Unstable Hemoglobin Disease: Systematic Literature Review Dataset and Standardised Data Extraction Template

This repository contains the structured patient-level dataset and standardised data extraction template developed for a systematic literature review of unstable hemoglobin disease conducted within the framework of the HELIOS COST Action (CA22119). The systematic review identified 189 publications published between 1969 and 2025, yielding 293 patient-level records representing 299 patients from 42 countries. The evidence consisted predominantly of case reports and case series, with one cohort study. The dataset systematically captures published evidence on the molecular, hematological and clinical characteristics of unstable hemoglobin variants, including diagnostic investigations, clinical manifestations, disease complications, therapeutic interventions and patient outcomes. The extracted information supports the characterisation of phenotypic variability, diagnostic approaches and management practices in unstable hemoglobin disease. The repository includes: Completed data extraction dataset: Structured information extracted from the publications included in the systematic review, organised according to the predefined extraction framework. Standardised data extraction template: A reusable Excel-based framework containing predefined variables, column headers and standardised response options for molecular diagnosis, clinical diagnosis and clinical management. The resources are provided to support transparency, reproducibility and secondary analysis of the published evidence, as well as to facilitate future systematic reviews and evidence synthesis in unstable hemoglobin disease and related rare hematological disorders. The dataset represents information extracted from previously published clinical reports. The geographic distribution and frequency of reported clinical characteristics reflect the available literature and should not be interpreted as estimates of disease prevalence.