ABSTRACT
BACKGROUND AND STUDY AIMS: Host genetic modifiers of the risk and persistence of hepatitis B virus (HBV) infection in the Pakistani population have not been clearly elucidated. Recently, two genome-wide association studies described that STAT4 and IFNL3 variants are associated with different aspects of the course of HBV infection. However, the roles of these variants in the persistence of HBV infection have not been investigated in the HBV-infected population of Pakistan. Therefore, we examined the roles of the STAT4 and IFNL3 variants in a chronic HBV-infected population from the Khyber Pakhtunkhwa (KPK) region of Pakistan. PATIENTS AND METHODS: STAT4 rs7574865 and IFNL3 rs12979860 genotyping were performed in 297 subjects (240 infected with HBV and 57 controls). Statistical analyses were performed using the chi-squared test, Student's t-test, Hardy-Weinberg equilibrium tests and logistic regression models. RESULTS: Among the 297 subjects, compared with the IFNL3 rs12979860 genotype [odds ratio (OR) = 0.7, 95% confidence interval (CI) = 0.39-1.29, p = 0.2), the STAT4 rs7574865 genotype was independently associated with the risk of developing chronic HBV infection [OR = 1.9, 95% CI = 1.09-3.50, p = 0.02]. CONCLUSION: The STAT4 rs7574865 and not the IFNL3 rs12979860 variant is associated with persistence of HBV infection in a Pakistani population from the KPK region.
Subject(s)
Carcinoma, Hepatocellular , Hepatitis B, Chronic , Hepatitis B , Interferons/genetics , Liver Neoplasms , STAT4 Transcription Factor/genetics , Carcinoma, Hepatocellular/epidemiology , Carcinoma, Hepatocellular/pathology , Carcinoma, Hepatocellular/prevention & control , Female , Genetic Predisposition to Disease , Genetic Variation , Hepatitis B/diagnosis , Hepatitis B/epidemiology , Hepatitis B/genetics , Hepatitis B/virology , Hepatitis B virus/isolation & purification , Hepatitis B virus/physiology , Hepatitis B, Chronic/diagnosis , Hepatitis B, Chronic/epidemiology , Hepatitis B, Chronic/genetics , Hepatitis B, Chronic/virology , Humans , Liver Neoplasms/epidemiology , Liver Neoplasms/pathology , Liver Neoplasms/prevention & control , Male , Middle Aged , Pakistan/epidemiology , Polymorphism, Single NucleotideABSTRACT
OBJECTIVE: To identify the co-existence of iron deficiency and iron overload in individuals with beta thalassaemia trait. METHODS: The cross-sectional study was conducted at Rehman Medical Institute and Khyber Medical University, Peshawar, Pakistan, September 1, 2015, to December 31, 2017, and comprised individuals with hypochromic microcytic blood picture. Haemoglobin electrophoresis was performed on their blood samples. Serum ferritin levels of subjects with Haemoglobin Subunit Alpha 2 levels between 3.5% and 7% were checked. Data were analysed using analysed using GraphPad Prism v6. RESULTS: Of the 292 subjects, 159(54.5%) were males and 133(45.5%) were females. Of these, 240 (82.2%) were anaemic and 52 (17.8%) had haemoglobin within the normal range. Serum ferritin level of 55(18.8%) subjects was low and 207(70.9%) were iron-replete. Notably, 30(10.3%) subjects had serum ferritin levels higher than the reference range, and this was more common among adults (p<0.001). CONCLUSIONS: Ferritin levels in beta thalassaemia trait can be low, normal or higher than the normal values..
Subject(s)
Anemia, Iron-Deficiency , Iron Overload , beta-Thalassemia , Adolescent , Adult , Anemia, Iron-Deficiency/blood , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/epidemiology , Child , Child, Preschool , Cross-Sectional Studies , Female , Ferritins/blood , Humans , Infant , Iron Overload/blood , Iron Overload/complications , Iron Overload/epidemiology , Male , Pakistan , Young Adult , beta-Thalassemia/complications , beta-Thalassemia/epidemiologyABSTRACT
BACKGROUND: Beta-Thalassaemia syndromes are a group of hereditary disorders characterised by a genetic deficiency in the synthesis of beta-globin chains due to a defect in beta-globin genes. The objective of this study was to determine the haematological features of beta-thalassaemia trait (BTT). and to determine the sensitivity of Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH) and Mentzer Index (ML) as a screening tool for beta-thalassaemia trait. METHODS: A descriptive study was conducted in Hayatabad Medical Complex, Peshawar from May 2009 to May 2010 with 203 subjects having BTT. Blood samples were collected in EDTA anti-coagulated tubes. RBC indices were taken as part of complete blood count (CBC) by haematology analyser, and Haemoglobin (Hb) electrophoresis was done to determine the HbA2 percentage. The data was collected and analysed on statistical software for demographic details, RBC indices and HbA2 levels. RESULTS: Out of 203 patients, 92 (45%) were males and 111 (55%) were females. Most patients tested were in the 15-45 year age group. One-hundred-sixty (79%) patients had anaemia. MCV was lower than 76 fl in all the cases. Mean MCV was 59.1 fl. MCH was low, the mean MCH being 19.3 g/dl. MCH < 26 gave sensitivity of 99% in detecting BTT. We calculated MI for these cases and found out that it was < 12 in 75% of cases and < 15 in 197 (97%). CONCLUSION: Beta-thalassaemia traits present with a microcytic hypochromic blood picture, detected on simple haematology analysers as low MCV and MCH and MI which provide a useful screening tool for beta-thalassaemia trait.
