FREQUENCY OF HFE GENE MUTATION IN IRON OVERLOAD PATIENTS

Abstract

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.