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Showing 2 results for Beta-Thalassemia
The cut-off values of discriminator indices for screening of beta-thalassemia trait
Aradhana Harrison , Aswathy Prabha , Karishma Krishna , Vejay Viknesh Marudhadurai , Jahnavi Chikkegowda, Rajshree Choudhary ,
Volume 18, Issue 5 (9-2024)
Abstract
Background: β-thalassemia trait (BTT) can be screened by several discriminator indices (DIs) using complete blood counts (CBC). These DIs can help differentiate BTT from other causes of anaemia, thus reducing the financial burden of laboratory testing. At standard cut-off values, statistical analyses traditionally used to compare the diagnostic competence of these DIs give variable results. This study establishes new optimal cut-off values to improve the applicability of these DIs for BTT screening.
Methods: This was a retrospective study conducted on anaemic adults whose high-performance liquid chromatography (HPLC) and CBC results achieved over the past 6 months were reviewed. Based on HPLC reports, patients were categorised into BTT and non-BTT groups, with each group comprising 25 age- and sex-matched patients. Discriminator indices, including Mentzer’s Index (MI), Green and King Index (GKI), Sehgal Index (SI), Shine and Lal Index (SLI), Srivastava Index (SrI), and England and Fraser Index (EFI), were calculated for both groups. Statistical analysis was performed respective to standard cut-off values to establish new optimal cut-off values with the highest sensitivity and specificity.
Results: According to the results, SrI emerged as the best index, offering high sensitivity, specificity, Youden’s Index, accuracy, and odds ratio. On the other side, SLI and GKI were observed to be poor indices with low sensitivity and specificity. The new optimal cut-off values for the best performance of each DI for BTT screening were as follows: SrI ≤3.5, MI ≤11.4, GKI ≤59.7, SI ≤709.4, SLI ≤941.1, and EFI ≤1.91.
Conclusion: The performance of DIs at standard cut-off values was poor to screen BTT. New optimal cut-off values provided maximal sensitivity and specificity thereby enhancing their performance as screening parameters for BTT in regions with a high-prevalence of the condition. Further studies are warranted to substantiate the new cut-off values for BTT screening.
 

Chromatographic insights into hemoglobinopathies: Spectrum analysis by high-performance liquid chromatography in a western Indian tertiary care hospital
Parineeta Shelke , Preeti Doshi , Amit Nisal , Abdulrahaman Momin , Ravindra Nimbargi ,
Volume 19, Issue 2 (3-2025)
Abstract
Background: Hemoglobinopathies are a group of inherited disorders characterized by abnormal hemoglobin structure or synthesis, primarily classified into thalassemia syndromes and structural hemoglobin variants. Recognized as a global health priority, these disorders necessitate accurate diagnostic approaches. High-performance liquid chromatography (HPLC) has emerged as a reliable method for their detection. This study aimed to analyze the spectrum of hemoglobinopathies using HPLC in a population from Western Maharashtra, India.
Methods: A cross-sectional study was conducted at Bharati Vidyapeeth (DTU) Medical College, Pune, over three years. A total of 1,455 specimens from individuals of both genders were analyzed using the VARIANT™ II β-Thalassemia Short Program based on ion-exchange chromatography. Hematological parameters were assessed for all subjects, and the prevalence of hemoglobinopathies, along with their subtypes, was documented.
Results: The mean age of the study population was 26.91 ± 7.06 years, with a female predominance. The overall incidence of hemoglobinopathies was 8.78%, with β-thalassemia minor being the most prevalent, followed by β-thalassemia major, Hb S trait, and Hb S disease. Rare variants included two cases of Hb D Punjab heterozygosity and one case of Hb E heterozygosity. The Mentzer index exhibited a positive correlation with Hb F and mean corpuscular hemoglobin (MCH) and a negative correlation with hemoglobin levels, Hb A, and red cell distribution width (RDW-C).
Conclusion: The study revealed an 8.78% prevalence of hemoglobinopathies in the region, with β-thalassemia trait (Heterozygous) being the most common. Notably, co-inheritance of Hb E with β-thalassemia exacerbated anemia severity. These findings underscore the importance of HPLC-based screening for early diagnosis and management of hemoglobinopathies in high-risk populations.
 

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