Hemoglobinopathies in pregnancy

Hematological Complications in Obstetrics, Pregnancy, and Gynecology

Volumn , Issue , 2006, Pages 442-468

  Adewoye, Adeboye H ^a   Steinberg, Martin H ^a  

^a BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84928417671     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511526978.014     Document Type: Chapter

References (98)

1. Steinberg, M.H. Management of sickle cell disease. N. Engl. J. Med., 1999; 340(13): 1021–30.
2. Embury, S. H. H. R., Mohandas, N., Steinberg, M. H. Sickle Cell Disease: Basic Principles and Clinical Practice, 1st edn. New York, NY: Raven Press; 1994.
3. Brugnara, C. Red cell membrane in sickle cell disease. In Steinberg, M. H. F. D., Nagel, R. L., eds., Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management, Cambridge: Cambridge University Press; 2001, 550–76.
4. Frempong, K. S. M. Clinical aspects of sickle cell anemia in adults and children. In Steinberg, M. H. F. D., Nagel, R. L., eds., Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical management, Cambridge: Cambridge University Press; 2001 611–710.
5. Fabry, M. E., Nagel, R. L. The effect of deoxygenation on red cell density: significance for the pathophysiology of sickle cell anemia. Blood, 1982; 60(6): 1370–7.
6. Kaul, D. K., Fabry, M. E., Nagel, R. L., The pathophysiology of vascular obstruction in the sickle syndromes. Blood Rev., 1996; 10(1): 29–44.
7. Nagel, R. The origin of the hemoglobin S gene: Clinical, genetic and anthropological consequences. Einstein Q Journal Biol. Med., 1984; 2: 53–62.
8. Steinberg, M. H., Pathophysiology of sickle cell disease. Baillieres Clin. Haematol., 1998; 11(1): 163–84.
9. Conrad, K. P., Benyo, D. F., Westerhausen-Larsen, A., et al. Expression of erythropoietin by the human placenta. Faseb J., 1996; 10(7): 760–8.
10. Perelman, N., Selvaraj, S. K., Batra, S., et al. Placenta growth factor activates monocytes and correlates with sickle cell disease severity. Blood, 2003; 102(4): 1506–14.
11. Anyaegbunam, A., Mikhail, M., Axioitis, C., et al. Placental histology and placental/fetal weight ratios in pregnant women with sickle cell disease: relationship to pregnancy outcome. J. Assoc. Acad. Minor Phys., 1994; 5(3): 123–5.
12. Decastel, M., Leborgne-Samuel, Y., Alexandre., L, etal. Morphological features of the human umbilical vein in normal, sickle cell trait, and sickle cell disease pregnancies. Hum. Pathol., 1999; 30(1): 13–20.
13. Kucukcelebi, A., Barmatoski, S. P., Barnhart, M. I. Interactions between vessel wall and perfused sickled erythrocytes: preliminary observations. Scan. Electron Microsc., 1980; 3: 243–8.
14. Granger, J. P., Alexander, B. T., Llinas, M. T., et al. Pathophysiology of preeclampsia: linking placental ischemia/hypoxia with microvascular dysfunction. Microcirculation, 2002; 9(3): 147–60.
15. Alleyne, S. I., Rauseo, R. D., Serjeant, G. R. Sexual development and fertility of Jamaican female patients with homozygous sickle cell disease. Arch. Intern. Med., 1981; 141(10): 1295–7.
16. Steinberg, M.H. Sickle cell anemia and iron deficiency. JAMA, 1982; 248(17): 2112–3.
17. Steinberg, M. H. The interactions of alpha-thalassemia with hemoglobinopathies. Hematol. Oncol. Clin. North Am., 1991; 5(3): 453–73.
18. Steinberg, M. H. Modulation of the phenotypic diversity of sickle cell anemia. Hemoglobin, 1996; 20(1): 1–19.
19. Howard, R. J., Tuck, S. M., Pearson, T. C. Pregnancy in sickle cell disease in the UK: results of a multicentre survey of the effect of prophylactic blood transfusion on maternal and fetal outcome. Br. J. Obstet. Gynaecol., 1995; 102(12): 947–51.
20. Powars, D. R., Sandhu, M., Niland-Weiss, J., et al. Pregnancy in sickle cell disease. Obstet. Gynecol., 1986; 67(2): 217–28.
21. Koshy, M., Burd, L. Management of pregnancy in sickle cell syndromes. Hematol. Oncol. Clin. North Am., 1991; 5(3): 585–96.
22. Diav-Citrin, O., Hunnisett, L., Sher, G. D., et al. Hydroxyurea use during pregnancy: a case report in sickle cell disease and review of the literature. Am. J. Hematol., 1999; 60(2): 148–50.
23. Mahomed, K. Prophylactic versus selective blood transfusion for sickle cell anaemia during pregnancy. Cochrane Database Syst. Rev., 2000(2): CD000040.
24. El-Shafei, A. M., Kaur Dhaliwal, J., Kaur Sandhu, A., et al. Indications for blood transfusion in pregnancy with sickle cell disease. Aust. N. Z. J. Obstet. Gynaecol., 1995; 35(4): 405–8.
25. Koshy, M., Burd, L., Wallace, D., et al. Prophylactic red-cell transfusions in pregnant patients with sickle cell disease. A randomized cooperative study. N. Engl. J. Med., 1988; 319(22): 1447–52.
26. Vichinsky, E. P., Styles, L. A., Colangelo, L. H., et al. Acute chest syndrome in sickle cell disease: clinical presentation and course. Cooperative Study of Sickle Cell Disease. Blood, 1997; 89(5): 1787–92.
27. Ohene-Frempong, K., Weiner, S.J., Sleeper, L. A., et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood, 1998; 91(1): 288–94.
28. Markenson, G. R., Yancey, M. K. Parvovirus B19 infections in pregnancy. Semin. Perinatol., 1998; 22(4): 309–17.
29. Fairley, C. K., Smoleniec, J. S., Caul, O. E., et al. Observational study of effect of intrauterine transfusions on outcome of fetal hydrops after parvovirus B19 infection. Lancet, 1995; 346(8986): 1335–7.
30. Selbing, A., Josefsson, A., Dahle, L. O., et al. Parvovirus B19 infection during pregnancy treated with high-dose intravenous gammaglobulin. Lancet, 1995; 345(8950): 660–1.
31. Smith, J. A., Espeland, M., Bellevue, R., et al. Pregnancy in sickle cell disease: experience of the Cooperative Study of Sickle Cell Disease. Obstet. Gynecol., 1996; 87(2): 199–204.
32. Williams, M. A., Farrand, A., Mittendorf, R., et al. Maternal second trimester serum tumor necrosis factor-alpha-soluble receptor p55 (sTNFp55) and subsequent risk of preeclampsia. Am. J. Epidemiol., 1999; 149(4): 323–9.
33. Namiki, A., Hirata, Y., Fukazawa, M., et al. Granulocyte-colony stimulating factor stimulates immunoreactive endothelin-1 release from cultured bovine endothelial cells. Eur. J. Pharmacol., 1992; 227(3): 339–41.
34. Luckas, M., Hawe., J., Meekins, J, et al. Second trimester serum free beta human chorionic gonadotrophin levels as a predictor of pre-eclampsia. Acta Obstet. Gynecol. Scand., 1998; 77(4): 381–4.
35. Huang, S. C., Hsieh, C. Y., Hwang, J. L., et al. Free alpha subunit of human chorionic gonadotropin in women with non-trophoblastic tumors. Taiwan Yi Xue Hui Za Zhi 1989;88(3):218–25.
36. Polliotti, B. M., Fry, A. G., Saller, D. N., et al. Second-trimester maternal serum placental growth factor and vascular endothelial growth factor for predicting severe, early-onset preeclampsia. Obstet. Gynecol., 2003; 101(6): 1266–74.
37. Serjeant, G. R., Sickle haemoglobin and pregnancy. BMJ, (Clin. Res. Ed.), 1983; 287(6393): 628–30.
38. Eaton, J. W., Mucha, J. I. Increased fertility in males with the sickle cell trait? Nature, 1971; 231(5303): 456–7.
39. Blattner, P., Dar, H., Nitowsky, H. M. Pregnancy outcome in women with sickle cell trait. JAMA, 1977; 238(13): 1392–4.
40. Sears, D. A. The morbidity of sickle cell trait: a review of the literature. Am. J. Med., 1978; 64(6): 1021–36.
41. Larrabee, K. D., Monga, M. Women with sickle cell trait are at increased risk for preeclampsia. Am. J. Obstet. Gynecol., 1997; 177(2): 425–8.
42. Hoff, C., Wertelecki, W., Dutt, J., et al. Sickle cell trait, maternal age and pregnancy outcome in primiparous women. Hum. Biol., 1983; 55(4): 763–70.
43. Kramer, M. S., Rooks, Y., Pearson, H. A. Growth and development in children with sicklecell trait. A prospective study of matched pairs. N. Engl. J. Med., 1978; 299(13): 686–9.
44. Rimer, B. A. Sickle-cell trait and pregnancy: A review of a community hospital experience. Am. J. Obstet. Gynecol., 1975; 123(1): 6–11.
45. Koshy, M., Chisum, D., Burd, L., et al. Management of sickle cell anemia and pregnancy. J. Clin. Apheresis, 1991; 6(4): 230–3.
46. Ong, H. C. Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease. Obstet. Gynecol., 1975; 45(6): 672–4.
47. Charache, S., Catalano, P., Burns, S., et al. Pregnancy in carriers of high-affinity hemoglobins. Blood, 1985; 65(3): 713–18.
48. Bard, H., Rosenberg, A., Huisman, T. H. Hemoglobinopathies affecting maternal–fetal oxygen gradient during pregnancy: molecular, biochemical and clinical studies. Am. J. Perinatol., 1998; 15(6): 389–93.
49. Kaeda, J. S., Prasad, K., Howard, R. J., etal. Management of pregnancy when maternal blood has a very high level of fetal haemoglobin. Br. J. Haematol., 1994; 88(2): 432–4.
50. Dozy, A. M., Kan, Y. W., Embury, S. H., et al. Alpha-globin gene organisation in blacks precludes the severe form of alpha-thalassaemia. Nature, 1979; 280(5723): 605–7.
51. Weatherall, D. J., Clegg, J. B. Inherited haemoglobin disorders: an increasing global health problem. Bull. World Health Organ., 2001; 79(8): 704–12.
52. Russell, J., Liebhaber, S.A. Advances in Genome Biology, In Verma, R., ed., Greenwich, CT: JAI Press Inc; 1992.
53. Chan, L. C., So, J. C., Chui, D. H. Comparison of haemoglobin H inclusion bodies with embryonic zeta globin in screening for alpha thalassaemia. J. Clin. Pathol., 1995; 48(9): 861–4.
54. Chan, A. Y., So, C. K., Chan, L. C. Comparison of the HbH inclusion test and a PCR test in routine screening for alpha thalassaemia in Hong Kong. J. Clin. Pathol., 1996; 49(5): 411–13.
55. Galanello, R., Aru, B., Dessi, C., et al. HbH disease in Sardinia: molecular, hematological and clinical aspects. Acta Haematol., 1992; 88(1): 1–6.
56. Ong, H. C., White, J. C., Sinnathuray, T. A. Haemoglobin H disease and pregnancy in a Malaysian woman. Acta Haematol., 1977; 58(4): 229–33.
57. Steinberg, M. H. F. D., Nagel, R. L. Clinical and laboratory features of the alpha thalassemia syndromes. In Steinberg, M.H. F.D., Nagel, R. L., eds., Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press; 2001: 431–69.
58. Chui, D. H., Waye, J. S. Hydrops fetalis caused byalpha-thalassemia: an emerging health care problem. Blood, 1998; 91(7): 2213–22.
59. Chui, D. H., Fucharoen, S., Chan, V. Hemoglobin H disease: not necessarily a benign disorder. Blood, 2003; 101(3): 791–800.
60. Higgs, D. R., Wood, W. G., Jarman, A. P., etal. A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev., 1990; 4(9): 1588–601.
61. Vyas, P., Vickers, M. A., Simmons, D. L., et al. Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin. Cell, 1992; 69(5): 781–93.
62. Higgs, D.R. Alpha-thalassaemia. Baillieres Clin. Haematol., 1993; 6(1): 117–50.
63. Monzon, C. M., Fairbanks, V. F., Burgert, E. O., Jr., et al. Hematologic genetic disorders among Southeast Asian refugees. Am. J. Hematol., 1985; 19(1): 27–36.
64. Hofgartner, W. T., West Keefe, S. F., Tait, J. F. Frequency of deletional alpha-thalassemia genotypes in a predominantly Asian-American population. Am. J. Clin Pathol., 1997; 107(5): 576–81.
65. Fischel-Ghodsian, N., Vickers, M. A., Seip, M., et al. Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL). Br. J. Haematol., 1988; 70(2): 233–8.
66. Waye, J. S., Eng, B., Chui, D. H. Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual. Br. J. Haematol., 1992; 80(3): 378–80.
67. Sophocleous, T., Higgs, D. R., Aldridge, B., et al. The molecular basis for the haemoglobin Bart’s hydrops fetalis syndrome in Cyprus. Br. J. Haematol., 1981; 47(1): 153–6.
68. Nicholls, R. D., Higgs, D. R., Clegg, J. B., etal. Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an Alul repeat. Blood, 1985; 65(6): 1434–8.
69. Weatherall, D. J. The thalassemias. In Stamatoyannopoulos, G. M. P., Varmus, H., eds., The Molecular Basis of Blood Diseases, Toronto: Saunders; 1994.
70. Chitayat, D., Silver, M.M., O’Brien, K., et al. Limb defects in homozygous alpha– thalassemia: report of three cases. Am. J. Med. Genet., 1997; 68(2): 162–7.
71. Abuelo, D. N., Forman, E. N., Rubin, L. P. Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia. Am. J. Med. Genet., 1997; 68(2): 158–61.
72. Liang, S. T., Wong, V. C., So, W. W., et al. Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br. J. Obstet. Gynaecol., 1985; 92(7): 680–4.
73. Ghosh, A., Tang, M. H., Lam, Y. H., et al. Ultrasound measurement of placental thickness to detect pregnancies affected by homozygous alpha-thalassaemia-1. Lancet, 1994; 344(8928): 988–9.
74. Mehr, D. S., Rector, J. T., Ngo, K. Y. Pathological case of the month. Hydrops fetalis secondary to homozygous alpha–thalassemia-1 (Bart’s hemoglobinopathy). Arch. Pediatr. Adolesc. Med., 1994; 148(12): 1313–14.
75. Cheung, M. C., Goldberg, J. D., Kan, Y. W. Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat. Genet., 1996; 14(3): 264–8.
76. Williamson, B. Towards non-invasive prenatal diagnosis. Nat. Genet., 1996; 14(3): 239–40.
77. Rachmilewitz, E. A. S. S. Pathophysiology of beta thalassemia. In Steinberg, M. H. F. D., Nagel, R. L., eds., Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management, Cambridge: Cambridge University Press; 2001: 233–51.
78. Seracchioli, R., Porcu, E., Colombi, C., et al. Transfusion-dependent homozygous beta- thalassaemia major: successful twin pregnancy following in-vitro fertilization and tubal embryo transfer. Hum. Reprod., 1994; 9(10): 1964–5.
79. Tampakoudis, P., Tsatalas, C., Mamopoulos, M., etal. Transfusion–dependent homozygous beta-thalassaemia major: successful pregnancy in five cases. Eur. J. Obstet. Gynecol. Reprod. Biol., 1997; 74(2): 127–31.
80. Cunningham, M. J. M. E., Muraca, G., Neufeld, E. J. Successful pregnancy in thalassemia major women in the thalassemia clinical research network. In American Society of Hematology; 2003: San-Diego, CA.
81. Perniola, R., Magliari, F., Rosatelli, M. C., et al. High-risk pregnancy in beta–thalassemia major women. Report of three cases. Gynecol. Obstet. Invest., 2000; 49(2): 137–9.
82. Wood, J. C. G. N., Carson, S., Tyszka, J., et al. Predictors of abnormal myocardial function and T2* in children and young adults with thalassemia major. Session type: Poster session 64-I. In American Society of Hematology; 2003; San Diego, CA.
83. Palagiano, A., Pace, L., Pregnancy in women with thalassaemia. Minerva Ginecol., 2001; 53(3): 203–7.
84. Singer, S. T., Vichinsky, E. P. Deferoxamine treatment during pregnancy: is it harmful? Am. J. Hematol., 1999; 60(1): 24–6.
85. Adamkiewicz, T. V., Berkovitch, M., Krishnan, C., et al. Infection due to Yersinia entero- colitica in a series of patients with beta-thalassemia: incidence and predisposing factors. Clin. Infect. Dis., 1998; 27(6): 1362–6.
86. Cao, A. R. M., Eckman, J. R. Prenatal diagnosis and screening for thalassemia and sickle cell disease. In Steinberg, M. H. F. D., Nagel, R. L., eds., Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, Cambridge: Cambridge University Press; 2001: 958–78.
87. Agarwal, S., Gupta, A., Gupta, U. R., et al. Prenatal diagnosis in beta-thalassemia: an Indian experience. Fetal Diagn. Ther., 2003; 18(5): 328–32.
88. Wu, G., Hua, L., Zhu, J., et al. Rapid, accurate genotyping of beta-thalassaemia mutations using a novel multiplex primer extension/denaturing high-performance liquid chromatography assay. Br. J. Haematol., 2003; 122(2): 311–16.
89. Chen, X., Livak, K. J., Kwok, P. Y. A homogeneous, ligase-mediated DNA diagnostic test. Genome Res., 1998; 8(5): 549–56.
90. Chang, J. G., Chen, P. H., Chiou, S. S., et al. Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood, 1992; 80(8): 2092–6.
91. Powell, S. M. Direct analysis for familial adenomatous polyposis mutations. Mol. Biotechnol., 2002; 20(2): 197–207.
92. Setianingsih, I.I., Williamson, R., Marzuk, S., et al. Molecular basis of beta-thalassemia in Indonesia: Application to prenatal diagnosis. Mol. Diagn., 1998; 3(1): 11–9.
93. Myers, R. M., Larin, Z., Maniatis, T., Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science, 1985; 230(4731): 1242–6.
94. Hiyama, K., Kodaira, M., Satoh, C., Detection of deletions, insertions and single nucleotide substitutions in cloned beta-globin genes and new polymorphic nucleotide substitutions in beta–globin genes in a Japanese population using ribonuclease cleavage at mismatches in RNA:DNA duplexes. Mutat. Res., 1990; 231(2): 219–31.
95. Platt, O. S., Brambilla, D. J., Rosse, W. F., et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N. Engl. J. Med., 1994; 330: 1639–44.
96. Gladwin, M. T., Sachdev, V., Jison, M. L., et al. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N. Engl. J. Med., 2004; 350: 886–95.
97. Steinberg, M. H., Barton, F., Castro, O., et al. Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment. JAMA, 2003; 289: 1645–51.
98. Sun, P. M., Wilburn, W., Raynor, B. D., et al. Sickle cell disease in pregnancy: 20 years at Grady Memorial Hospital, Atlanta, GA. Am. J. Obstet. Gynecol., 2001; 184(6): 1127–30.