate
dehydrogenase deficiency in the Arta area of Greece. Ann. Acad. sci. CXIX, 415-435, 1964.
Choremis C. et al.: Three inherited red-cell abnormalities in a district of Greece:
thalassemia, sickling and glucose-6-phosphate dehydrogenase deficiency. Lancet I, 907-909,
1963.
Talassemia e Malaria
Haldane J.B.S.: Disease and evolution. Ric. Sci. (Suppl.) 19, 3, 1949.
Luzzatto L., Nwachuker-Jarrett E.S. and Reddy S.: Increased sickling of parasitized
erythrocytes as mechanism of resistance against malaria in the sickle-cell trait. Lancet i
276, 1970.
Siniscalco M., Bernini L., Filippi G. et al.: Population genetics of haemoglobin variants,
thalassemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to
the Malaria hypothesis. Bull. WHO 34, 379, 1966.
Modiano G., Morpurgo G. et al.: Protection against Malaria Morbidity: Near-Fixation of the
alfa thalassemia gene in a nepalese Population. Am. J. Hum. Genet. 48, 390, 1991.
Nagel R. and Roth E.: Malaria and red cell genetics defects. Blood 74, 213, 1983.
Allison A.C.: Protection afforded by sickle-cell trait against sub-tertian malarial
infection. Brit. Med. J. 1, 290-294, 1954.
Lehman H.: The maintenance of the hemoglobinopathies at high frequency. In: "Abnormal
haemoglobins", Blackwell, Oxford, 307-321, 1959.
Stamatoyannopoulos G. and Fessas P.: Thalassemia, glucose-6-phosphate dehydrogenase
deficiency, sickling and malarial endemicity in Greece. Brit. Med. J. I, 875-879, 1964.
Brown P.J.: New considerations on the distribution of malaria, thalassemia and
glucose-6-phosphate dehydrogenase deficiency in Sardinia. Hum. Biol., 53, 367-382, 1981.
Carcassi U.R., Ceppellini R., Pitzu F.: Frequenza della talassemia in quattro popolazioni
sarde e suoi rapporti con la distribuzione dei gruppi sanguigni e della malaria. Boll.
Ist. Sieroterap. Milanese, 36, 207-218, 1957.
Williams T.N., Maitland K., Bennett S., Ganczakowski M., Peto T.E.A., Newbold C.I., Bowden
D.K., Weatherall D.J., Clegg J.B.: High incidence of malaria in alfa thalassemic children.
Nature, 383, 522-525, 1996.
Flint J., Hill A.V.S., Bowed D.K., Oppenheimer S.J., Sill P.R., Serjeantson S.W.,
Banakoiri J., Bhatia K., Alpers M.P., Boyce A.J., Weatherall D.J., Clegg J.B.: High
frequencies of alfa thalassemia are the result of a natural selection by malaria. Nature,
321, 744-750, 1986.
Siniscalco M., Bernini L., Latte B. et al.: Favism and thalassaemia in Sardinia and their
relationship to malaria. Nature, 190, 1179-1180.
Talassemia e Paleopatologia
Jarcho S.: Human paleopathology. Yale Univ. Press, New Haven and London, 16-17, 1966.
HrdlcKa A.: Anthropological field work in Peru in 1913. With
notes on the pathology of ancient Peruvians. Smithsonian Inst. Misc Coll. LXI, 1-69, 1914.
Williams H.U.: Human paleophatology, with some original observation on symmetrical
osteoporosis of the skull. Arch. Path. Labor. Med. VII, 839-902, 1929.
Feingold B.F., Case J.T.: Roentgenologic skull change in anemias of childhood; a few notes
on similar findings among skulls of Peruvian Indians. Am. J. Roentgen XXIX, 194-202, 1933.
Moore S.: Bone, changes in sinckle cell anemia, with note on similar changes in skulls of
ancient Mayd Indians. J. Missouri Med. Ass. XXVI, 561-564, 1929.
Hooton E.A.: The indians of Pecos pueblo; a study of their skeletal remains, Yale Univ.
Press, New Haven, 306-330, 1930.
Pales L.: Paléopathologic et pathologie comparative. Paris, Masson, 250, 1930.
Angel J.L.: Skeletal changes in ancient Greece. Amer. J. Physical. Anthrop. IV, 69-97,
1946.
Fraser R.: The problem of osteoporosis; critical review. J. Bone Joint Surg., 485-495,
1962.
Mueller H.: Het voorkomen van de zgn. osteoporosis symmetrica cranii op Java en haar
verband met de rhachitis, Geneesk. Tijdsch. Neder. Indie LXXIV, 1804-1093, 1934.
Angel J.L.: Porotic hyperostosis, anemias, malarias and marshes in the prehistoric eastern
mediterranean. Science CLIII, 760-763, 1966.
Carlson D.S., Armelagos G.J., Van Gerven D.: Factors influencing the etiology of cribra
orbitalia in prehistoric Nubia. J. Hum. Evol. III, 405-410, 1974.
Caffey J.P.: Cooley's anemia: a review of the roentgenographic findings in the skeleton.
Amer. J. Roentg. LXXVIII, 381-391, 1957.
Moseley J.E.: Bone changes in hematologic disorders (roentgen aspects), Grune and Stratton
(eds), New York and London, 1963.
Bismuth V., Benacerraf R.: Etude radiologique des manifestations osseuses des anémies
hémolytiques héréditaires. Ann. Radiol. Sem. Hop. X, 559-574, 1967.
Belloni F., Fornara P.: Istogenesi del cranio a spazzola nel morbo di Cooley. Minerva
Pediatrica VII, 1638-1645, 1955.
Brandlard-Lucot R.: Contribution r l'étude des lésions osseuses de la thalassémie. Tesi
di laurea, Paris, 1971.
Tardivel M.F.: Contribution r l'ctude du diagnostic du trait thalassémique par la
radiographie de crane. Thcse, Paris, 1971.
Moseley J.B.: The paleopathological riddle of symmetrical osteoporosis. Amer. J. Roentg.
XCV, 135-142, 1965.
Angel J.L.: Porotic hyperostosis or osteoporosis symmetrica. In: "Diseases in
Antiquity", D. Brothwell and A.T. Sandison (eds), Springfield, 378-389, 1967.
Moseley J.B.: Radiographic studies in hematologic bone diseases: implications for
paleopathology. In: "Human Paleopathology", S. Jarcho (ed), New Haden and
London, 121-130, 1966.
Zaino E.C.: Paleontologic thalassemia. Ann. N.Y. Acad. sci. XIX, 402-412, 1964.
Pays J.F.: La thalassémie eurasiatique. Essai d'anthropopathologie, Paris e Toulouse,
centre d'Hémotypologie, 136-140, 1971.
Brumpt L.C., Pays J.F.: Signification anthropologique de la thalassémie eurasiatique.
Maroc. Méd. LII, 499-506, 1972. |