Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-78c5997874-8bhkd Total loading time: 0 Render date: 2024-11-14T10:03:29.477Z Has data issue: false hasContentIssue false

Section 3 - Inherited Red Cell Disorders

Published online by Cambridge University Press:  01 February 2018

Edited by
Sue Pavord  and
Beverley Hunt
Sue Pavord
Affiliation:
University of Oxford
Beverley Hunt
Affiliation:
King's College London
Get access
Type
Chapter
Information
The Obstetric Hematology Manual , pp. 57 - 102
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

References

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

References

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

References

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

References

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

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×