Abstract
Background: Thalassemiais one ofthe most commoninherited single-gene disorder in the world. Every year approximately 100,000 thalassemia major children are born all over the world, and there are about 65, 000-67,000β thalassemia major patients in India, with around 9,000-10,000 cases being added every year. Measurement of serum ferritin level can give idea regarding starting of Iron chelation therapy, which will reduce the concentration of serum ferritin and effective in preventing iron induced tissue injury and prolonging life expectancy. Method: This study was conducted on 60 children between 3 to 17 years, being regularly transfused at department of Pediatrics, Kamala Raja Hospital, Gajra Raja Medical College, Gwalior, for period of 1 year from 2011 to 2012, after taking the informed consent from the parents and explaining them the purpose of study. Detailed history weretaken and serum ferritin level weremeasured by ELIS Abased serum ferritin assay kit. Results: Serum ferritin level was found to be elevated in all the patients of betathalassemiamajorwithrange from 1050 to 5029 µg/l and with a mean value of 3879µg/l. Out of 60 patients, 30 (50%) patients had serum ferritin level below 2000μg/l,20 (33.3%) patients had serum ferritin value between 2001 to 4000 μg/l and rest 10 (17.7%) patients had values above 4000 μg/l. Mean value of serum ferritin was found to be higher in patients who received frequent blood transfusion. Conclusion: Majority of the patients had very high ferritin levels, with a mean value of 3879 µg/l. 50% patients had serum ferritin levels more than 2000μg/l. This cut off value reflect either inadequate chelation therapy or non-affordability of parents to purchase oral chelation therapy.
Highlights
Thalassemia is one ofthe most common inherited single-gene disorder in the world
Manuscript received: 28th May 2018 Reviewed: 6th June 2018 Author Corrected: 14th June 2018 Accepted for Publication: 20th June 2018 globin chains owing to inherited mutations of β- globin genes, where more than 200 mutations, mostly point mutations are seen in β thalassemia
This study included 60 patients suffering from beta thalassemia major, with 11 (18.3%) females and 49 (81.7%) males
Summary
Thalassemia is one ofthe most common inherited single-gene disorder in the world. Reportedly there are about 240 million carriers of beta thalassemia world wide and in India alone, the number is approximately 30 million with a mean prevalence of 3.3%. The name Thalassemia is derived from a combination of two Greek words: Thalassa meaning the sea, i.e. the Mediterranean, and anemia (“weak blood”)[3]. Results: Serum ferritin level was found to be elevated in all the patients of beta thalassemia major with range from 1050 to 5029 μg/l and with a mean value of 3879μg/l. Mean value of serum ferritin was found to be higher in patients who received frequent blood transfusion. Conclusion: Majority of the patients had very high ferritin levels, with a mean value of 3879 μg/l. 50% patients had serum ferritin levels more than 2000μg/l This cut off value reflect either inadequate chelation therapy or non-affordability of parents to purchase oral chelation therapy
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More From: Pediatric Review: International Journal of Pediatric Research
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