DEMOGRAPHIC AND CLINICAL PROFILE OF THALASSEMIC PATIENTS: A RETROSPECTIVE STUDY

Abstract

The clinical, demographic, and genetic risk factors linked to transfusion-dependent beta-thalassemia in a Pakistani cohort were examined in this retrospective case-control study.  In October 2024 and January 2025, 100 patients and 100 age- and gender-matched healthy controls were surveyed.  SPSS v27 was used for statistical analysis, which included multivariate logistic regression, chi-square, and t-tests.  Compared to controls, thalassemia patients were significantly younger (mean age 11.87 vs. 22.24 years, p<0.0001) and had lower BMI, height, and weight (p<0.0001).  The associations between thalassemia and consanguinity (58% vs. 16%) and family history (94% vs. 22%) were significant (p<0.00001). Consanguinity (OR=2.12), age (OR=1.24), low height (OR=0.75), and family history (OR=7.54) were all found to be independent risk factors by regression analysis.  Clinically, 64% received a diagnosis prior to the age of six; 67% had splenomegaly, and 72% had iron overload.  The serum ferritin levels of older patients were significantly higher (1580.7 ng/ml vs. 1300.5 ng/ml, p=0.014).  Younger patients needed more frequent transfusions, while older patients were more likely to receive iron chelation therapy (OR=3.12).  According to the findings, the transmission and severity of disease are influenced by genetic inheritance, especially in consanguineous marriage.