Biochemical assessment of renal function and its correlation with iron overloading in different variants of thalassemia

Thalassemia is a hereditary disorder characterised by changes in organ function and iron overload resulting from multiple blood transfusions, inefficient erythropoiesis, and increased gastrointestinal iron absorption. This study aimed to compare and correlate renal function tests with blood transfusion frequency, annual blood requirement, and ferritin levels in patients with Thalassemia Major, Intermedia, and Minor. Fifty blood samples were collected from each clinically diagnosed patient with thalassemia major, intermedia, and minor at MGM Hospital in Navi Mumbai for complete blood count estimates, serum ferritin, and renal function tests. The frequency of blood transfusions and the annual blood requirement was recorded. The Pearson correlation coefficient was used to examine the relationship. SPSS Software was used to tabulate and process patient data. A p-value of less than 0.001 was regarded as significant. This study included both male (64) and female (84) participants. The major, intermedia, and minor serum ferritin levels were 2212.5 ug/L, 1643 ug/L, and 53.55 ug/L, respectively. Serum creatinine and sodium levels in thalassemia major (27.41 ± 5.31umol/L, 128.02± 4.56 mmol/L, respectively)  and intermedia (36.25 ± 6.19 umol/L, 128.96± 4.39 mmol/L respectively) decreased as the frequency of transfusion and serum ferritin level increased. Uric acid levels (361.64 ± 64.83 umol/L) were higher in patients with thalassemia intermedia. Transfusion therapy, required for Major and Intermedia, increases iron overload, which harms organ function and quality of life. Early detection and genetic counselling are necessary for proper thalassemia management.

Correlation of Health-Related Quality of Life and Factors Affecting among Different Age Groups in Transfusion-Dependent Thalassaemia Patients- A Cross-Sectional Study

Introduction: Health-Related Quality of Life (HRQoL) aims to measure a person’s views on the impact of their disease. Children suffering from thalassaemia require frequent blood transfusions throughout their lives because of impaired Haemoglobin (Hb). This may necessitate them to stay in the hospital for a longer transfusion day. School, physical activities, competencies, and family stability are all compromised in some way. Assessing HRQoL in individuals with thalassaemia and identifying variables that contribute to low quality of life is crucial. Aim: To correlate HRQoL and factors affecting among different age groups in transfusion-dependent thalassaemia patients. Materials and Methods: A cross-sectional study was conducted at MGM College and Hospital, Navi Mumbai from October 2020 to August 2021, 70 thalassaemia patients aged 8-25 years registered for regular blood transfusions were included in the study and divided into three age groups: Group-I (8-12 years) n=25, II (13-17 years) n=24, and III (18-25 years) n=21. The study was approved by Institutional Ethics Committee. Paediatric Quality of Life (PedsQLTM) 4.0 generic core scale questionnaire was used to assess patients’ HRQoL. This questionnaire has 2 parallel reports: child self-reports and parent proxy reports and assess HRQoL across four dimensions: physical, emotional, school, and social functioning. Anthropometric and demographic parameters considered are height, weight and age. Pretransfusion Hb and ferritin levels, Cardiac iron overload, age of first transfusion, frequency of transfusion, annual blood requirement were collected and correlated with HRQoL scores. One-way ANOVA, unpaired student’s t-test and Pearson’s correlation were applied for statistical analysis and p-value less than 0.05 was considered significant. Results: Comparison of total mean score of child’s self-report between three age groups showed significant difference (p=0.001). In Group-I, the lowest score was for physical functioning (41.9±18) and significantly correlated with pretransfusion Hb, annual blood requirement, and age of first transfusion. In Group-II, the lowest score was for school functioning (54±18) and significantly correlated with pretransfusion Hb, annual blood requirement, cardiac iron loading, and Age of first transfusion. In Group-III, the lowest score was for school functioning (50.9±12) and significantly correlated with pretransfusion Hb, ferritin level, age of first transfusion, annual blood requirement, and frequency of transfusion. Conclusion: The HRQoL scores of thalassaemia patients was low in parent’s report as compared to children’s report in all four dimensions in all three groups. The predominant factors affecting are pretransfusion Hb level, Annual blood requirement, and age of the first transfusion