• Anagnou, N.P., Perez-Stable, C., Gelinas, R., Costantini, F., Liapaki, K., Constantopoulou, M., Kosteas, T., Moschonas, N.K. & Stamatoyannopoulos, G. (1995) Sequences located 3′ to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal A gamma-globin gene in transgenic mice. Journal of Biological Chemistry, 270, 1025610263.
  • Bank, A. (2005) Understanding globin regulation in beta-thalassemia: it’s as simple as alpha, beta, gamma, delta. Journal of Clinical Investigation, 115, 14701473.
  • Bank, A., O’Neill, D., Lopez, R., Pulte, D., Ward, M., Mantha, S. & Richardson, C. (2005) Role of intergenic human gamma-delta-globin sequences in human hemoglobin switching and reactivation of fetal hemoglobin in adult erythroid cells. Annals of the New York Academy of Sciences, 1054, 4854.
  • Calzolari, R., McMorrow, T., Yannoutsos, N., Langeveld, A. & Grosveld, F. (1999) Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. EMBO Journal, 18, 949958.
  • Chakalova, L., Osborne, C.S., Dai, Y.F., Goyenechea, B., Metaxotou-Mavromati, A., Kattamis, A., Kattamis, C. & Fraser, P. (2005) The Corfu deltabeta thalassemia deletion disrupts gamma-globin gene silencing and reveals post-transcriptional regulation of HbF expression. Blood, 105, 21542160.
  • Di Marzo, R., Acuto, S., Calzolari, R. & Maggio, A. (2005) Allele-specific transcription of fetal genes in primary erythroid cell cultures from Lepore and deltabeta degrees thalassemia patients. Experimental Hematology, 33, 13631370.
  • Donovan-Peluso, M., Acuto, S., Swanson, M., Dobkin, C. & Bank, A. (1987) Expression of human gamma-globin genes in human erythroleukemia (K562) cells. Journal of Biological Chemistry, 262, 1705117057.
  • Donovan-Peluso, M., Acuto, S., O’Neill, D., Hom, A., Maggio, A. & Bank, A. (1991) The beta globin 3′ enhancer element confers regulated expression on the human gamma globin gene in the human embryonic-fetal erythroleukemia cell line K562. Blood, 77, 855860.
  • Forget, B.G. (1998) Molecular basis of hereditary persistence of fetal hemoglobin. Annals of the New York Academy of Sciences, 850, 3844.
  • Garner, C., Tatu, T., Reittie, J.E., Littlewood, T., Darley, J., Cervino, S., Farrall, M., Kelly, P., Spector, T.D. & Thein, S.L. (2000) Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood, 95, 342346.
  • Gilman, J.G. & Huisman, T.H. (1985) DNA sequence variation associated with elevated fetal G gamma globin production. Blood, 66, 783787.
  • Hanscombe, O., Whyatt, D., Fraser, P., Yannoutsos, N., Greaves, D., Dillon, N. & Grosveld, F. (1991) Importance of globin gene order for correct developmental expression. Genes and Development, 5, 13871394.
  • Katsantoni, E.Z., Langeveld, A., Wai, A.W., Drabek, D., Grosveld, F., Anagnou, N.P. & Strouboulis, J. (2003) Persistent gamma-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. Blood, 102, 34123419.
  • Lapoumeroulie, C., Castiglia, L., Ruberto, C., Fichera, M., Amata, S., Labie, D. & Ragusa, A. (1999) Genetic variations in human fetal globin gene microsatellites and their functional relevance. Human Genetics, 104, 307314.
  • Lee, S.T., Kim, M.S., Choi, D.Y., Kim, S.K. & Ki, C.S. (2006) Incidence of variant hemoglobin (Hb) and increased fetal Hb concentrations and their effect on Hb A1c measurement in a Korean population. Clinical Chemistry, 52, 14451446.
  • Manca, L. & Masala, B. (2008) Disorders of the synthesis of human fetal hemoglobin. IUBMB Life, 60, 94111.
  • Peterson, K.R. & Stamatoyannopoulos, G. (1993) Role of gene order in developmental control of human gamma- and beta-globin gene expression. Molecular and Cellular Biology, 13, 48364843.
  • Shimizu, K., Harano, T., Harano, K., Miwa, S., Amenomori, Y., Ohba, Y., Kutlar, F. & Huisman, T.H. (1986) Abnormal arrangements in the alpha- and gamma-globin gene clusters in a relatively large group of Japanese newborns. American Journal of Human Genetics, 38, 4558.
  • Slightom, J.L., Blechl, A.E. & Smithies, O. (1980) Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell, 21, 627638.
  • Sukumaran, P.K., Nakatsuji, T., Gardiner, M.B., Reese, A.L., Gilman, J.G. & Huisman, T.H. (1983) Gamma thalassemia resulting from the deletion of a gamma-globin gene. Nucleic Acids Research, 11, 46354643.
  • Thein, S.L. (2005) Genetic modifiers of beta-thalassemia. Haematologica, 90, 649660.
  • Zertal-Zidani, S., Ducrocq, R., Sahbatou, M., Satta, D. & Krishnamoorthy, R. (2002) Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene. European Journal of Human Genetics, 10, 320326.