Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India

Abstract

BackgroundSickle cell disease (SCD) is a major health burden in India. The objective of the study was to establish a neonatal screening program and to understand the clinical course of children with SCD in central India.Methods and FindingsPregnant mothers were screened for sickle hemoglobin using the solubility test. Babies were screened by high performance liquid chromatography if the mother was positive for sickle hemoglobin. The diagnosis was confirmed by molecular analysis. They received early prophylactic treatment and vaccination. Of 2134 newborns screened, 104 were sickle homozygous (SS), seven had sickle β-thalassemia (S-β thal) and 978 were sickle heterozygous (AS). The other hemoglobin abnormalities detected included HbS -δβ thalassemia-1, HbSD disease-2, HbE traits-5, β-thalassemia traits-4, alpha chain variants-3 and HbH disease-1.These babies were followed up regularly for hematological and clinical evaluation. Pain, severe anemia requiring blood transfusions and acute febrile illness were the major complications with 59.7, 45.1 and 42.6 cases per 100 person years. Fetal hemoglobin (HbF) levels were inversely associated with vaso-oclussive crisis (VOC) and severe anemia while presence of alpha thalassemia increased the rate of painful events and sepsis. Six early deaths occurred among the SS babies.ConclusionA systematic follow up of this first newborn SCD cohort in central India showed that 47% of babies presented within 1 year of age. In spite of the presence of the Arab-Indian haplotype many babies had severe manifestations.

Clinical and haematological profile of children with sickle cell anaemia admitted to a rural medical college of Chhattisgarh, India

“…There was statistically significant association between high HbF level and less number of painful crises requiring hospitalizations. This was similar to the findings by Upadhye et al 11 They have found high level of HbF was inversely associated with vasoocclusive crises and episodes of severe anaemia. But in the present study, there was no significant difference in the requirement of blood transfusion between these two groups.…”

“…Mean HbF level of SCD cohort at GMC Nagpur diagnosed by neonatal screening and followed up for 3-4 years was 21.4±5.4%. 11 Study done by Rao et al in children between 5-15 years at south Gujarat have found mean HbF level 12.2±7. 12 In the present study population children with high HbF level also suffered from painful crises episodes and they had also severe anaemia requiring blood transfusion.…”

Attrition from Care and Clinical Outcomes in a Cohort of Sickle Cell Disease Patients in a Tribal Area of Western India

“…In children, sickle-shaped red blood cells often become trapped in the spleen, leading to a serious risk of death before the age of seven years from a sudden profound anemia or due to an overwhelming infection [1]. Thus, SCD remains an important contributor of childhood mortality and premature death in adult population [2][3][4]. SCD is more common among tribal communities than the general population [5,6].…”

Initial outcomes of a comprehensive care model for sickle cell disease among a tribal population in rural western India

“…7 Several studies have found severe disease manifestations in 20-50% of Indian SCD populations, the majority presenting with severe anemia, acute febrile illnesses, and frequent vaso-occlusive crises. [8][9][10] Several simple, cost-effective interventions have dramatically reduced morbidity and mortality from sickle cell disease in developed countries, including: early diagnosis by neonatal screening, preventive care with prophylactic penicillin and pneumococcal vaccination, and regular follow-up and treatment with transfusion and hydroxyurea for severe cases. [11][12][13][14] These interventions proven to improve SCD outcomes have not been wellstudied in Indian populations.…”