{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:53Z","timestamp":1760737253382,"version":"build-2065373602"},"reference-count":25,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1967,6]]},"DOI":"10.1136\/jmg.4.2.109","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:49:07Z","timestamp":1226328547000},"page":"109-111","source":"Crossref","is-referenced-by-count":9,"title":["Combination of spherocytosis and a variant of beta thalassaemia ('isolated raised Hb A2')."],"prefix":"10.1136","volume":"4","author":[{"given":"T A","family":"Cunningham","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Vella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1967,6,1]]},"reference":[{"key":"ref_1","article-title":"ence of the genes for spherocytosis and the beta thalassaemia variant in our patient in any way interfered with the expression or clinical manifestation of either. A similar lack of interaction can be inferred from study of the published reports on patients with the combination of hereditary elliptocytosis and classical beta thalassaemia","volume-title":"Perillie and Chernoff","author":"Brumpt, Delabarre, and De Traverse, 1960; De Vries, De Jong, and Frenkel","year":"1959","unstructured":"ence of the genes for spherocytosis and the beta thalassaemia variant in our patient in any way interfered with the expression or clinical manifestation of either. A similar lack of interaction can be inferred from study of the published reports on patients with the combination of hereditary elliptocytosis and classical beta thalassaemia (Brumpt, Delabarre, and De Traverse, 1960; De Vries, De Jong, and Frenkel, 1959; Aksoy, 1963; Perillie and Chernoff, 1965)."},{"key":"ref_2","article-title":"Absence of the haematological stigmata of a postulated thalassaemia gene in the presence of spherocytosis was noted by Cohen","year":"1959","unstructured":"Absence of the haematological stigmata of a postulated thalassaemia gene in the presence of spherocytosis was noted by Cohen et al. (1959) in their patient. This they attributed to a suppression or masking of the thalassaemia effect, by the spherocytosis gene. However, the thalassaemia gene they postulated did not produce an increase in haemoglobin A2 level. In our patient this explanation is not tenable since his brother also had a raised haemoglobin A2 level in the absence of any noticeable morphological abnormalities. The thalassaemia gene in our family, therefore, is of the kind that is expressed as an isolated raised haemoglobin A2 level.","journal-title":"et al; in their patient. This they attributed to a suppression or masking of the thalassaemia effect, by the spherocytosis gene. However, the thalassaemia gene they postulated did not produce an increase in haemoglobin A2 level. In our patient this explanation is not tenable since his brother also had a raised haemoglobin A2 level in the absence of any noticeable morphological abnormalities. The thalassaemia gene in our family, therefore, is of the kind that is expressed as an isolated raised haemoglobin A2 level"},{"key":"ref_3","unstructured":"No explanation can be offered for the finding of a prolonged clotting time and incomplete clot retraction in our patient. There was no history of a haemorrhagic diathesis in the patient or his family. The situation is different, therefore, from that reported by Chatterjea (1956) in a Hindu family in which both spherocytosis and 'pseudo haemophilia' were present and occurred together in one member.","article-title":"No explanation can be offered for the finding of a prolonged clotting time and incomplete clot retraction in our patient. There was no history of a haemorrhagic diathesis in the patient or his family. The situation is different, therefore, from that reported by Chatterjea (1956) in a Hindu family in which both spherocytosis and 'pseudo haemophilia' were present and occurred together in one member"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1159\/000208126","article-title":"The combination of hereditary elliptocytosis with heterozygous beta thalassaemia","volume":"30","author":"Aksoy, M.","year":"1963","unstructured":"Aksoy, M. (1963). The combination of hereditary elliptocytosis with heterozygous beta thalassaemia. Acta haemat. (Basel), 30, 215.","journal-title":"Acta haemat. (Basel)"},{"key":"ref_5","first-page":"53","article-title":"Thalassemia: A Survey of Some Aspects","author":"Bannerman, R.M.","year":"1961","unstructured":"Bannerman, R. M. (1961). Thalassemia: A Survey of Some Aspects, p. 53. Grune and Stratton, New York."},{"issue":"1","key":"ref_6","first-page":"451","article-title":"Double heterozygotie entre thalassemie","volume":"2","author":"Brumpt, L.C.; Delabarre, L.C.; De Traverse, P.M.","year":"1960","unstructured":"Brumpt, L. C., Delabarre, L. C., and De Traverse, P. M. (1960). Double heterozygotie entre thalassemie et elliptocytose. In Proc VIIth Congr. int. Soc. Hemat., Vol. 2, Pt. 1, p. 451. Pensiero Scientifico, Rome.","journal-title":"et elliptocytose. In Proc VIIth Congr; Soc. Hemat; Pensiero Scientifico, Rome."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2141.1961.tb00314.x","article-title":"Thalassaemia in Britain","volume":"7","author":"Callender, S.T.; Mallett, B.J.; Lehmann, H.","year":"1961","unstructured":"Callender, S. T., Mallett, B. J., and Lehmann, H. (1961). Thalassaemia in Britain. Brit. J. Haemat., 7, 1.","journal-title":"Brit. J. Haemat"},{"key":"ref_8","first-page":"1635","article-title":"Il tracciato elettroforetico dell' emoglobina per una migliore discriminazione delle talassemie","volume":"42","author":"Carcassi, U.; Ceppellini, R.; Siniscalco, M.","year":"1957","unstructured":"Carcassi, U., Ceppellini, R., and Siniscalco, M. (1957). Il tracciato elettroforetico dell' emoglobina per una migliore discriminazione delle talassemie. Haematologica, 42, 1635.","journal-title":"Haematologica"},{"key":"ref_9","first-page":"90","article-title":"Hereditary spherocytosis with 'pseudohaemophilia'","volume":"4","author":"Chatterjea, J.B.","year":"1956","unstructured":"Chatterjea, J. B. (1956). Hereditary spherocytosis with 'pseudohaemophilia'. Bull. Calcutta Sch. trop. Med., 4, 90.","journal-title":"Bull. Calcutta Sch. trop. Med"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1182\/blood.V14.7.816.816","article-title":"Multiple inherited erythrocyte abnormalities in an American negro family; Hereditary spherocytosis, sickling and thalassemia","volume":"14","author":"Cohen, F.; Zuelzer, W.W.; Neel, J.V.; Robinson, A.R.","year":"1959","unstructured":"Cohen, F., Zuelzer, W. W., Neel, J. V., and Robinson, A. R. (1959). Multiple inherited erythrocyte abnormalities in an American negro family; Hereditary spherocytosis, sickling and thalassemia. Blood, 14, 816.","journal-title":"Blood"},{"key":"ref_11","first-page":"260","article-title":"Sickle cell-spherocytosis associated with hemolytic anemia","volume":"11","author":"De Torregrosa, M.V.; Ortiz, A.; Vargas, D.","year":"1956","unstructured":"De Torregrosa, M. V., Ortiz, A., and Vargas, D. (1956). Sickle cell-spherocytosis associated with hemolytic anemia. ibid., 11, 260.","journal-title":"ibid"},{"key":"ref_12","first-page":"1078","article-title":"Anemie elliptocytaire hemolytique","volume":"89","author":"De Vries, S.I.; De Jong, J.; Frenkel, M.","year":"1959","unstructured":"De Vries, S. I., De Jong, J., and Frenkel, M. (1959). Anemie elliptocytaire hemolytique. Schweiz. med. Wschr., 89, 1078.","journal-title":"Schweiz. med. Wschr"},{"key":"ref_13","first-page":"71","article-title":"Forms of thalassaemia","volume-title":"Abnormal Haemoglobins in","author":"Fessas, P.","year":"1965","unstructured":"Fessas, P. (1965). Forms of thalassaemia. In Abnormal Haemoglobins in Africa, ed. J. H. P. Jonxis, p. 71. Blackwell, Oxford."},{"key":"ref_14","first-page":"89","article-title":"Les expressions du gene thalassemique en Grece","author":"Gouttas, A.","year":"1962","unstructured":"Gouttas, A. (1962). Les expressions du gene thalassemique en Grece. In Haemoglobin-Colloquium, ed. H. Lehmann and K. Betke, p. 89. Thieme, Stuttgart."},{"key":"ref_15","first-page":"252","author":"Harris, J.W.","year":"1963","unstructured":"Harris, J. W. (1963). The Red Cell, p. 252. Harvard University Press, Cambridge, Massachusetts.","journal-title":"The Red Cell"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0022-3476(59)80013-5","article-title":"Haemoglobin S-hereditary spherocytosis","volume":"54","author":"Jones, B.; Klingberg, W.G.","year":"1959","unstructured":"Jones, B., and Klingberg, W. G. (1959). Haemoglobin S-hereditary spherocytosis. J. Pediat., 54, 375.","journal-title":"J. Pediat"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1182\/blood.V14.6.688.688","article-title":"Hereditary spherocytosis-sicklemia in the negro","volume":"14","author":"Martin, W.W.; Kough, R.H.; Branche, G.C.","year":"1959","unstructured":"Martin, W. W., Kough, R. H., and Branche, G. C. (1959). Hereditary spherocytosis-sicklemia in the negro. Blood, 14, 688.","journal-title":"Blood"},{"key":"ref_18","first-page":"494","article-title":"Heterozygous betathalassemia in association with hereditary elliptocytosis","volume":"25","author":"Perillie, P.E.; Chernoff, A.I.","year":"1965","unstructured":"Perillie, P. E., and Chernoff, A. I. (1965). Heterozygous betathalassemia in association with hereditary elliptocytosis. ibid., 25, 494.","journal-title":"ibid"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1159\/000209590","article-title":"Two new thalassaemic syndromes. (a) Homozygous alpha-thalassaemia, (b) Cooley-like disease due to homozygous elevated Hb A2 without microcythaemia","volume":"32","author":"Quattrin, N.; Dini, E.; Ventruto, V.","year":"1964","unstructured":"Quattrin, N., Dini, E., and Ventruto, V. (1964). Two new thalassaemic syndromes. (a) Homozygous alpha-thalassaemia, (b) Cooley-like disease due to homozygous elevated Hb A2 without microcythaemia. Acta haemat. (Basel), 32, 221.","journal-title":"Acta haemat. (Basel)"},{"key":"ref_20","first-page":"1868","article-title":"Sull' esistenza nella popolazione italiana di soggetti non microcitemici portatori di un' elevata quota di emoglobina adulta lenta (Hb A2) e sui loro rapporti con i malati di anemia microcitica","volume":"64","author":"Silvestroni, E.; Bianco, I.","year":"1957","unstructured":"Silvestroni, E., and Bianco, I. (1957). Sull' esistenza nella popolazione italiana di soggetti non microcitemici portatori di un' elevata quota di emoglobina adulta lenta (Hb A2) e sui loro rapporti con i malati di anemia microcitica. Policlinico, Sez. prat., 64, 1868.","journal-title":"Policlinico, Sez. prat"},{"key":"ref_21","first-page":"41","article-title":"Pluralita delle microcitemie (o thalassemie)","volume":"73","author":"and","year":"1966","unstructured":"-, and - (1966). Pluralita delle microcitemie (o thalassemie). ibid., 73, 41.","journal-title":"ibid"},{"key":"ref_22","first-page":"289","article-title":"Clinical features of the genetic variants of sickle cell disease","volume":"94","author":"Smith, E.W.; Conley, C.L.","year":"1954","unstructured":"Smith, E. W., and Conley, C. L. (1954). Clinical features of the genetic variants of sickle cell disease. Bull. Johns Hopk. Hosp., 94, 289.","journal-title":"Bull. Johns Hopk. Hosp"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1159\/000209591","article-title":"Three inherited intraerthrocytic defects: Hereditary spherocytosis, Hb S and Hb C","volume":"32","author":"Thompson, R.B.; Robertson, M.G.","year":"1964","unstructured":"Thompson, R. B., and Robertson, M. G. (1964). Three inherited intraerthrocytic defects: Hereditary spherocytosis, Hb S and Hb C. Acta haemat. (Basel), 32, 233.","journal-title":"Acta haemat. (Basel)"},{"key":"ref_24","first-page":"69","article-title":"Thalassaemia Syndromes","author":"Weatherall, D.J.","year":"1965","unstructured":"Weatherall, D. J. (1965). Thalassaemia Syndromes, p. 69. Blackwell, Oxford."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0022-3476(63)80303-0","article-title":"Hereditary spherocytosis associated with sickle cell trait and cholelithiasis","volume":"63","author":"Whitaker, J.A.; Windmiller, J.; Vietti, J.; Sartain, P.","year":"1963","unstructured":"Whitaker, J. A., Windmiller, J., Vietti, J., and Sartain, P. (1963). Hereditary spherocytosis associated with sickle cell trait and cholelithiasis. J. Pediat., 63, 65.","journal-title":"J. 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