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Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh.

ABSTRACT: Patients with beta-thalassemia major (BTM) suffer from fatigue, poor physical fitness, muscle weakness, lethargy, and cardiac complications which are related to an energy crisis. Carnitine and acylcarnitine derivatives play important roles in fatty acid oxidation, and deregulation of carnitine and acylcarnitine metabolism may lead to an energy crisis. The present study aimed to investigate carnitine and acylcarnitine metabolites to gain an insight into the pathophysiology of BTM. Dried blood spots of 45 patients with BTM and 96 age-matched healthy controls were analyzed for free carnitine and 24 acylcarnitines by using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Although medium chain acylcarnitine levels were similar in the patients with BTM and healthy controls, free carnitine, short chain acylcarnitines, long chain acylcarnitines, and total acylcarnitine levels were significantly lower in patients with BTM than in the healthy controls (P?

SUBMITTER: Kumar Sarker S

PROVIDER: S-EPMC6057484 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh.

Kumar Sarker Suprovath S Islam Md Tarikul MT Sarower Bhuyan Golam G Sultana Nusrat N Begum Mst Noorjahan MN Al Mahmud-Un-Nabi Mohammad M Al Noman Howladar Md Abdulla MA Farhana Dipta Tashmim T Muraduzzaman A K M AKM Kashfi Qadri Syeda S Shirin Tahmina T Sadiya Salma S Hussain Manzoor M Ahmed Khan Waqar W Akhteruzzaman Sharif S Saleheen Qadri Syed S Qadri Firdausi F Mannoor Kaiissar K

Journal of advanced research 20180425

Patients with beta-thalassemia major (BTM) suffer from fatigue, poor physical fitness, muscle weakness, lethargy, and cardiac complications which are related to an energy crisis. Carnitine and acylcarnitine derivatives play important roles in fatty acid oxidation, and deregulation of carnitine and acylcarnitine metabolism may lead to an energy crisis. The present study aimed to investigate carnitine and acylcarnitine metabolites to gain an insight into the pathophysiology of BTM. Dried blood spo ...[more]

PMID: 30046479

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Project description:IntroductionHypoparathyroidism is a rare complication of iron overload in patients with transfusion dependent β thalassemia major (β-TM). We aim to determine the prevalence of parathyroid dysfunction in patients with β-TM.MethodsDiagnosed cases of transfusion dependent β-TM between 5 and 17 years of age were recruited from outpatient clinics of a non-profit organization in Karachi, Pakistan. Blood and urine samples were collected in fasting to determine Ca, P, Alb, Mg, Cr 25OHD and iPTH. Patients were grouped on the basis of upper and lower levels of Ca, 25OHD and iPTH for assessing parathyroid dysfunction into primary hypoparathyroidism [low calcium (Ca) & intact parathyroid hormone (iPTH)], sub-clinical hypoparathyroidism [low iPTH and 25 hydroxy vitamin D (25OHD), low/normal Ca], normal functioning parathyroid gland [Normal Ca, iPTH and 25OHD] and secondary hyperparathyroidism [high iPTH, low/normal Ca and/or 25OHD]. Using PTH nomogram subject specific expected PTH (maxPTH) was calculated. Difference between maxPTH and measured iPTH was determined to assess the utility of nomogram in identifying parathyroid gland dysfunction. The statistical analysis was performed using the Statistical Package of Social Sciences (SPSS) version 20.ResultsMedian age of patients was 11 years (13-7) with males being 54.2% (n = 205).Based on Ca, 25OHD and iPTH, primary hypoparathyroidism was identified in 3.4% (n = 13) [median iPTH 11.3 pg/ml (12.6-7)], 52.3% (n = 192) had subclinical hypoparathyroidism [iPTH 40.4 pg/ml (52.7-28.7)], and 34% (n = 125) were identified as secondary hyperparathyroidism [iPTH 88.6 pg/ml (116-74.7)]. Normal response to Ca & 25OHD was seen in 10.6% (n = 39) [iPTH 44.2 pg/ml (53.8-33.4)] patients. High phosphorous was present in all groups. Difference between maxPTH & iPTH was highest in primary hypoparathyroidism, followed by subclinical and secondary hyperparathyroidism.ConclusionNomogram by Harvey et al. identify low secretion capacity of parathyroid gland that correlated with biochemical classification of patients. It requires clinical validation before using in clinical practice for assessing parathyroid dysfunction.

Dataset Information

Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh.

Publications

Impaired acylcarnitine profile in transfusion-dependent beta-thalassemia major patients in Bangladesh.

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