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ORIGINAL ARTICLE Table of Contents   
Year : 2008  |  Volume : 1  |  Issue : 1  |  Page : 1-4
Sickle cell disease: Experience of a tertiary care center in a nonendemic area


1 Department of Pediatrics,Vardhman Mahavir Medical College and Safdarjung Hospital, Delhi - 110 029, India
2 Department of Hematology, Vardhman Mahavir Medical College and Safdarjung Hospital, Delhi - 110 029, India

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   Abstract 

Sickle cell disease is an genetically transmitted hemo-globinopathy. It is prevalent in many parts of India, where the prevalence has ranged from 9.4-22.2% in endemic areas. There is paucity of data with respect to its prevalence and manifestations in the non endemic areas of India. The present study attempts to evaluate varied manifestations of sickle cell disease in a tertiary care center in north India, which is a non-endemic belt. It was observed that 18% of the patients in the study to be the local inhabitants of Delhi- a nonendemic belt. Also this region had the largest percentage of the mixed cases particularly associated with beta thallesemia. A high index of suspicion is therefore required for the diagnosis of such cases in a nonendemic area like Delhi specifically in patients who presented with unexplained anemia and splenomegaly with or without pain abdomen. Various crises reported in sickle cell disease is not a common manifestation especially in a nonendemic belt in our experience.

Keywords: Nonendemic area, Sickel cell disease, Anemia.

How to cite this article:
Awasthy N, Aggarwal K C, Goyal P C, Prasad M S, Saluja S, Sharma M. Sickle cell disease: Experience of a tertiary care center in a nonendemic area. Ann Trop Med Public Health 2008;1:1-4

How to cite this URL:
Awasthy N, Aggarwal K C, Goyal P C, Prasad M S, Saluja S, Sharma M. Sickle cell disease: Experience of a tertiary care center in a nonendemic area. Ann Trop Med Public Health [serial online] 2008 [cited 2014 Aug 22];1:1-4. Available from: http://www.atmph.org/text.asp?2008/1/1/1/43069
Sickle cell disease (SCD) is an autosomal recessive genetically transmitted hemoglobinopathy with wide prevalence. This is first described by Heerick in 1910 in adults and subsequently by Sydensticker in children. The distribution of SCD is determined by the occurrence of the sickle cell mutation and its selection by falciparum malaria. [1] It is prevalent in many parts of India, where the prevalence has ranged from 9.4 to 22.2% in endemic areas. [2] Clinical manifestations of this disease are extremely varied and are influenced by different variants such as hemoglobin concentration, pH, various genetic and environmental factors, infection, and age. Not many studies on SCD have been done in India from a nonendemic belt in the past. Therefore, the present study is an attempt in this direction. The present study attempts to evaluate varied manifestations of SCD in a tertiary care center in north India, which is a nonendemic belt.


   Materials and Methods Top


The study was conducted at a tertiary care center in Safdarjang Hospital, in the Department of Pediatrics and Department of Hematology. This was a retrospective study, which included all the patients either admitted in Pediatrics ward, or those who attended Pediatrics OPD and were investigated subsequently through Hematology Department. Diagnosed cases of sickle cell anemia over a period of 2 years from March 2002 to February 2004 were included in the present study. These comprised of children from 0 to 19 years of age, of these 12-19 years were the cases who were under follow-up of the Hematology Department were also included. The data of these children were analyzed in terms of their clinical presentation, viz. presenting symptoms and clinical examination and hematological profile which included the hemogram (Hb, TLC, DLC, platelet count, and peripheral blood film morphology). Sickling and Hb electrophoresis was also done. Hb electrophoresis was done on cellulose acetate membrane and patients classified into homozygous (HbSS) and heterozygous (HbAS) type. [3] Zygosity of the cases and family tree study were also carried out.


   Results Top


A total of 28 subjects were admitted as the case of SCD in the pediatric wards. SCD was found to be of equal frequency in males and females with male-to-female ratio being 1:1.1 [Table 1]. Most of the cases in the tertiary center were found to be those of the migrant population. Regional split included from Bihar (10), National capital region - Delhi (5), Orissa (3), Maharastra (2), Haryana (2), Kerala (2), Gujarat (2), Andhra (1), and Madhya Pradesh (1). Of the total 28 cases, six cases were found to have (HbSS trait, 17 were found to be HbAS while others included those associated with other hemoglobinopathies, viz., beta thal, etc., constituting five in total. Males constituted five of the six HbSS cases (83%) while they constituted five of the 17 HbAS cases (30%). Most of the children were in the age group 4-12 years (50%).

Swelling was the commonest presenting symptom (75%), followed by fever (20) and pain abdomen (8). Manifestations of severe anemia formed an important presentation requiring hospitalization seen in 24 of the admitted patients. Other presentations included associated giddiness (4), chest pain (3), bony pains and jaundice (2), malena (2), and respiratory tract infections (1) [Table 2]. All the cases of HbSS presented with a joint swelling while it was seen in 53% of the HbAS.

Pallor formed the most important sign seen in 85.7% [Table 3] of these children. Joint swelling formed a predominant manifestation seen in 60.7%. Spleen was palpable in 60.7% of the population and was generally enlarged up to 3-4 cm below costal margin. Hepatomegaly was seen in 28.6% of the subjects. On evaluation of the hematological parameters, hemoglobin of <8 g/dL was seen in 75% of the children, while 28.6% presented with a high total leucocytic counts, while platelet count was found to be low only in one subject.Sickling test was observed to be positive in all the cases. None of the patients presented with cerebro vascular accident (CVA) or acute sequestration


   Discussion Top


SCD constitutes amongst the commonest of the hemoglobinopathies, reported from the Indian subcontinent with varied incidence. Our data reflect maximum cases reported from Bihar (35%). This reflects catchment area of our institution. Although the cases do include those from the high prevalence zones in India, their number does not reflect the incidence in these regions on account of the selection bias of the cases. This is evident on correlating with the national regional prevalence as reported by Rao et al. [4] [Table 4]. Besides a small sample size in our case although serves as an indicator, a larger population-based study is required to evaluate the true incidence of the disease.

SCD was found to be comparable in male and female unlike those reported from the studies from central India. [5] This could be on account of the influence of the migrant population and the selection bias. SCD being an autosomal recessive genetic disorder, one of the most important preventive measures is to prevent inbreeding in the patients of sickle cell trait.

The clinical manifestations in a case of SCD are extremely variable and varying in spectrum from an asymptomatic individual to severe painful episodes. Painful crisis was the first symptom in one-fourth of the patients and the most frequent symptom after the age of 2 years in the Jamaican experience. [6] Even in our study, it was the most common symptom observed. Joint pain seen in 17 of the subjects constituted the commonest presenting symptom particularly in the HbSS cases. Pain abdomen observed in eight subjects, mostly in the HbAS subjects. These episodes varied widely in patients probably influenced by the underlying precipitating cause like infection, changes in climate, physiological factors, etc. Impact of these factors could not be elucidated in our part of the population and requires further studies, although many have reported no precipitating cause in few other regions.

Besides the above acute complications, the other manifestations of SCD include the chronic organ damage affecting different systems such as cardiovascular, renal system, hepatobiliary, eyes, ears, skeletal, lungs, central nervous system (CNS), growth and development, and psychologic aspects. [7]

Joint pain was observed in most children after the age of 4 years, with 53% of the cases presenting between 4 and 12 years of life. Fever was observed in 20 (71%) of the subjects. None of the subjects in our study was found to have CNS involvement or priaprism. However, further long-term follow-up is required to look for these complications. Crisis was not observed to be reason of presentation to our tertiary care center in a nonendemic zone while features of anemia with its varied clinical manifestations formed the reason for the bulk of the cases presenting to us. Similarly, none of the cases presenting to us had any cutaneous changes although cases need to be followed up as these develop generally in later age group. Hearing deficits described in about 12% of the cases in various studies or ocular changes such as retinopathy, angiod streaks, hyphema, or conjuctival changes were not observed in our study. Though cardiomegaly was observed in three subjects associated with severe anemia on X-ray chest, but no cardiovascular anomaly or myocardial dysfunction was observed on echocardiography. This may reflect the effect of chronic anemia in these cases, all of which were more than 12 years of age. Dactylitis was observed in one of the cases presenting to us in a 4-year-old male child with severe anemia, in congestive heart failure (CHF). Lesion resolved without sequelae in a period of 8 weeks. No other bone abnormality was observed, viz., avasular necrosis, widening of the medullary cavity, or vertebral lesions. Although detailed and prospective studies need to be conducted to conjure their true incidence as most of these cases may be asymptomatic.

None of the deaths during the study period was attributed to SCD or was observed in these patients. Three of the four deaths in a study from central India - endemic zone occurred below 5 year of age. A Jamaican study reported the greatest number of deaths during the first 5 years and maximum in the first year. [8] They also reported 9.5% deaths due to sequestration crisis. An acute sequestration crisis is one of the leading causes of death in sickle cell anemia. This is a prominently seen in children with homozygous trait who have not undergone autosplenectomy, older patients with SCD or s-b thalessemia disease. Amongst the six patients who had sequestration crisis, two patients expired, thus confirming more deaths during first episode of acute splenic sequestration in a study from central India [5] while incidence of deaths during the first episode of sequestration crisis has been reported earlier to be 6% [7] and 12%. [9],[10] None of our patients presented with sequestration crisis. Lack of sequestration crisis can account for lower mortality in our study.

Though the national capital region is having a lot of migratory population, but we have found that 18% of the patients in the study to be the local inhabitants of Delhi - a nonendemic belt. Delhi and national capital region had the largest percentage of the cases associated with beta thalassemia in our study. A high index of suspicion is, therefore, required for the diagnosis of such cases in a nonendemic area like Delhi specifically in patients who presented with unexplained anemia and splenomegaly with or without pain abdomen. Various crisis reported in SCD is not a common manifestation especially in a nonendemic belt in our experience.

 
   References Top

1.Wiesenfeld SL. Sickle cell trait in human biological and cultural evolution: Development of agriculture causing increased malaria is bound to gene-pool changes causing malaria reduction. Science 1967;157:1134-40.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]
2.Shukla RM, Solanki BR. Sickle cell trait in central India. Lancet 1985;1:297-8.  Back to cited text no. 2    
3.Kate SL, Bankar MP. Cellulose acetate membrane electrophoresis. Simple rapid and inexpensive method for detection of hemoglobin variants. Indian J Physical Anthropol Gen 1976;2:123-8.  Back to cited text no. 3    
4.Rao VR. Prevalence of Sickling in Different States of India. New Delhi, Department of Science and Technology, Technical Report Health: Drinking Water and Management of Genetic Diseases, 1991.  Back to cited text no. 4    
5.Kamble M, Chatruvedi P. Epidemiology of sickle cell disease in a rural hospital of central India. Indian Pediatr 2000;37:391-6.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Bainbridge R, Higas DR, Maude GH, Sergeant GR. Clinical presentation of homozygous sickle cell disease. J Pediatr 1985;106:881-5.  Back to cited text no. 6    
7.Dover JG, Platt SO. Sickle cell disease. Hematology of infancy and childhood. 5 th ed. In: Nathan DG, Orkin SH, editors. Philadelphia: WB Saunders Company; 1998. p. 762-809.  Back to cited text no. 7    
8.Thomas JM, Pattision C, Sergeant GR. Cause of death in sickle cell disease in Jamaica. BMJ 1982;285:633-5.  Back to cited text no. 8    
9.Topley JM, Rogers BW, Stevens MC, Sergeant GR. Acute splenic sequestration in homozygous sickle cell disease. Arch Dis Child 1981;56:765-9.  Back to cited text no. 9    
10.Amon AM, Collis R, Darvil D, Higas DR, Mavde BA, Sargeant GR. Acute splenic sequestration in homozygous sickle cell disease: Natural history and management. J Pediatr 1985;107:201-6.  Back to cited text no. 10    

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Correspondence Address:
K C Aggarwal
Department of Pediatrics, VMM College and S. J. Hospital, Delhi - 110 029
India
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DOI: 10.4103/1755-6783.43069

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    Tables

  [Table 1], [Table 2], [Table 3], [Table 4]

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