Piel FB, Weatherall DJ (2014) The α-Thalassemias. N Engl J Med 371:1908–1916
Taher AT, Musallam KM, Cappellini MD (2021) β-Thalassemias. N Engl J Med 384(8):727–743
Kalle Kwaifa I, Lai MI, Md Noor S (2020) Non-deletional alpha thalassaemia: a review. Orphanet J Rare Dis 29(1):166
Higgs DR (2013) The molecular basis of α-thalassemia. Cold Spring HarbPerspect Med 3(1):a011718
Grosso M, Sessa R, Puzone S, Storino MR, Izzo P (2012) Molecular basis of Thalassemia. In: Silverberg DS (ed) Anemia. InTechOpen, London, pp 346–349. doi: https://doi.org/10.5772/31362.
Harteveld CL, Achour A, Arkesteijn SJG, TerHuurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT (2022) The hemoglobinopathies, molecular disease mechanisms and diagnostics. Int J Lab Hematol 44:28–36
Article PubMed PubMed Central Google Scholar
Bunn HF, Forget BG (1986) Hemoglobin: Molecular, genetic and clinical aspects, 2nd edn. WB Saunders, Philadelphia
Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux S (2008) Nathan and Oski’s hematology of infancy and childhood, 7th edn. Saunders Elsevier, Philadelphia
Hunt DM, Higgs DR, Winichagoon P, Clegg JB, Weatherall DJ (1982) Haemoglobin constant spring has an unstable a chain messenger RNA. Br J Haematol 51:405–413
Article PubMed CAS Google Scholar
De Jong WW, Meera Khan P, Bernini LF (1975) Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet 27(1):81–90
PubMed PubMed Central Google Scholar
Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G, Wajcman H, Hardison RC, Patrinos GP (2014) Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 42:D1063–D1069. https://doi.org/10.1093/nar/gkt911
Article PubMed CAS Google Scholar
Brennan SO, Ryken S, Chan T (2010) HbKoya Dora [alpha142, Term–>Ser (TAA > TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia. Hemoglobin 34(4):402–405
Article PubMed CAS Google Scholar
Farashi S, Najmabadi H (2015) Diagnostic pitfalls of less well recognized HbH disease. Blood Cells Mol Dis 55(4):387–395
Article PubMed CAS Google Scholar
Nadkarni AH, Nair SB, Italia KY, Warang P, Dalvi M, Ghosh K, Colah RB (2010) Molecular diversity of hemoglobin H disease in India. Am J Clin Pathol 133(3):491–494
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