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Updated: Oct 7, 2025
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Newborn Screening and Clinical Profile of Children With Sickle Cell Disease in a Tribal Area of Gujarat
Kapilkumar Dave1, Shrey Desai2, Yazdi Italia3
1SEWA Rural, Jhagadia, Gujarat. Correspondence to: Dr Kapilkumar Dave, Research Associate, SEWA Rural, Jhagadia, Gujarat. kapil.dave8@gmail.com.
Insights
Newborn sickle cell disease (SCD) screening in Gujarat found a 3.5% prevalence. Most affected infants also had alpha-thalassemia deletion and experienced significant clinical complications.
Area of Science:
- Medical Genetics
- Pediatric Hematology
- Public Health
Background:
- Sickle cell disease (SCD) is a significant global health concern, particularly in regions with high carrier frequencies.
- Newborn screening is crucial for early diagnosis and intervention in SCD.
- Tribal populations often face unique healthcare challenges and may have distinct genetic profiles.
Purpose of the Study:
- To determine the prevalence of sickle cell disease (SCD) in newborns from a tribal area in Gujarat.
- To describe the clinical profile and co-occurrence of alpha-thalassemia deletion in these newborns.
- To evaluate the effectiveness of a hospital-based comprehensive care platform for SCD management.
Main Methods:
- Prospective screening of 2492 newborns using high-performance liquid chromatography (HPLC) for SCD.
- Testing for alpha-thalassemia deletion in a subset of SCD newborns.
- Prospective follow-up of SCD neonates every 3 months, with home visits by counsellors for missed appointments.
Main Results:
- A prevalence of 3.5% (87/2492) for SCD was identified.
- High co-occurrence of alpha-thalassemia deletion (95.4%) was observed in the SCD cohort.
- Significant rates of clinical complications including acute febrile illness (42.9/100 person-years) and painful crises (14.9/100 person-years) were recorded.
Conclusions:
- Newborns in this tribal Gujarat area exhibit a high prevalence of SCD and a notable co-occurrence of alpha-thalassemia deletion.
- A substantial proportion (70%) of infants with SCD experienced at least one clinical complication within the follow-up period.
- The findings underscore the importance of targeted newborn screening and comprehensive care programs for SCD in vulnerable populations.
Objective:
To present the result of newborn sickle cell disease (SCD) screening and clinical profile of SCD newborns in a tribal area of Gujarat.
Methods:
We screened all newborns of sickle cell trait (SCT) and SCD mothers for SCD using high-performance liquid chromatography (HPLC) within two days of birth at a secondary care hospital in a tribal area in Gujarat from 2014 to 2019. Newborns with SCD were registered under an information technology based platform for hospital-based comprehensive care. Neonates were followed prospectively every 3 months. If they missed the clinic visit, a medical counsellor visited them at home to collect the required information.
Results:
Out of 2492 newborns screened, 87 (3.5%) were diagnosed with SCD. Among the 67 newborns screened for alpha-thalassemia deletion, 64 (95.4%) of babies had alpha-thalassemia deletion. We recorded total 554 clinic visits over the period of 221.5 person-years. The rates of acute febrile illness, painful crisis, hospitalization and severe anemia were 42.9, 14.9, 14.9 and 4.5 per 100 person-year, respectively. Two deaths were recorded, and 5 babies (5.7%) had severe SCD.
Conclusion:
We found a high prevalence of alpha thalassemia deletion among newborn SCD cohort in tribal area of Gujarat, and 70% babies had atleast one clinical complication on follow-up.
