Detection of Thalassaemia Carriers by Automated Feature Extraction of Dried Blood Drops

2019/05/24 by Manikuntala Mukhopadhyay, M. Mukhopadhyay, Mukhopadhyay, Manikuntala +13
Biochemistry, Genetics and Molecular Biology · Medicine · #FOS: Biological sciences #Hemoglobinopathies and Related Disorders #Quantitative Methods (q-bio.QM) #q-bio.QM

paper · pdf · doi:10.48550/arxiv.1905.10253

arxiv created 2019/05/24 · openalex publication_date 2019/05/24 · arxiv updated 2019/05/27 · openalex created_date 2019/05/29 · openalex updated_date 2026/07/28

Abstract

Thalassaemia, triggered by defects in the globin genes, is one of the most common monogenic diseases. The beta-thalassaemia carrier state is clinically asymptomatic, thus, making it onerous to diagnose. The current gold standard technique is implausible to be used for onsite carrier detection as the method necessitates expensive instruments, skilled manpower and time. In this study, we have tried to classify the carriers from the healthy samples based on their blood droplet drying patterns using image analysis based tools and subsequently develop an in-house program for automated classification of the same. This automatic, rapid, less laborious and cost-effective technique will significantly increase the total number of carriers that are screened for thalassaemia per year in the country, thus, reducing the burden in the state run advanced health facilities.

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