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Updated: Jul 26, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Indirect determination of hemoglobin A2 reference intervals in Pakistani infants using data mining.
Muhammad Shariq Shaikh1, Sibtain Ahmed2, Saba Farrukh3
1Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Stadium Road, Karachi, 74800, Pakistan. muhammad.shariq@aku.edu.
This study establishes new Hemoglobin A2 reference intervals for infants in Pakistan using data mining. These findings improve diagnostic accuracy for hemoglobinopathies in resource-limited settings.
Area of Science:
- Clinical Chemistry
- Hematology
- Pediatric Diagnostics
Background:
- Reference intervals (RIs) are essential for disease diagnosis and vary by age.
- Hemoglobinopathies are prevalent in Pakistan, necessitating accurate hemoglobin variant quantification.
- Establishing local RIs for infants is challenging, particularly for Hemoglobin A2.
Purpose of the Study:
- To establish Hemoglobin A2 reference intervals for infants in Pakistan.
- To address the lack of local RIs for pediatric hemoglobinopathies.
- To improve diagnostic accuracy for hemoglobinopathies using an indirect data mining approach.
Main Methods:
- Retrospective observational study analyzing 88,690 Hemoglobin A2 measurements from infants (birth to 1 year).
- Utilized an indirect KOSMIC algorithm on routine laboratory data from Aga Khan University Hospital.
- Hemoglobin A2 was measured using the Bio-Rad Variant™ II analyzer.
Main Results:
- Calculated RIs for 22,713 infants across five age sub-groups.
- The derived RIs demonstrated good agreement with established international RIs (Mayo Clinic Laboratories).
- Identified age-specific fluctuations in Hemoglobin A2 synthesis.
Conclusions:
- Data mining is a viable method for establishing RIs in resource-limited settings.
- The new Hemoglobin A2 RIs enhance clinical decision-making for Pakistani infants.
- Results are specific to the population, instrument, and reagents used.
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