Objective <p>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).</p> Methods <p>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).</p> Results <p>Out of 26,642 neonates screened, 1.87% (<i>n</i> = 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.</p> Conclusion <p>Intensive screening programs have led to detection of a large number of cases with hemoglobinopathies including rare hemoglobin variants.</p>

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Screening for Hemoglobinopathies: An Inceptive Experience of Centre of Excellence for Sickle Cell Disease

  • Anita Vishnoi,
  • Ritvika Jyani,
  • Ayushi Sharma,
  • Lakhan Poswal,
  • Shuchi Goyal,
  • Shelesh Kumar Swami,
  • Nitesh Kumar Chauhan

摘要

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.