References
- Higgs DR, Vickers MA, Wilkie AOM. A review of the molecular genetics of the human α-globin gene cluster. Blood 1989;73(5):1081–1104.
- Harteveld C, Higgs DR. α-thalassaemia. Orphanet J Rare Dis. 2010;5:13.
- Higgs DR. The molecular basis of α-thalassemia. Cold Spring Harb Perspect Med. 2013;3(1):a011718.
- Farashi S, Harteveld C. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.
- Mohammed AM, Al-Hilli F, Nadkarni KV, et al. Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in hospital births in Bahrain. Ann Saudi Med. 1992;12(6):536–539.
- Iron deficiency anemia, assesment, prevention and control: a guide for programme managers. Geneva (Switzerland): World Health Organisation, 2001. [WHO reference number: WHO/NHD/01.3].
- Jassim N, Al-Arrayed S, Gerard N, et al. Molecular basis of α-thalassemia in Bahrain. Bahrain Med Bull 2001;23(1):3–7.
- Thein SL, Wallace RB, Pressley L, et al. The polyadenylation site mutation in the α-globin gene cluster. Blood 1988;71(2):313–319.
- Pressley L, Higgs DR, Clegg JB, et al. A new genetic basis for Hemoglobin-H disease. N Engl J Med. 1980;303(24):1383–1388.
- Whitelaw E, Proudfoot N. α-Thalassemia caused by a poly(A) site mutation reveals that transcriptional termination is linked to 3′ end processing in the human α2 globin gene. EMBO J. 1986;5(11):2915–2922.
- Proudfoot NJ. Transcriptional interference and termination between duplicated α-globin gene constructs suggests a novel mechanism for gene regulation. Nature 1986;322(6079):562–325.
- Al Moamen NJ, Mahdi F, Salman E, et al. Silent β-thalassemia mutations at –101 (C>T) and –71 (C>T) and their coinheritance with the sickle cell mutation in Bahrain. Hemoglobin. 2013;37(4):369–377.
- Sheeran C, Weekes K, Shaw J, et al. Complications of HbH disease in adulthood. Br J Haematol. 2014;167(1):136–139.
- Kanavakis E, Papassotiriou I, Karagiorga M, et al. Phenotypic and molecular diversity of Haemoglobin H disease: a Greek experience. Br J Haematol. 2000;111(3):915–923.
- Fucharoen S, Viprakasit V. Hb H disease: clinical course and disease modifiers. Hematology Am Soc Hematol Educ Program. 2009:26–34.
- Orkin SH, Goff SC, Hechtman RL. Mutation in an intervening sequence splice junction in man. Proc Natl Acad Sci USA. 1981;78(8):5041–5045.
- Borgio JF. Impact of annotation error in α-globin genes on molecular diagnosis. PLoS One. 2017;12(10):e0185270.
- Hamamy H, Al-Allawi N. Epidemiological profile of common haemoglobinopathies in Arab countries. J Community Genet. 2013;4(2):147–167.
- Akhtar MS, Qaw F, Borgio JF, et al. Spectrum of α-thalassemia mutations in transfusion-dependent α-thalassemia patients from the Eastern Province of Saudi Arabia. Hemoglobin. 2013;37(1):65–73.
- Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford (Oxfordshire, UK): Blackwell Science; 2001.
- Wali Y, Al Zadjali S, Elshinawy M, et al. Severity ranking of non-deletional α thalassemic alleles: insights from an Omani family study. Eur J Haemtol. 2011;86(6):507–511.