Betts · Clinical therapeutics 2020 · systematic literature review · n=135 studies

Systematic Literature Review of the Burden of Disease and Treatment for Transfusion-dependent β-Thalassemia.

Cited 111 times in the scientific literature.

Level 3 - non-randomized controlled study

Systematic review of observational and clinical practice studies

PubMed 31882227 · doi:10.1016/j.clinthera.2019.12.003 · record verified 2026-08-28

What was done

A systematic literature review searched MEDLINE, EMBASE, and five conference websites for clinical practice studies published since January 2007 in France, Germany, Greece, Italy, the United Kingdom, and the United States. The review assessed disease management, iron burden, complications, and outcomes in patients with transfusion-dependent β-thalassemia (TDT) receiving long-term transfusion regimens.

What was found

A total of 135 articles met inclusion criteria. Among patients with two β-thalassemia mutations, 64%–89% received transfusions every 2 to 4 weeks. Across reporting studies, median liver iron concentration was 8.5 mg/g dry weight (IQR 4.5–11.0; 42 studies), cardiac T2* MRI was 27.4 ms (IQR 26.0–30.2; 25 studies), and serum ferritin was 1465.0 ng/mL (IQR 1238.2–1797.0; 73 studies). Adverse transfusion reactions affected ~50% and alloimmunization affected 10%–20% of patients. Heart failure was diagnosed in ~10% of patients (range 2.9%–20.9% across 6 studies). Other reported burdens included pain (25%–69%), psychiatric disorders (25%–30%), reduced health-related quality of life, and persistent risk of early mortality.

Why it matters

This review establishes a contemporary baseline of clinical complications and health-related quality-of-life deficits in transfusion-dependent β-thalassemia against which novel therapies can be evaluated.

Limits

The review was restricted to six high-income countries, limiting generalizability to low- and middle-income regions where the disease burden is highest. High heterogeneity among observational study designs precluded uniform meta-analysis, and total patient sample size was not reported in the abstract.

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