BMC Public Health. 2026 Jun 4. doi: 10.1186/s12889-026-28028-2. Online ahead of print.
ABSTRACT
BACKGROUND: Inherited hemoglobinopathies, particularly sickle cell disease (SCD) and thalassemia, represent a major public health burden in Saudi Arabia. However, comprehensive nationwide real-world data have historically been fragmented across healthcare facilities. This study describes the development, governance framework, and epidemiological characterization of the Saudi National Inherited Hemoglobin and Blood Disorders (IHBD) Registry and reports population-level patterns derived from unified Ministry of Health (MOH) data integration.
METHODS: A nationwide registry infrastructure was established under the MOH using phased implementation: retrospective manual digitization of historical records (2016-2018), followed by phased automated electronic medical record (EMR) integration implemented between 2019 and 2025. Between 2019 and 2025, 166,727 IHBD-related diagnostic entries were extracted from 31 MOH-affiliated hospitals. Two different data sources were leveraged. For all records, 3-year retrospective data were entered, and prospective data were utilized moving forward in the IHBD registry. Records were consolidated using national identification numbers to generate a de-duplicated patient-level dataset. Descriptive statistics summarized demographic and geographic distributions. IHBD Registry coverage per 100,000 population was calculated using the 2024 Saudi census estimate. Associations between disease groups and geographic regions were evaluated using chi-square testing.
RESULTS: After deduplication, 105,008 unique patients with inherited blood disorders were identified, corresponding to approximately 298 patients per 100,000 population in the IHBD Registry. The registry captured 105,008 unique diagnosed patients (surveillance coverage), of whom 65,679 (62.6%) had fully structured, longitudinally validated records within the registry module. SCD represented the predominant subgroup. Geographic clustering was observed, with the Eastern (32.0%), Makkah (28.1%), and Riyadh (19.1%) regions accounting for the majority of registered cases. Approximately 32.6% of patients had multiple IHBD-related diagnoses, reflecting overlapping hemoglobinopathy and bleeding disorder classifications within the healthcare system.
CONCLUSIONS: The IHBD Registry provides the first unified, nationwide MOH-based dataset for inherited hemoglobinopathies, enabling population-level surveillance and regional burden assessment. By integrating phased data consolidation and EMR interoperability, the registry establishes a scalable national infrastructure for rare hematologic disease monitoring. These findings support evidence-based resource allocation, regional health planning, and future expansion toward integrated screening, longitudinal outcome tracking, and advanced analytic applications.
PMID:42243779 | DOI:10.1186/s12889-026-28028-2
