References
- Waye JS, Eng B. Diagnostic testing for α-globin gene disorders in a heterogeneous North American population. Int J Lab Hematol. 2013;35(3):306–313
- Sellner LN, Taylor GR. MLPA and MAPH: New techniques for detection of gene deletions. Hum Mutat. 2004;23(5):413–419
- Harteveld CL, Voskamp A, Phylipsen M, et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931
- Cui J, Azimi M, Baysdorfer C, et al. Application of multiplex amplification-dependent probe amplification to screen for β-globin cluster deletions: Detection of two novel deletions in a multiethnic population. Hemoglobin. 2013;37(3):241–256
- Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu/hbvar/menu.html)
- Thein SL, Wood WG. The molecular basis of β thalassemia, δβ thalassemia, and hereditary persistence of fetal hemoglobin. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, Eds. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 2nd ed. New York, NY: Cambridge University Press. 2009:321–356
- Palena A, Blau A, Stamatoyannopoulos G, Anagnou NP. Eastern European (δβ)0 thalassemia: Molecular characterization of a novel 9.1-kb deletion resulting in high levels of fetal hemoglobin in the adult. Blood. 1994;83(12):3738–3745
- Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: New insights emerging from genomics and clinical implications. Hum Mol Genet. 2009;18(R2):R216–R223
- Galarneau G, Palmer CD, Sankaran VG, et al. Fine mapping of three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010;42(12):1049–1051
- Elderdery AY, Mohamed BA, Karsani ME, et al. Hemoglobinopathies in the Sudan. Hemoglobin. 2008;32(3):323–326
- Elderdery AY, Mohamed BA, Cooper AJ, et al. Tribal distribution of haemoglobinopathies in a Sudanese patient population. J Med Lab Diagn. 2011;2(4):31–37
- Tasha M, Luo H-Y, Davis L, et al. Neonatal hemolytic anemia and (δβ)0-thalassemia caused by novel deletions involving the β-globin gene cluster. Blood. 2013;122(21):3452
- Sankaran VG, Xu J, Byron R, et al. A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011;365(9):807–814
- Feingold EA, Forget BG. The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the β-globin gene cluster. Blood. 1989;74(6):2178–2186
- Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E. A deletion/inversion rearrangement of the β-globin gene cluster in a Turkish family with δβ0-thalassemia intermedia. Blood. 1992;79(9):2455–2459