Exploring the Spectrum: Hemoglobinopathies in Pregnancy and their Clinical Implications

Abstract:
The present study aimed to investigate the maternal and fetal outcomes of pregnant women presenting to a tertiary healthcare facility with beta thalassemia trait, hemoglobinopathy E, and sickle cell trait. This retrospective study of a series of cases presented to a tertiary healthcare facility, Saveetha Medical College, Thandalam, Chennai between June 2023 and December 2023. The case series included nine pregnant women aged between 21 - 31 years with varying obstetric histories. Most were multigravida with 60.0% having previous caesarean sections. Gestational age at diagnosis ranged from 17 - 35 weeks with one case diagnosed preconception. Mean hemoglobin levels before correction were 8.5 gm/dL, rising to 10.3 gm/dL post-correction. Hematological parameters varied within normal ranges. HPLC revealed heterozygous hemoglobinopathy E, beta thalassemia trait or sickle cell trait in equal proportions. Most deliveries occurred at term, with varying modes of delivery including emergency caesarean sections and vaginal deliveries. Incidence of postpartum hemorrhage and preterm premature rupture of membranes was infrequent, though one case of each occurred. No instances of pre-eclampsia, foetal growth restriction, or maternal or foetal deaths were reported. Neonatal outcomes were generally favorable, with all babies born alive, mostly at term, and satisfactory APGAR scores. Two cases were born with low birth weight. Early and accurate diagnosis facilitated tailored interventions, ultimately lead to positive maternal and neonatal outcomes. These cases serve as poignant reminders of the importance of comprehensive antenatal care, genetic counselling, and specialised management strategies for individuals affected by hemoglobinopathies.References:
[1]. Daigavane, M.
M., Jena, R. K., Kar, T. J., 2013. Perinatal outcome in sickle cell anemia: A
prospective study from India. Hemoglobin. 37(6), 507-15.
[2]. Modell, B.,
Darlison, M., 2008. Global epidemiology of hemoglobin disorders and derived
service indicators. Bull World Health Organ. 86(6), 480-7.
[3]. Balgir, R. S.,
2007. The burden of haemoglobinopathies in India and the challenges ahead. Current
Science. 79(11), 1536-47.
[4]. Priyadarsini, B., Mohapatra, K., Naik, M.,
Behuria, S., 2022. Antenatal screening for hemoglobinopathies with HPLC and
their fetomaternal outcome. International Journal of Health Sciences, 6(S9),
2958–2968.
[5]. Colah, R. B.,
Mukherjee, M. B., Martin, S., Ghosh, K., 2015. Sickle cell disease in tribal
populations in India. Indian J Med Res.141(5), 509-15.
[6]. Kohne, E.,
2011, Hemoglobinopathies: clinical manifestations, diagnosis, and treatment Dtsch
Arztebl Int. 108(31-32), 532-40.
[7]. Mondal, S. K.,
Mandal, S., 2016. Prevalence of thalassemia and hemoglobinopathy in eastern
India: A 10-year high-performance liquid chromatography study of 119,336 cases.
Asian J Transfus Sci. 10(1), 105-10.
[8]. Feng, C.,
Tsoi, W., 1995. A survey of pregnancies that ended in huemoglobin Burt's
hydrops foetulis and Cooley's unuemia. The Anthropologist. 6(1), 69-75.
[9]. Balgir, R.,
Dash, B., Murmu, B., 2004. Blood groups, hemoglobinopathy and G-6-PD deficiency
investigations among fifteen major scheduled tribes of Orissa, India. The
Anthropologist. 6(1), 69-75.
[10]. Api, O.,
Breyman, C., Çetiner, M., Demir, C., Ecder, T., 2015. Diagnosis and treatment
of iron deficiency anemia during pregnancy and the postpartum period: Iron
deficiency anemia working group consensus report. Turk J Obstet Gynecol.
12(3), 173-81.
[11]. Creary, M.,
Williamson, D., Kulkarni, R., 2007. Sickle cell disease: current activities,
public health implications, and future directions. Journal of Women's Health.
16(5), 575-82.
[12]. Jain, B. B.,
Roy, R. N., Ghosh, S., Ghosh, T., Banerjee, U., Bhattacharya, S. K., 2012.
Screening for thalassemia and other hemoglobinopathies in a tertiary care
hospital of West Bengal: Implications for population screening. Indian Journal
of Public Health. 56(4), 297-300.
[13]. Ghosh, N.,
Chakrabarti, I., Chakraborty, M., Goswami, B. K., 2013, A community based pilot
study on prevalence of hemoglobinopathies among the antenatal women in a rural
area of Darjeeling district, West Bengal. International Journal of Medicine
and Public Health. 3(2), 69-75.
[14]. Khera, R.,
Singh, T., Khuana, N., Gupta, N., Dubey, A. P., 2015, HPLC in characterization
of hemoglobin profile in thalassemia syndromes and hemoglobinopathies: a
clinicohematological correlation. Indian J Hematol Blood Transfus. 31(1),
110-5.
[15]. George, E.,
Jamal, A. R., Khalid, F., Osman, K. A., 2001, High performance liquid
chromatography (HPLC) as a screening tool for classical Beta-thalassaemia trait
in malaysia. Malays J Med Sci. 8(2), 40-6.
[16]. Rappaport, V.
J., Velazquez, M., Williams, K., 2004, Hemoglobinopathies in pregnancy. Obstet
Gynecol Clin North Am. 31(2), 287-317.
[17]. Mensah, C.,
Sheth, S., 2021, Optimal strategies for carrier screening and prenatal
diagnosis of α- and β-thalassemia. Hematology Am Soc Hematol Educ Program.
24(1), 607-13.
[18]. Nisenblat, V.,
Barak, S., Griness, O. B., Degani, S., Ohel, G., Gonen, R., 2006, Maternal
complications associated with multiple cesarean deliveries. Obstet Gynecol.
108(1), 21-6.
[19]. Atrash, H. K.,
Johnson, K., Adams, M., Cordero, J. F., 2006, Howse J. Preconception care for
improving perinatal outcomes: the time to act. Matern Child Health J. 10(5),
S3-11.
[20]. Cortés, B. A.,
2013, Anemia and transfusion of red blood cells. Colomb Med (Cali). 44(4),
236-42.
[21]. Ghosh, K.,
Colah, R., Manglani, M., Choudhry, V. P., Verma, I., Madan, N., et al., 2014,
Guidelines for screening, diagnosis and management of hemoglobinopathies. Indian
J Hum Genet. 20(2), 101-19.
[22]. Ai, S.,
Cliffe, C., Kidson, G. G., 2021, Antenatal haemoglobinopathy screening -
Experiences of a large Australian Centre. Obstet Med. 14(2), 89-94.
[23]. Kladny, B.,
Williams, A., Gupta, A., Gettig, E. A., Krishnamurti, L., 2011, Genetic
counseling following the detection of hemoglobinopathy trait on the newborn
screen is well received, improves knowledge, and relieves anxiety. Genetics
in Medicine. 13(7), 658-61.
[24]. Chauhan, A.,
Prasad, M., 2018, Outcome of Pregnancy with Hemoglobinopathy in a Tertiary Care
Centre. J Obstet Gynaecol India. 68(5), 394-9.
[25]. Hanprasertpong,
T., Kor-anantakul, O., Leetanaporn, R., Suntharasaj, T., Suwanrath, C.,
Pruksanusak, N., et al., 2013, Pregnancy outcomes amongst thalassemia traits. Arch
Gynecol Obstet. 288(5), 1051-4.
[26]. Wellenstein,
W. L., Sullivan, S., Darbinian, J., Ritterman, M. L., Greenberg, M., 2019,
Adverse pregnancy outcomes in women with sickle cell trait. AJP Rep. 9(4),
e346-e52.
[27]. Shanmugam,
R., Tharani, M., Abullais, S.S., 2024, Black seed assisted synthesis,
characterization, free radical scavenging, antimicrobial and anti-inflammatory
activity of iron oxide nanoparticles. BMC Complement Med Ther 24(24),
241. https://doi.org/10.1186/s12906-024-04552-9.
[28]. Habeeb
Rahuman H. B., Dhandapani R., Narayanan S., Palanivel V., Paramasivam R.,
Subbarayalu R., Thangavelu S., Muthupandian S., 2022, Medicinal plants mediated
the green synthesis of silver nanoparticles and their biomedical applications. IET
Nanobiotechnol. 16(4), 115-144. Doi: 10.1049/nbt2.12078.
[29]. Wadhwa, R.,
Paudel, K. R., Chin, L. H., Hon, C. M., Madheswaran, T., Gupta, G.,
Panneerselvam, J., Lakshmi, T., 2021, Anti-inflammatory
and anticancer activities of Naringenin-loaded liquid crystalline nanoparticles
in vitro. J Food Biochem. 45(1),
e13572. Doi: 10.1111/jfbc.13572.