Angastiniotis, M, Modell, B, Englezos, P, Boulyjenkou, V. Prevention and control of hemoglobinopathies. Bulletin of the World Health Organization 1995; 73: 375–386Google Scholar

UK NSC & UK Joint Committee on Medical Genetics Statement on Genetic Carrier Testing; 2012.Google Scholar

Streetley, A, Latinovic, R, Hall, K, Henthorn, K. Implementation of universal newborn bloodspot screening for sickle cell disease and other clinically significant hemoglobinopathies in England: screening results for 2005–7. Journal of Clinical Pathology 2009; 62: 26–30Google Scholar

NHS Sickle Cell and Thalassemia Screening Programmes/Sicke Cell Society. Sickle Cell Disease in Childhood: Standards and Guidelines for Clinical Care, 2nd edn. London: NHS Sickle Cell and Thalassaemia Screening Programme in partnership with the Sickle Cell Society; 2010.Google Scholar

Howard, J, Telfer, P. Sickle Cell Disease in Clinical Practice. London: Springer; 2015.CrossRefGoogle Scholar

Oteng-Ntim, E, Ayensah, B, Knight, M, Howard, J. Pregnancy outcome in patients with sickle cell disease in the UK – a national cohort study comparing sickle cell anemia (Hb SS) with Hb SC disease. British Journal of Hematology 2015; 169(1): 129–137.CrossRefGoogle Scholar

Oteng-Ntim, E, Meeks, D, Seed, P. Adverse maternal and perinatal outcomes in pregnant women with sickle cell disease: systematic review and meta-analysis. Blood 2015; 125(21): 3316–3325.Google Scholar

CEMACH. Why Mothers Die 2000–2002. The Sixth Report of the Confidential Enquiries into Maternal Deaths in the United Kingdom. London: RCOG Press; 2004.Google Scholar

CEMACH. Saving Mothers’ Lives: Reviewing Maternal Deaths to make Motherhood Safer: 2003–2005. The Seventh Report of the Confidential Enquiries into Maternal Deaths in the United Kingdom. London: RCOG Press; 2007.Google Scholar

CMACE. Saving Mothers’ Lives: Reviewing Maternal Deaths to make Motherhood Safer: 2006–2008. The Eighth Report of the Confidential Enquiries into Maternal Deaths in the United Kingdom. British Journal of Obstetrics and Gynaecology 2011; 118: 1–203Google Scholar

MBRRACE-UK. Saving Lives, Improving Mothers’ Care. Lessons Learned to Inform Future Maternity Care from the UK and Ireland Confidential Enquiries into Maternal Deaths and Morbidity 2009–2012. Oxford: National Perinatal Epidemiology Unit, University of Oxford; 2014.Google Scholar

NCEPOD. A Sickle Crisis? A Report of the National Confidential Enquiry into Patient Outcome and Death. London: NCEPOD; 2008.Google Scholar

Smith-Whitley, K. Reproductive issues in sickle cell disease. Blood 2014; 124(24), 3538–3543.CrossRefGoogle ScholarPubMed

Sickle Cell Society. Pregnancy, contraception and fertility. In Standards for the Clinical Care of Adults with Sickle Cell Disease in the UK. London: Sickle Cell Society; 2008: pp. 59–68.Google Scholar

Royal College of Obstetricians and Gynecologists. Management of Sickle Cell Disease in Pregnancy. Green-Top Guideline No. 61. London: Royal College of Obstetricians and Gynecologists; 2011.Google Scholar

Royal College of Obstetricians and Gynecologists. Management of Beta Thalassemia in Pregnancy. Green-Top Guideline No. 66. London: Royal College of Obstetricians and Gynecologists; 2014.Google Scholar

Koshy, M, Burd, L, Wallace, D et al. Prophylactic red cell transfusion in pregnant patients with sickle cell disease. a randomised comparative study. New England Journal of Medicine 1998; 319: 1447–1452CrossRefGoogle Scholar

Howard, RJ, Tuck, SM, Pearson, TC. Pregnancy in sickle cell disease in the UK: results of a multicenter survey of the effect of prophylactic blood transfusion on maternal and fetal outcome. British Journal of Obstetrics and Gynecology 1995; 102(12): 947–951.CrossRefGoogle ScholarPubMed

Asma, S, Kozanoglu, I, Tarım, E et al. Prophylactic red blood cell exchange may be beneficial in the management of sickle cell disease in pregnancy. Transfusion 2015; 55: 36–44.CrossRefGoogle ScholarPubMed

NICE. Sickle cell acute painful episode: management of an acute painful sickle cell episode in hospital. NICE Clinical Guideline 143, June 2012.Google Scholar

Howard, J Hart, N, Roberts-Harewood, M et al. Guideline on the management of Acute Chest Syndrome in Sickle Cell Disease. General Hematology Task Force of the British Committee for Standards in Hematology (BCSH); 2015.CrossRefGoogle Scholar

Seaman, CD, Yabes, J, Moore, CG, Ragni, MV. Venous thromboembolism in pregnant women with SCD: A retrospective database analysis. Thrombosis Research 2014; 134(6): 1249–1252.CrossRefGoogle ScholarPubMed

Noubouossie, D, Key, NS. Sickle cell disease and venous thromboembolism in pregnancy and the puerperium. Thrombosis Research 2015; 135(S1): S46–S48.CrossRefGoogle ScholarPubMed

Pintova, S, Cohen, HW, Billett, HH. Sickle cell trait: is there an increased VTE risk in pregnancy and the postpartum? PLoS One 2013; 8(5): 1–6.CrossRefGoogle ScholarPubMed

Royal College of Obstetricians and Gynecologists. Thrombosis and Embolism during Pregnancy and the Puerperium, Reducing the Risk. Green-Top Guideline No. 37a. London: Royal College of Obstetricians and Gynecologists; 2015.Google Scholar

Kabrhel, C, Mark Courtney, D, Camargo, CA Jr et al. Factors associated with positive D-dimer results in patients evaluated for pulmonary embolism. Academic Emergency Medicine 2010; 17(6): 589–597.CrossRefGoogle ScholarPubMed

Royal College of Obstetricians and Gynecologists. Thromboembolic Disease in Pregnancy and the Puerperium: Acute Management. Green-Top Guideline No. 37b. London: Royal College of Obstetricians and Gynecologists; 2015.Google Scholar

Cappellini, MD, Cohen, A, Porter, J, Taher, A, Viprakasit, V, eds. Guidelines for the Management of Transfusion Dependent Thalassemia (TDT). Nicosia (CY): Thalassemia International Federation. ©2014 Thalassemia International Federation; 2014.Google Scholar

Weatherall, DJ. Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews Genetics 2001; 2(4):245–255.Google Scholar

Taher, AT, Musallam, KM, Karimi, M, et al. Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study. Blood 2010; 115(10):1886–1892.Google Scholar

Weatherall, DJ. Thalassemia in the next millennium. Keynote address. Annals of the New York Academy of Sciences 1998; 850: 1–9.Google Scholar

Skordis, N, Christou, S, Koliou, M, Pavlides, N, Angastiniotis, M. Fertility in female patients with thalassemia. Journal of Pediatric Endocrinology and Metabolism 1998; 11 (Suppl 3): 935–943.Google ScholarPubMed

Jensen, CE, Tuck, SM, Agnew, JE et al. High incidence of osteoporosis in thalassemia major. Journal of Pediatric Endocrinology and Metabolism 1998; 11 (Suppl 3): 975–977.Google Scholar

De Sanctis, V, Vullo, C, Katz, M et al. Hypothalamic-pituitary-gonadal axis in thalassemic patients with secondary amenorrhea. Obstetrics and Gynecology 1988; 72(4): 643–647.Google Scholar

Borgna-Pignatti, C, Rugolotto, S, De Stefano, P et al. Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Hematologica 2004; 89(10): 1187–1193.Google ScholarPubMed

Modell, B, Khan, M, Darlison, M. Survival in beta-thalassemia major in the UK: data from the UK Thalassemia Register. Lancet 2000; 355(9220): 2051–2052.CrossRefGoogle ScholarPubMed

Tolis, GJ, Vlachopapadopoulou, E, Karydis, I. Reproductive health in patients with beta-thalassemia. Current Opinion in Pediatrics 1996; 8(4): 406–410.CrossRefGoogle ScholarPubMed

Origa, R, Piga, A, Quarta, G et al. Pregnancy and beta-thalassemia: an Italian multicenter experience. Hematologica 2010; 95(3): 376–381.CrossRefGoogle ScholarPubMed

Fiorentino, F, Biricik, A, Nuccitelli, A et al. Strategies and clinical outcome of 250 cycles of preimplantation genetic diagnosis for single gene disorders. Human Reproduction 2006; 21(3): 670–684.Google Scholar

Voskaridou, E, Balassopoulou, A, Boutou, E et al. Pregnancy in beta-thalassemia intermedia: 20-year experience of a Greek thalassemia center. European Journal of Hematology 2014; 93(6): 492–499.CrossRefGoogle ScholarPubMed

MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991; 338(8760): 131–137.CrossRefGoogle Scholar

Taher, AT, Musallam, KM, Cappellini, MD, Weatherall, DJ. Optimal management of beta thalassemia intermedia. British Journal of Haematology 2011; 152(5): 512–523.Google Scholar

Cappellini, MD, Robbiolo, L, Bottasso, BM et al. Venous thromboembolism and hypercoagulability in splenectomized patients with thalassemia intermedia. British Journal of Haematology 2000; 111(2): 467–473.Google Scholar

Cappellini, MD, Poggiali, E, Taher, AT, Musallam, KM. Hypercoagulability in beta-thalassemia: a status quo. Expert Review of Hematology 2012; 5(5): 505–511; quiz 12.CrossRefGoogle ScholarPubMed

Faculty of Reproductive and Sexual Health Care. UK Medical Eligibility Criteria for Contraceptive Use. London: FRSHC; 2009.Google Scholar

Voskaridou, E, Ladis, V, Kattamis, A et al. A national registry of hemoglobinopathies in Greece: deducted demographics, trends in mortality and affected births. Annals of Hematology 2012; 91(9): 1451–1458.CrossRefGoogle Scholar

Nick, H, Wong, A, Acklin, P et al. ICL670A: preclinical profile. Advances in Experimental Medicine and Biology 2002; 509: 185–203.CrossRefGoogle ScholarPubMed

Khoury, S, Odeh, M, Oettinger, M. Deferoxamine treatment for acute iron intoxication in pregnancy. Acta Obstetricia et Gynecologica Scandinavica 1995; 74(9): 756–757.Google Scholar

Singer, ST, Vichinsky, EP. Deferoxamine treatment during pregnancy: is it harmful? American Journal of Hematology 1999; 60(1): 24–26.3.0.CO;2-C>CrossRefGoogle ScholarPubMed

Kirk, P, Roughton, M, Porter, JB et al. Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation 2009; 120(20): 1961–1968.Google Scholar

National Institute for Health and Care Excellence (NICE). Diabetes in pregnancy: management of diabetes and its complications from pre-conception to the postnatal period. Clinical Guideline CG63; 2008.Google Scholar

Spencer, DH, Grossman, BJ, Scott, MG. Red cell transfusion decreases hemoglobin A1c in patients with diabetes. Clinical Chemistry 2011; 57(2): 344–346.CrossRefGoogle ScholarPubMed

Abalovich, M, Amino, N, Barbour, LA et al. Management of thyroid dysfunction during pregnancy and postpartum: an Endocrine Society Clinical Practice Guideline. Journal of Clinical Endocrinology and Metabolism 2007 92(8 Suppl): S1–47.Google Scholar

Walsh, JM, McGowan, CA, Kilbane, M, McKenna, MJ, McAuliffe, FM. The relationship between maternal and fetal vitamin D, insulin resistance, and fetal growth. Reproductive Sciences 2013; 20(5): 536–541.CrossRefGoogle ScholarPubMed

Thompson, AA, Cunningham, MJ, Singer, ST et al. Red cell alloimmunization in a diverse population of transfused patients with thalassemia. British Journal of Haematology 2011; 153(1): 121–128.Google Scholar

Globin Gene Server; 2015. Available from: http://globin.cse.psu.edu/.Google Scholar

Serjeant, GH, Sergeant, B. Sickle Cell Disease, 3rd edn. Oxford: Oxford Medical Publications; 2001.Google Scholar

Henderson, S, Timbs, A, McCarthy, J et al. Incidence of hemoglobinopathies in various populations – the impact of immigration. Clinical Biochemistry 2009; 42(18): 1745–1756.Google Scholar

Sorour, Y, Heppinstall, S, Porter, N et al. Is routine molecular screening for common alpha-thalassemia deletions necessary as part of an antenatal screening programme? Journal of Medical Screening 2007; 14(2): 60–1.Google Scholar

Old, JM, Ward, RH, Petrou, M et al. First-trimester fetal diagnosis for hemoglobinopathies: three cases. Lance 1982; 2(8313): 1413–1416.CrossRefGoogle ScholarPubMed

Tabor, A, Alfirevic, Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagnosis and Therapy 2010; 27(1): 1–7.Google Scholar

Weatherall, DJ. The role of the inherited disorders of hemoglobin, the first “molecular diseases,” in the future of human genetics. Annual Review of Genomics and Human Genetics 2013; 14: 1–24.CrossRefGoogle ScholarPubMed

Thein, SL. Genetic modifiers of beta-thalassemia. Hematologica 2005; 90(5): 649–660.Google ScholarPubMed

Harteveld, CL, Higgs, DR. Alpha-thalassemia. Orphanet Journal of Rare Diseases 2010; 5: 13.CrossRefGoogle Scholar

Chui, DH. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Annals of the New York Academy of Sciences 2005; 1054: 25–32.Google Scholar

Henderson, S, Pitman, M, McCarthy, J, Molyneux, A, Old, J. Molecular prenatal diagnosis of Hb H hydrops fetalis caused by hemoglobin Adana and the implications to antenatal screening for alpha-thalassemia. Prenatal Diagnosis 2008; 28(9): 859–861.Google Scholar

Treger-Synodinos, J, Harteveld, CL, Old, JM et al. EMQN Best Practice Guidelines for molecular and hematology methods for carrier identification and prenatal diagnosis of the hemoglobinopathies. European Journal of Human Genetics 2015; 23(4): 426–437.CrossRefGoogle Scholar

Old, J, Henderson, S. Molecular diagnostics for hemoglobinopathies. Expert Opinion on Medical Diagnostics 2010; (3): 225–240.CrossRefGoogle Scholar

Brezina, PR, Brezina, DS, Kearns, WG. Preimplantation genetic testing. BMJ 2012; 345: e5908.CrossRefGoogle ScholarPubMed

Mastenbroek, S, Twisk, M, van der Veen, F, Repping, S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Human Reproduction Update 2011; 17(4): 454–466.Google Scholar

Lo, YM. Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA. Open Biology 2012; 2(6): 120086.Google Scholar

Lun, FM, Chiu, RW, Chan, KC et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clinical Chemistry 2008; 54(10):1664–1672.Google Scholar

Fan, HC, Gu, W, Wang, J et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012; 487(7407): 320–324.Google Scholar

Phylipsen, M, Yamsri, S, Treffers, EE et al. Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. Prenatal Diagnosis 2012; 32(6): 578–587.CrossRefGoogle ScholarPubMed

Barrett, AN, McDonnell, TC, Chan, KC, Chitty, LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clinical Chemistry 2012; 58(6): 1026–1032.Google Scholar

Public Health England. NHS Sickle Cell and Thalassaemia Screening: handbook for antenatal laboratories; Sept 2017 https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/647349/Antenatal Laboratory Handbook.pdf (accessed Oct 27, 2017)Google Scholar

Public Health England. NHS Sickle Cell and Thalassaemia Screening: handbook for antenatal laboratories; Jan 2017 https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/585126/NHS_SCT_Handbook_for_Newborn_Laboratories.pdf (accessed Oct 27, 2017).Google Scholar

Singer, ST, Vichinsky, EP. Deferoxamine treatment during pregnancy: is it harmful? American Journal of Hematology 1999; 60(1): 24–26.Google Scholar

Gallagher, PG. Abnormalities of the erythrocyte membrane. Pediatric Clinics of North America 2013; 60(6): 1349–1362.Google Scholar

Pajor, A, Lehoczky, D, Szakács, Z. Pregnancy and hereditary spherocytosis: Report of 8 patients and a review. Archives of Gynecology and Obstetrics 1993; 253(1): 37–42.Google Scholar

Perrotta, S, Gallagher, P, Mohandas, N. Hereditary spherocytosis. Lancet 2008; 372(9647): 1411–1426.Google Scholar

Molad, M, Waisman, D, Rotschild, A et al. Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia. Journal of Perinatology 2013; 33: 490–491.Google Scholar

Sirugo, G, Schefer, EA, Mendy, A et al. Is G6PD A- deficiency associated with recurrent stillbirths in The Gambia? American Journal of Medical Genetics A 2004; 128A(1): 104–5.CrossRefGoogle ScholarPubMed

Zanella, A, Fermo, E, Bianchi, P, Chiarelli, LR, Valentini, G. Pyruvate kinase deficiency: The genotype-phenotype association. Blood Reviews 2007; 21: 217–231.Google Scholar

Wax, JR, Pinette, MG, Cartin, A, Blackstone, J. Pyruvate kinase deficiency complicating pregnancy. Obstetrics and Gynecology 2007; 109(2 Pt2): 553–555.Google Scholar

Bard, H, Rosenberg, A, Huisman, TH. Hemoglobinopathies affecting maternal-fetal oxygen gradient during pregnancy: molecular, biochemical and clinical studies. American Journal of Perinatology 1998; 15(6): 389–393.Google Scholar

Iolascon, A, Heimpel, H, Wahlin, A, Tamary, H. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 2013; 122(13): 2162–2166.CrossRefGoogle ScholarPubMed

Shalev, H, Avraham, GP, Hershkovitz, R, et al. Pregnancy outcome in congenital dyserythropoietic anemia Type 1. European Journal of Haematology 2008; 81: 317–321.CrossRefGoogle Scholar

Da Costa, L, Chanoz-Poulard, G, Simansour, M et al. First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond-Blackfan anemia. American Journal of Hematology 2013; 88(4): 340–341.CrossRefGoogle ScholarPubMed

Faivre, L, Meerpohl, J, Da Costa, L et al. High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. Hematologica 2006; 91: 530–533.Google Scholar

Vlachos, A, Ball, S, Dahl, N et al. Diagnosing and treating Diamond Blackfan anemia: results of an international clinical consensus conference. British Journal of Haematology 2008; 142(6): 859–876.Google Scholar

Alter, BP, Frissora, CL, Halpérin, DS et al. Fanconi’s anemia and pregnancy. British Journal of Haematology 1991; 77(3): 410–418.CrossRefGoogle ScholarPubMed

Rubin, LG, Schaffner, W. Clinical practice: Care of the asplenic patient. New England Journal of Medicine 2014; 371(4): 349–356.Google Scholar

Crane, J, Mundle, W, Boucoiran, I et al. Parvovirus B19 infection in pregnancy. Journal of Obstetrics and Gynecology Canada 2014; 36(12): 1107–1116.CrossRefGoogle ScholarPubMed