Diagnosis and management of telomere biology disorders in developing countries
Practical care pathways for rare blood and lung diseases now reach resource-limited settings, addressing a critical diagnostic gap affecting millions globally.
This clinical review provides resource-stratified care pathways for telomere biology disorders (dyskeratosis congenita, aplastic anemia, pulmonary fibrosis spectrum) in LMICs, emphasizing serial CBC monitoring, clinical red flags, and accessible telomere length assessment methods. It addresses a critical gap: TBDs are underdiagnosed in developing countries where most confirmatory tests are unavailable, and this review provides actionable guidance for hematologists in these settings.
What the study was
- Study design
- Narrative/clinical review
- Population
- Patients with telomere biology disorders (TBDs) in low- and middle-income countries
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- Seminars in Hematology
Why it surfaced
Semin Hematol review addressing severe diagnostic gap in TBDs in LMICs. Rare hematologic disease + underserved population + serial CBC as core diagnostic tool. Three watchlist topic matches. Scored 6.
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