Introduction and objective: Fatty acids (FAs) influence cell and tissue metabolism, function, responsiveness to hormonal and other signals in addition to maintenance of membrane integrity of cells. β-Thalassemia is a prevalent inherited blood disorder characterized by abnormal red cell membrane structure and function. Induction of HbF by hydroxyurea (HU) is an enduring therapeutic intervention to manage this. Therefore, in the present study we have carried out the quantification of thirteen free fatty acids to disclose the prognosis of HU in β-thalassemia.
Methods: FAs quantification was carried out using GC-MRM-MS method in the serum of 98 cases of β-thalassemia patients and out of which samples from 34 patients were collected before and after treatment with HU in addition to healthy controls (n = 31).
Results: Using the combination of random forest (RF) with GC-MRM-MS we were able to establish a classification and prediction model that can discriminate the β-thalassemia from healthy as well as from HU treated group. Docosanoic acid (C-22:0) was most significantly altered in β-thalassemia as compared to healthy at p-value of 8.3 × 10-09 while erucic acid (C-22:1 Δcis-13) can be used as potential marker of HU prognosis because its level became significantly dissimilar at p-value of 3.7 × 10-04 in same patients in response to HU. However, nervonic acid (C-24:1 Δcis-15) was found to be the key player in effectively separating three groups.
Conclusion: In inference, we have noticed that HU therapy also rectifies the serum fatty acid profile in addition to its reported affect i.e. HbF induction in β-thalassemia patients.
Keywords: Fatty acids; GC–MRM–MS; Hydroxyurea; β-Thalassemia.