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β-Thalassemia heterozygote state detrimentally affects health expectation

      Highlights

      • β-Thalassemia heterozygote state detrimentally affects health expectation.
      • Risk of hospitalizations for cholelithiasis, cirrhosis, mood disorders, and kidney diseases
      • Increased risk for complications in Thalassemia minor subjects
      • Increased morbiduty in heterozygotes for beta-thalassemia
      • Impaired morbidity in Thalassemia minor

      Abstract

      Background

      Thalassemia minor (Tm) individuals, are generally considered healthy. However, the prognosis of Tm individuals has not been extensively studied.
      The aim of this study was to evaluate the prognosis of Tm versus controls without β-thalassemia carrier state.

      Methods

      A total of 26,006 individuals seeking thalassemia screening at the AOOR Villa Sofia-V. Cervello, Palermo (Italy) were retrospectively studied. Logistic penalised regression model was used to estimate risk of potential complications and survival techniques were used to study mortality.

      Results

      We identified a total of 4943 Tm and 21,063 controls. Tm was associated with significantly higher risks of hospitalisation for cirrhosis (OR 1·94, 95% CI 1·30 to 2·90, p = 0·001), kidney disorders (OR 2·11, 95% CI 1·27 to 3·51, p = 0·004), cholelithiatis (OR 1·39, 95% CI 1·08 to 1·79, p = 0·010), and mood disorders (OR 2·08, 95% CI 1·15 to 3·75, p = 0·015). No statistically difference in life expectancy between thalassemia minor and control group was found (HR 1·090, 95% CI 0·777 to 1·555, p < 0·590; log-rank test p = .426).

      Conclusion

      This study shows that Tm affects the prognosis of Tm carriers regarding health expectation. Probably, iron overload and anaemia for several years may be at the basis of these effects.

      Keywords

      Abbreviations:

      AIC (Akaike Information Criterion), CVD (Cardio-vascular disease), DHSEO (Department Health Services and Epidemiological Observatory), Hb (haemoglobulin), HDRS (Hamilton Depression Rating scores), Hosp (hospitalization), ICD-9-CM (International Classification of Diseases 9th revision), IQR (Interquartile range), LIC (liver iron concentration), LPRM (Logistic penalised regression model), OR (Odds ratio), TI (Thalassemia Intermedia), TM (Thalassemia major), Tm (Thalassemia minor)
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