Camperdown Hemoglobin Associated With β° Thalassemia In A Brazilian Child

We report the coexistence of Hb Camperdown [β 104 (G6) Arg → Ser] and β°-thalassemia [β39 (Gln → stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's β-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of β°-thalassemia with Hb Camperdown. Copyright by the Brazilian Society of Genetics.283394396Araújo, A.S., Silva, W.A., Leao, S.A., Bandeira, F.C., Petrou, M., Modell, B., Zago, M.A., A different molecular pattern of β-thalassemia mutations in Northeast of Brazil (2003) Hemoglobin, 27, pp. 211-217Amone, A., X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhemoglobin (1972) Nature, 237, pp. 146-149Bertuzzo, C.S., Sonati, M.F., Costa, F.F., Hematological phenotype and the type of β thalassemia mutation in Brazil (1997) Braz J Genet, 20, pp. 319-321Bianco, I., Graziani, B., Carboni, C., Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial hematological and biosynthetic studies (1977) Hum Hered, 27, pp. 257-272Blouquit, Y., Lacombe, C., Arous, N., Le Qurrec, A., Branconnier, F., Bonhomme, J., Soummer, A.M., Galacteros, F., Seven new cases of hemoglobin Camperdown alpha 2 beta 2 104 (G6) ARG → SER found in Malta, Sicily and Tunisia (1984) Hemoglobin, 8, pp. 613-619Chang, J.C., Kan, Y.W., β°-thalassemia, a nonsense mutation in man (1979) Proc Natl Acad Sci USA, 76, pp. 2886-2889Clarke, G.M., Higgins, T.N., Laboratory investigation of hemoglobinopathies and thalassemias: Review and update (2000) Clin Chem, 46, pp. 1284-1290Fonseca, S.F., Kerbauy, J., Escrivçao, C., Figueiredo, M.S., Cançado, R., Arruda, V.R., Saad, S.T.O., Costa, F.F., Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil (1998) Hemoglobin, 22, pp. 197-207Grignoli, C.R.E., Carvalho, M.H., Kimura, E.M., Sonati, M.F., Arruda, V.R., Saad, S.T.O., Costa, F.F., β°-thalassemia resulting from a novel mutation: β66/u → stop codon (2000) Eur J Haematol, 64, pp. 137-138Kimura, E.M., Grignoli, C.R.E., Pinheiro, V.R.P., Costa, F.F., Sonati, M.F., Thalassemia intermedia as a result of heterozygosis for β°-thallassemia and αααanti3.7/αα genotype in a Brazilian patient (2003) Braz J Med Biol Res, 36, pp. 699-701Kister, J., Barbadjian, J., Blouquit, Y., Bohn, B., Galacteros, F., Poyart, C., Inhibition of oxygen-linked anion binding in Hb Camperdown [α2β2 104 (G6) ARG → SER] (1989) Hemoglobin, 13, pp. 567-578Miranda, S.R.P., Kimura, E.M., Teixeira, R.C., Bertuzzo, C.S., Ramalho, A.A., Saad, S.T.O., Costa, F.F., Hb Camperdown [α2β2 104 (G6) ARG → SER] identified by DNA analysis in a Brazilian family (1996) Hemoglobin, 20, pp. 147-153Old, J.M., Screening arid genetic diagnosis of haemoglobin disorders (2003) Blood Rev, 17, pp. 43-53Olivieri, N.F., The β-thalassemias (1999) N Engl J Med, 341, pp. 99-109Thein, S.L., Genetic insights into the clinical diversity of beta thalassaemia (2004) Br J Haematol, 124, pp. 264-274Weatherall, D.J., Clegg, J.B., Inherited haemoglobin disorders: An increasing global health problem (2001) Bull World Health Organ, 79, pp. 704-712Wilkinson, T., Chua, C.G., Carrell, R.W., Robin, H., Exner, T., Lee, K.M., Kronenberg, H., Haemoglobin Camperdown β 104(G6) Arginine leads to serine (1975) Biochim Biophys Acta, 393, pp. 195-200Zago, M.A., Costa, F.F., Hereditary hemoglobin disorders in Brazil (1985) Trans R Soc Trop Med Hyg, 79, pp. 385-38