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CASE REPORT
Year : 2020  |  Volume : 64  |  Issue : 1  |  Page : 93-95  

Sickle cell disease presenting in the third trimester of pregnancy: Delayed detection heralding a public health problem?


1 Senior Resident, Department of Pathology, Lady Hardinge Medical College, New Delhi, India
2 Assistant Professor, Department of Pathology, Lady Hardinge Medical College, New Delhi, India
3 Associate Professor, Department of Pathology, Lady Hardinge Medical College, New Delhi, India
4 Director Professor, Department of Pathology, Lady Hardinge Medical College, New Delhi, India

Date of Submission22-May-2019
Date of Decision14-Oct-2019
Date of Acceptance19-Feb-2020
Date of Web Publication16-Mar-2020

Correspondence Address:
Kavita Gaur
Department of Pathology, Lady Hardinge Medical College, Shaheed Bhagat Singh Marg, New Delhi - 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijph.IJPH_223_19

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   Abstract 


We report the case of a 22-year-old primigravida detected as having sickle cell disease (SCD), initially presenting in the third trimester (30th week) of pregnancy. The patient came to our center with a complaint of severe lower limb pain. The peripheral smear showed marked anisopoikilocytosis, numerous leptocytes, sickle cells, and target cells. High-performance liquid chromatography corroborated the diagnosis of SCD, showing a significant peak in the sickle window. The patient was conservatively managed and delivered a healthy baby through normal vaginal delivery. Delayed presentation of SCD in the third trimester of pregnancy is unusual. This report aims to bring attention to the possible causes of such a lag in detection. We also suggest measures to refine the antenatal healthcare screening at multiple levels, with regard to the detection of sickle cell hemoglobinopathy.

Keywords: Hemoglobinopathy, pregnancy, sickle cell disease


How to cite this article:
Sharma A, Gaur K, Tiwari VP, Shukla S. Sickle cell disease presenting in the third trimester of pregnancy: Delayed detection heralding a public health problem?. Indian J Public Health 2020;64:93-5

How to cite this URL:
Sharma A, Gaur K, Tiwari VP, Shukla S. Sickle cell disease presenting in the third trimester of pregnancy: Delayed detection heralding a public health problem?. Indian J Public Health [serial online] 2020 [cited 2020 Dec 2];64:93-5. Available from: https://www.ijph.in/text.asp?2020/64/1/93/280767




   Introduction Top


Sickle cell disease (SCD) is a hereditary hemoglobinopathy characterized by a point mutation in the beta-chain of the globin gene. This entity is prevalent in Africa, India, South and Central America, Saudi Arabia, and the Mediterranean.[1] A major public health problem in India, SCD mostly affects the populace of Chhattisgarh, Madhya Pradesh, and coastal states – Odisha, Maharashtra, Gujarat, Andhra Pradesh, Tamil Nadu, and Kerala.[2] The Anthropological Survey of India has estimated the frequency of sickle cell trait to be as high as 35% in some communities.[3]

SCD encompasses homozygous sickle cell anemia (SCA – HbSS) and heterozygous variants such as HbSA, commonly known as sickle cell trait, HbSC, and HbS-beta-thalassemia. Hypoxia or stress facilitates the polymerization of abnormal hemoglobin forming rheologically defective sickle-shaped red cells, prone to hemolysis, and causing occlusion of vascular beds. This results in a spectrum of varied clinical symptoms, including acute painful “crisis.”

Studies from India quote SCD to be a very uncommon cause of anemia in pregnancy.[4] Pregnancy in a patient with SCD is associated with high levels of maternal and fetal morbidity and mortality, with maternal and fetal death rates during pregnancy being reported as 11.4% and 20%, respectively.[5] We report a case presenting at our center, in the third trimester of pregnancy. Literature on cases of SCD presenting at such a late stage is extremely sparse. Through this report, we intend to highlight the importance of recognizing such cases early and also postulate the possible causes of delayed detection.


   Case Report Top


A 22-year-old primigravida (30 weeks' gestation) presented with the complaint of lower limb pain for 2 months. The pain was bilateral, symmetrical, afflicted both feet and was initially of a mild, dull-aching nature. The pain increased in intensity for the last 4 days, during which the patient developed low-grade fever (99.6°F). The patient was a resident of a village in Uttar Pradesh. No other significant present, past, or ethnic history was elicited. Barring pallor examination was unremarkable. Vitals were within normal limits. Investigation revealed severe anemia (Hb: 5.2 g/dL). Mean corpuscular volume was 72.4 fl, mean corpuscular hemoglobin (MCH) was 26.2 pg, and MCH concentration was 31.2 g/dl. Total leukocyte count was elevated (24,600 cells/cumm). The platelet count was within normal limits. Peripheral smear displayed marked anisopoikilocytosis with numerous microcytic hypochromic red blood cells, leptocytes, sickle cells, target cells, and few fragmented cells [Figure 1]a and [Figure 1]b. The corrected reticulocyte count was 2.4%. Sickling test showed the formation of “holly leaf” and classic sickle forms [Figure 1]c within 10 min of application of sodium metabisulfite. High-performance liquid chromatography (HPLC) showed a significant peak in the S (sickle) window (HbS: 91.2%, retention time: 4.36 min) [Figure 1]d. In view of microcytic hypochromic red cell indices, peripheral smear findings of both sickle cells and target cells, and HPLC findings, a diagnosis of SCD was offered. Family and genetic studies were advised to exclude double heterozygous sickle cell-beta thalassemia trait. Ultrasonogram abdomen revealed a small for gestational age fetus and a 13-mm calculus in the gallbladder. The spleen was normal in size (9.8 cm) and echotexture. Other biochemical investigations including urine examination and liver and renal function tests were unremarkable. The patient was conservatively managed on 24 h free-flow oxygen and intravenous antibiotics and fluids and was transfused two units of packed red cells. WBC count reduced to 12,200 cells/cumm, on instituting a regimen of intravenous ceftriaxone 1 g per day for 7 days and oral paracetamol 500 mg once a day for 5 days. The patient improved symptomatically within a week. However, the patient went into spontaneous labor 2 days later, and a pre-term, low birth weight baby (2.4 kg) was delivered at 31 weeks of gestation via an uneventful vaginal delivery. After delivery, the patient left against medical advice with her child compromising clinical care, diagnostic studies, and further counseling.
Figure 1: (a and b) Peripheral smear displaying marked anisopoikilocytosis, microcytic hypochromic red blood cells, leptocytes, sickle cells, target cells, and fragmented cells (a, Wright's stain, ×400; b, Leishman's stain, ×1000). (c) Sickling test showing the formation of “holly leaf” and classic sickle forms (×400). (d) High-performance liquid chromatography showing a significant peak in the S (sickle) window (HbS: 91.2%, retention time: 4.36 min).

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   Discussion Top


Delayed presentation of SCD in the third-trimester pregnancy is unusual as seen herein. A comprehensive literature search failed to reveal the exact prevalence of such cases in India or even globally.

Pregnancy in patients of SCD is fraught with challenges. Anemia and hypoxia affect fetal growth and placental perfusion causing intrauterine growth retardation. In addition, an increased risk of preeclampsia, eclampsia, preterm labor, low birth weight, and perinatal mortality has been documented.[6] Our patient went into preterm labor and delivered an underweight child.

Other complications include infections, gallstones, vaso-occlusive crisis, and acute chest syndrome.[7] This patient had a 13-mm gall stone which could be ascribed to chronic, undetected hemolysis. She presented in painful crisis a manifestation of microvascular bed occlusion which may have been exaggerated by vascular stasis seen in pregnancy. Although leukocytosis is normally a feature of pregnancy, it may be marked in sickle cell crisis as seen herein and may not represent actual infection;[8] this patient eventually responded to a regimen including antibiotics.

A recent study showed that social class, prenatal counseling, and early antenatal booking aid in achieving improved outcomes.[9] Our patient belonged to the lower socioeconomic strata was an illiterate, primigravida, not enrolled for antenatal care. These factors may have contributed to the lack of attention to health issues, despite considerable risk to the patient's health and that of her child.

The patient attributed the delay in taking medical opinion to not having any significant symptoms. Both homozygous SCA and HbS-beta-thalassemia trait are usually clinically symptomatic. We strongly suspect that out of ignorance, the patient may have overlooked her physical health. Second, in the absence of family and genetic studies, a definitive diagnosis within the SCD spectrum could not be made. The patient may have had a clinically milder hemoglobin variant eluting in the S-window.

It is noteworthy that despite 2 weeks of hospital care and counseling, the patient left for her village claiming difficulties to stay away from home. This jeopardized not only management of mother and child but also future counseling.


   Conclusion Top


A timely diagnosis of SCD in pregnancy is essential to prevent maternal and fetal complications. In the rural areas, this is only possible through robust antenatal healthcare delivery, stringent monitoring, and continuous educational programs. Point-of-care diagnostic systems must be incorporated in antenatal programs to facilitate earlier diagnosis and referral. This report highlights the importance of education and outreach in rural settings to root out deep-seated ignorance which may have catastrophic public health outcomes, if not addressed. Failure to do so may result in underdiagnosis of hemoglobinopathies, which require expert diagnostics and multidisciplinary care.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Williams TN, et al. Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis. Nat Commun 2010;1:104.  Back to cited text no. 1
    
2.
Colah RB, Mukherjee MB, Martin S, Ghosh K. Sickle cell disease in tribal populations in India. Indian J Med Res 2015;141:509-15.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
Rao VR. Genetics and epidemiology of sickle cell anemia in India. Indian J Med Sci 1988;42:218-22.  Back to cited text no. 3
    
4.
Kavitha B, Hota BH. Sickle cell disease complicating pregnancy: A retrospective study. J NTR Univ Health Sci 2017;6:242-6.  Back to cited text no. 4
  [Full text]  
5.
Boga C, Ozdogu H. Pregnancy and sickle cell disease: A review of the current literature. Crit Rev Oncol Hematol 2016;98:364-74.  Back to cited text no. 5
    
6.
Jain D, Atmapoojya P, Colah R, Lodha P. Sickle cell disease and pregnancy. Mediterr J Hematol Infect Dis 2019;11:e2019040.  Back to cited text no. 6
    
7.
Villers MS, Jamison MG, de Castro LM, James AH. Morbidity associated with sickle cell disease in pregnancy. Am J Obstet Gynecol 2008;199:125.e1-5.  Back to cited text no. 7
    
8.
Green-Top Guideline No 61: Management of Sickle Cell Disease in Pregnancy London: Royal College of Obstetricians and Gynecologists; 2011. Available from: http://www.rcog.org.uk/files/rcog-corp/GTG61_26082011pdf. [Last accessed on 2019 Nov 06].  Back to cited text no. 8
    
9.
Villers MS, Jamison MG, De Castro LM, James AH. Morbidity associated with sickle cell disease in pregnancy. Am J Obstet Gynecol 2008;199:125.e1-5.  Back to cited text no. 9
    


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