Retrospective study of maternal and pregnancy outcomes in women with transfusion dependent haemoglobinopathy

Arunima Jain*1,2, Alma Corker*2,3, Leanne Crnek3, Ricci Amoils4, Antonia Shand5,6,7, Giselle Kidson-Gerber2,3,8

1Department of Obstetric Medicine, Royal Hospital for Women, Sydney, Australia, 2School of Clinical Medicine, Faculty of Medicine & Health, University of New South Wales, Sydney, Australia, 3Department of Haematology, Prince of Wales Hospital, Sydney, Australia, 4Department of Obstetrics and Gynaecology, Royal Hospital for Women, Sydney, Australia, 5Department of Maternal-Fetal Medicine, Royal Hospital for Women, Sydney, Australia, 6Department of Maternal Fetal Medicine, Royal North Shore Hospital, Sydney, Australia, 7Faculty of Medicine & Health, University of Sydney, Sydney, Australia, 8New South Wales Health Pathology, Sydney, Australia

Biography:

Dr Arunima Jain is an early career Nephrologist, currently dual training in Obstetric Medicine at the Royal Hospital for Women in Sydney. She has been awarded a NHMRC Postgraduate Scholarship to pursue her PhD next year, which focuses on improving diagnosis and management of kidney disease in and beyond pregnancy.

Abstract:

Background: With advancing medical care, life expectancy in patients with transfusion-dependent (TD)-haemoglobinopathy has improved.[1] Globally, limited data through case reports and cohort studies report pregnancy and fertility outcomes.[2,3]

Aim: To report patient characteristics, maternal and fetal outcomes in women with TD-haemoglobinopathy at a tertiary centre.

Methods: Local registry of women with TD-haemoglobinopathy who had a pregnancy ≥20 weeks between 1991-2023 was reviewed. Maternal and fetal outcomes were extracted from electronic medical records (1991-2023); and available pregnancy outcomes reported (after 2001).

Results: Overall, 22 pregnancies were analysed from 16 women (1991-2003). Twelve pregnancies (54.5%) required assisted reproduction. All pregnancies resulted in live births with a total of 23 babies. There were two multiple pregnancies – one set of twins and one woman with quadruplets from ovarian stimulation; fetal reduction led to twins with subsequent single intrauterine demise.

Of these pregnancies, 20/22 (90.9%) were carried by women with TD-thalassaemia and two with TD-sickle cell disease (9.1%). One woman had non-TD beta-thalassaemia who became TD post-pregnancy. All women required blood transfusions during pregnancy.

Pregnancy outcomes were available for 16 pregnancies (11 women, two multiple pregnancies, 17 live births). Pre-existing comorbidities included: hypopituitarism (4/16; 25%), cardiovascular disease (3/16; 18.8%), kidney disease (2/16, 12.5%) and diabetes (2/16, 12.5%). Pregnancy complications included: gestational diabetes (4/16, 25%), preeclampsia (2/16, 12.5%), gestational hypertension (1/16, 6.3%), and postpartum haemorrhage (6/15, 40%).

Of the live births within this cohort, 12/17 (70.6%) were born via caesarean and five vaginally (29.4%). Seven babies were born preterm (41.2%) with 5/15 (33.3%) requiring special/neonatal intensive care. Five babies (29.4%) weighed <2500 grams (median 2875, IQR 2100-3080).

Conclusions: While acknowledging significant risks of pregnancy complications and preterm births, all pregnancies ≥20 weeks in women with TD-haemoglobinopathy resulted in live births. This highlights the need for ongoing collaborative research to guide evidence-based care in this cohort.

Keywords

haemoglobinopathy, pregnancy, thalassaemia

References

1) Vitrano A, Calvaruso G, Lai E, Colletta G, Quota A, Gerardi C, et al. The era of comparable life expectancy between thalassaemia major and intermedia: Is it time to revisit the major-intermedia dichotomy? Br J Haematol. 2017 Jan;176(1):124-130. doi: 10.1111/bjh.14381.

2) Anderson S, Perram J, Nelson A, Matthews S, Gou M, Ho PJ. Pregnancy and assisted reproductive technology use in Australian female transfusion-dependent haemoglobinopathy patients: a 20-year retrospective analysis. Intern Med J. 2024;54(2):290-294. doi: 10.1111/imj.16169.

3) Cassinerio E, Baldini IM, Alameddine RS, Marcon A, Borroni R, Ossola W, et al. Pregnancy in patients with thalassemia major: a cohort study and conclusions for an adequate care management approach. Ann Hematol. 2017;96(6):1015-1021. doi: 10.1007/s00277-017-2979-9.