Hemoglobin H Disease Resulting From The Association Of The - α3.7 Rightward Deletion And The (αα)mm Deletion In A Brazilian Patient

A patient with Hb H disease resulting from the association of the - α3.7 rightward deletion with the rare (αα)MM deletion, which removes the entire α-major regulatory element (MRE), is reported. This is the first description of an α-thalassemic mutation resulting from deletion of the locus-controlling sequences in the South-American population.693179181Higgs, D.R., Vickers, M.A., Wikie, A.O.M., Petrorius, I.-M., Jarman, A.P., Weatherall, D.J., A review of the molecular genetics of the human α-globin gene cluster (1989) Blood, 73, pp. 1081-1104Higgs, D.R., The Haemoglobinopathies (1993) Baillière's Clin Haematol, 6, pp. 117-150Dacie, J.V., Lewis, S.M., (1995) Practical Haematology 8th Edn., , Edinburgh: Churchill LivingstoneBowden, D.K., Vickers, M.A., Higgs, D.R., A PCR-based strategy to detect the common severe determinants of α-thalassaemia (1992) Br J Haematol, 81, pp. 104-108Dodé, C., Krishnamoorthy, R., Lamb, J., Rochette, J., Rapid analysis of α3.7 thalassaemia and ααα triplication by enzymatic amplification analysis (1993) Br J Haematol, 82, pp. 105-111Traeger-Synodinos, J., Kanavakis, E., Tzetis, M., Kattamis, A., Kattamis, C., Characterization of nondeletional α thalassemia mutations in the Greek population (1993) Am J Hematol, 44, pp. 162-167Makonkawkeyoon, L., Sanguansermsri, T., Asato, T., Nakashima, Y., Takei, H., Rapid detection of chain termination mutation in the α2 globin gene (1993) Blood, 82, pp. 3503-3504Hall, G.E., Thein, S.L., Newland, C.A., A base substitution (T → C) in codon 29 of α2-globin gene causes α-thalassaemia (1983) Br J Haematol, 85, pp. 546-552Dodé, C., Rochette, J., Krishanamoorthy, R., Locus assignment of human α-mutation by selective amplification and direct sequencing (1990) Br J Haematol, 76, pp. 275-281Romao, L., Osório-Almeida, L., Higgs, D.R., Lavinha, J., Liebhaber, S.A., α-Thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural genes (1991) Blood, 78, pp. 1589-1595Bernet, A., Sabatier, S., Picketts, D.J., Targeted inactivation of the Major Positive Regulatory Element (HS-40) of the human α-globin locus (1995) Blood, 86, pp. 1202-1211Higgs, D.R., (2001) Molecular Mechanisms of Alpha Thalassemia. Disorders of Hemoglobin - Genetics, Pathophysiology and Clinical Management, Chap. 17, pp. 405-430. , (Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds). New York: Cambridge University Pres