References
- Turner, A.; Sasse, J.; Varadi, A. Rapid detection of pathological mutations and deletions of the Haemoglobin Beta Gene (HBB) by High Resolution Melting (HRM) Analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). BMC Med. Genet. 2016, 17, 75.
- Galanello, R.; Origa, R. Beta-thalassemia. Orphanet. J. Rare Dis. 2010, 5, 11.
- Derakhshandeh-Peykar, P.; Akhavan-Niaki, H.; Tamaddoni, A.; Ghawidel-Parsa, S.; Naieni, K. H.; Rahmani, M.; Babrzadeh, F.; Dilmaghani-Zadeh, M.; Farhud, D. D. Distribution of beta-thalassemia mutations in the Northern Provinces of Iran. Hemoglobin 2007, 31, 351–356.
- Habibzadeh, F. Thalassemia in Iran; An overview. Arch. Iran Med. 1998, 1, 27–33.
- Hilliard, L. M.; Berkow, R. L. The thalassemia syndromes. Primary Care Update OB/GYNS 1996, 3, 157–162.
- Piel, F. B.; Weatherall, D. J. The α-thalassemias. N. Engl. J. Med. 2014, 371, 1908–1916.
- Muncie, H. L.; Jr.; Campbell, J. Alpha and beta thalassemia. Am. Fam. Physician 2009, 80, 339–344.
- Cappellini, M. I09 thalassemia syndromes. Blood Rev. 2007, 21, S34–S35.
- Cao, A.; Galanello, R. Beta-thalassemia. Genet. Med. 2010, 12, 61–76.
- Viprakasit, V.; Ekwattanakit, S. Clinical classification, screening and diagnosis for thalassemia. Hematol./Oncol. Clin. N. Am. 2018, 32, 193–211.
- Zafari, M.; Kowsaryan, M.; Gill, P.; Banihashemi, A. Non invasive prenatal diagnosis of β-thalassemia, a narrative review study. Bangladesh J. Med. Sci. 2017, 16, 196–202.
- Devers, P. L.; Cronister, A.; Ormond, K. E.; Facio, F.; Brasington, C. K.; Flodman, P. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the national society of genetic counselors. J. Genet. Counsel. 2013, 22, 291–295.
- Cappellini, M.-D.; Cohen, A.; Porter, J.; Taher, A.; Viprakasit, V. Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT); Thalassaemia International Federation: Nicosia (CY), 2014.]
- Eleftheriou, A. Guidelines for the Management of Nontransfusion Dependent Thalassaemia (NTDT); Thalassaemia International Federation: Nicosia, CY, 2007.
- Tischler, R.; Hudgins, L.; Blumenfeld, Y. J.; Greely, H. T.; Ormond, K. E. Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake. Prenat. Diagn. 2011, 31, 1292–1299.
- Lench, N.; Barrett, A.; Fielding, S.; McKay, F.; Hill, M.; Jenkins, L.; White, H.; Chitty, L. S. The clinical implementation of non‐invasive prenatal diagnosis for single‐gene disorders: challenges and progress made. Prenat. Diagn. 2013, 33, 555–562.
- Lam, K.-W. G.; Jiang, P.; Liao, G. J. W.; Chan, K. C. A.; Leung, T. Y.; Chiu, R. W. K.; Lo, Y. M. D. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. Clin. Chem. 2012, 58, 1467–1475.
- Papasavva, T.; Kalikas, I.; Kyrri, A.; Kleanthous, M. Arrayed primer extension for the noninvasive prenatal diagnosis of β‐thalassemia based on detection of single nucleotide polymorphisms. Ann. N. Y. Acad. Sci. 2008, 1137, 302–308.
- Ayatollahi, M.; Merat, A.; Haghshenas, M. Ava II site as a marker of β-globin gene polymorphism, among normal and sickle cell patients in Iran. Iran. Biomed. J. 2001, 5, 117–119.
- Shaikho, E. M.; Farrell, J. J.; Alsultan, A.; Qutub, H.; Al-Ali, A. K.; Figueiredo, M. S.; Chui, D. H. K.; Farrer, L. A.; Murphy, G. J.; Mostoslavsky, G.; et al. A phased SNP-based classification of sickle cell anemia HBB haplotypes. BMC Genomics 2017, 18, 608.
- Papasavva, T.; van IJcken, W. F. J.; Kockx, C. E. M.; van den Hout, M. C. G. N.; Kountouris, P.; Kythreotis, L.; Kalogirou, E.; Grosveld, F. G.; Kleanthous, M. Next generation sequencing of SNPS for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Eur. J. Hum. Genet. 2013, 21, 1403–1410.
- Akinsheye, I.; Alsultan, A.; Solovieff, N.; Ngo, D.; Baldwin, C. T.; Sebastiani, P.; Chui, D. H. K.; Steinberg, M. H. Fetal hemoglobin in sickle cell anemia. Blood 2011, 118, 19–27.
- Bailey, J. W.; Williams, J.; Bain, B. J.; Parker-Williams, J.; Chiodini, P. L. Guideline: the laboratory diagnosis of malaria. General Haematology Task Force of the British Committee for Standards in Haematology. Br. J. Haematol. 2013, 163, 573–580.
- De Sanctis, V.; Elsedfy, H. Clinical and biochemical data of adult Thalassemia Major Patients (TM) with Multiple Endocrine Complications (MEC) versus TM Patients with normal endocrine functions: a long-term retrospective study (40 Years) in a Tertiary Care Center in Italy. Mediterr. J. Hematol. Infect. Dis. 2016, 8, 2016022.
- Little, S. Amplification‐Refractory Mutation System (ARMS) analysis of point mutations. Curr. Protocols Hum. Genetics 2001, 12, 9.8–1-9.8.
- Kwok, S.; Kellogg, D. E.; McKinney, N.; Spasic, D.; Goda, L.; Levenson, C.; Sninsky, J. J. Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies. Nucleic Acids Res. 1990, 18, 999–1005.
- Chiu, R. W. K.; Lau, T. K.; Leung, T. N.; Chow, K. C. K.; Chui, D. H. K.; Lo, Y. M. D. Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002, 360, 998–1000.
- Li, Y. Detection of paternally inherited fetal point mutations for β-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005, 293, 843–849.
- Galbiati, S.; Foglieni, B.; Travi, M.; Curcio, C.; Restagno, G.; Sbaiz, L.; Smid, M.; Pasi, F.; Ferrari, A.; Ferrari, M.; et al. Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of β-thalassemia. Haematologica 2008, 93, 610–614.
- Galbiati, S.; Brisci, A.; Lalatta, F.; Seia, M.; Makrigiorgos, G. M.; Ferrari, M.; Cremonesi, L. Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin. Chem. 2011, 57, 136–138.
- Papasavva, T.; Kalakoutis, G.; Kalikas, I.; Neokli, E.; Papacharalambous, S.; Kyrri, A.; Kleanthous, M. Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia. Ann. N. Y. Acad. Sci. 2006, 1075, 148–153. (
- Old, J. M.; Petrou, M.; Modell, B.; Weatherall, D. J. Feasibility of antenatal diagnosis of beta thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations. Br. J. Haematol. 1984, 57, 255–263.
- Motovali-Bashi, M.; Sajadpoor, Z.; Hajihoseini, S. Investigation of BamHI and AvaII polymorphisms at beta globin cluster gene and its association with beta thalassemia disease in Esfahan population. Res. Med. 2015, 38, 226–232.