References
- Origa R, Moi P. α-Thalassemia. GeneReviews® [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1435/.
- Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2017;391(10116):155–167.
- Galanello R, Cao A. α-Thalassemia. Genet Med. 2011;13(2):83–88.
- Stevenson RE. α-Thalassemia X-linked intellectual disability syndrome. GeneReviews® [Internet]. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1449/.
- Deleye L, Dheedene A, De Coninck D, et al. Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts. Fertil Steril. 2015;104(5):1276–1285.
- Khosravi A, Jalali-Far M, Saki N, et al. Evalution of α-globin gene mutations among different ethnic groups in Khuzestan Province, Southwest Iran. Hemoglobin. 2016;40(2):113–117.
- Coelho A, Picanço I, Seuanes F, et al. Novel large deletions in the human α-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis. 2010;45(2):147–153.
- Pfeifer D. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics. 2000;63(1):108–116.
- Higgs DR. The molecular basis of α-thalassemia. Cold Spring Harb Perspect Med. 2013;3:a011718.
- Harteveld C. Refinement of the genetic cause of ATR-16. Hum Genet. 2007;122(3–4):283–292.
- Bezerra MACB, Araujo AS, Phylipsen M, et al. The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil. Br. J. Haematol. 2008;142(2):308–326.
- Dahmen RP, Koch A, Denkhaus D, et al. Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas. Cancer Res. 2001;61(19):7039–7043.
- Horsley SW, Daniels RJ, Anguita E, et al. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. Eur J Hum Genet. 2001;9(3):217–225.
- 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.
- Songdej D, Babbs C, Higgs DR. An international registry of survivors with Hb Bart’s hydrops fetalis syndrome. Blood. 2017;129(10):1251–1259.
- Al-Allawi NAS, Shamdeen MY, Rasheed NS. Homozygosity for the Mediterranean α-thalassemic deletion (Hemoglobin Bart’s hydrops fetalis). Ann Saudi Med. 2010;30(2):153–155.