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Updated: May 6, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease
Anita Vishnoi1, Ritvika Jyani1, Ayushi Sharma2
1Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, 313001, India.
Insights
This study screened newborns, antenatal women, and children for hemoglobinopathies. Intensive screening programs detected a significant number of hemoglobin variants, including rare ones.
Area of Science:
- Hematology
- Genetics
- Public Health
Background:
- Hemoglobinopathies are inherited blood disorders affecting hemoglobin.
- Early detection and management are crucial for improving patient outcomes.
- Prevalence varies significantly across different populations.
Purpose of the Study:
- To determine the prevalence of hemoglobinopathies in newborns, antenatal women, and children with sickle cell disease (SCD) symptoms.
- To assess the effectiveness of screening programs in identifying these conditions.
Main Methods:
- A hospital-based prospective study was conducted at a Centre of Excellence for SCD.
- Dried blood spot (DBS) and venous samples were collected for hemoglobin variant analysis.
- High-performance liquid chromatography (HPLC) was used for hemoglobin variant detection.
Main Results:
- Out of 26,642 neonates screened, 1.87% showed abnormal hemoglobin patterns.
- Hemoglobin variants were detected in 6.11% of antenatal women and 22.69% of symptomatic children.
- The study identified a substantial number of hemoglobinopathies, including rare variants.
Conclusions:
- Intensive screening programs are effective in detecting a wide range of hemoglobinopathies.
- These programs facilitate early identification of individuals with these genetic blood disorders.
- Findings highlight the importance of continued screening for hemoglobinopathies in diverse populations.
Objective:
To estimate the prevalence of various hemoglobinopathies among newborns, women in antenatal clinic and children presenting with signs and symptoms suggestive of sickle cell disease (SCD).
Methods:
A hospital-based prospective study was conducted at a Centre of Excellence for SCD (COESCD). Dried blood spot (DBS) samples were collected for newborn screening using heel-prick and venous samples were used in the post-neonatal age group. Hemoglobin variant analysis was performed using high-performance liquid chromatography (HPLC).
Results:
Out of 26,642 neonates screened, 1.87% (n = 498) were found to have abnormal hemoglobin patterns. The prevalence of hemoglobin variants detected among women screened during antenatal check-up and children with signs and symptoms of SCD were found to be 6.11% and 22.69%, respectively.
Conclusion:
Intensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.
