FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS

Objective: To determine the frequency of HFE gene mutation in iron overload patients. Study Design: Cross sectional study. Place and Duration of Study: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP), from Feb 2017 to Jan 2018. Patients and Met...

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Autores principales:	Dr. Noreen, Tariq Bin Sharif, Naveed Asif, Hamza Akhtar, Dr. Quratulain, Waqas Hanif
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2019
Materias:	c282y mutation ferritin hemochromatosis hfe gene Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/3b1eec574f694775ae8cd25550c14db6
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spelling	oai:doaj.org-article:3b1eec574f694775ae8cd25550c14db62021-11-12T03:04:50ZFREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS0030-96482411-8842https://doaj.org/article/3b1eec574f694775ae8cd25550c14db62019-06-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/3023/2261https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: To determine the frequency of HFE gene mutation in iron overload patients. Study Design: Cross sectional study. Place and Duration of Study: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP), from Feb 2017 to Jan 2018. Patients and Methods: Sampling technique use was non-probability consecutive sampling, patients who reported in AFIP were selected. Data was collected from 196 participants, of 20 to 60 years of age and both genders. Therefore 43 participant individuals, were included who were presented with transferrin saturation >45% or either serum ferritin >1000 ng/mL. Serum ferritin was analyzed by Immulite 2000, serum iron and serum total iron binding capacity were analyzed by Random access ADVIA®1800 to calculate %TS by Total Iron/TIBC×100, C-Reactive Protein (CRP) was measured by BT® 1500. DNA was extracted by using Puregene® Blood Core kit. Results: Forty-three patients sample was analyzed that showed increased serum ferritin, transferrin saturation (%TS). Mean age of study participants was 42.16 ± 11.18 years. Out of 43 patients there were 38 (88.4%) males and 5 (11.6%) were females. Frequency of serum ferritin >1000 ng/mL was 35 (74.5%), <1000ng/mL was 8 (17%) as well as transferrin saturation <45 was 11 (23.4%) and >45 was 32 (68.1%). Consanguinity was reported 34 (79.1%). Only a single 33 years old patient was reported with C282Y mutation in our study samples. Conclusion: C282Y homozygosity should be suspected in patients showing biochemically elevated levels of %TS and serum Ferritin.Dr. NoreenTariq Bin SharifNaveed AsifHamza AkhtarDr. QuratulainWaqas HanifArmy Medical College Rawalpindiarticlec282y mutationferritinhemochromatosishfe geneMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 69, Iss 3, Pp 540-544 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	c282y mutation ferritin hemochromatosis hfe gene Medicine R Medicine (General) R5-920
spellingShingle	c282y mutation ferritin hemochromatosis hfe gene Medicine R Medicine (General) R5-920 Dr. Noreen Tariq Bin Sharif Naveed Asif Hamza Akhtar Dr. Quratulain Waqas Hanif FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
description	Objective: To determine the frequency of HFE gene mutation in iron overload patients. Study Design: Cross sectional study. Place and Duration of Study: Department of Chemical Pathology and Endocrinology, Armed Forces Institute of Pathology (AFIP), from Feb 2017 to Jan 2018. Patients and Methods: Sampling technique use was non-probability consecutive sampling, patients who reported in AFIP were selected. Data was collected from 196 participants, of 20 to 60 years of age and both genders. Therefore 43 participant individuals, were included who were presented with transferrin saturation >45% or either serum ferritin >1000 ng/mL. Serum ferritin was analyzed by Immulite 2000, serum iron and serum total iron binding capacity were analyzed by Random access ADVIA®1800 to calculate %TS by Total Iron/TIBC×100, C-Reactive Protein (CRP) was measured by BT® 1500. DNA was extracted by using Puregene® Blood Core kit. Results: Forty-three patients sample was analyzed that showed increased serum ferritin, transferrin saturation (%TS). Mean age of study participants was 42.16 ± 11.18 years. Out of 43 patients there were 38 (88.4%) males and 5 (11.6%) were females. Frequency of serum ferritin >1000 ng/mL was 35 (74.5%), <1000ng/mL was 8 (17%) as well as transferrin saturation <45 was 11 (23.4%) and >45 was 32 (68.1%). Consanguinity was reported 34 (79.1%). Only a single 33 years old patient was reported with C282Y mutation in our study samples. Conclusion: C282Y homozygosity should be suspected in patients showing biochemically elevated levels of %TS and serum Ferritin.
format	article
author	Dr. Noreen Tariq Bin Sharif Naveed Asif Hamza Akhtar Dr. Quratulain Waqas Hanif
author_facet	Dr. Noreen Tariq Bin Sharif Naveed Asif Hamza Akhtar Dr. Quratulain Waqas Hanif
author_sort	Dr. Noreen
title	FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
title_short	FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
title_full	FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
title_fullStr	FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
title_full_unstemmed	FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS
title_sort	frequency of hfe gene mutation in iron overload patients
publisher	Army Medical College Rawalpindi
publishDate	2019
url	https://doaj.org/article/3b1eec574f694775ae8cd25550c14db6
work_keys_str_mv	AT drnoreen frequencyofhfegenemutationinironoverloadpatients AT tariqbinsharif frequencyofhfegenemutationinironoverloadpatients AT naveedasif frequencyofhfegenemutationinironoverloadpatients AT hamzaakhtar frequencyofhfegenemutationinironoverloadpatients AT drquratulain frequencyofhfegenemutationinironoverloadpatients AT waqashanif frequencyofhfegenemutationinironoverloadpatients
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FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS

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