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Hemoglobinopathy is included in newborn screening programs (Hemoglobin S/C Disease) in all 50 states and 3 territories.
Biomarker and diagnostic research for hemoglobinopathy has been reported in the published literature.
7 clinical trials registered, 6 recruiting. Interventions under study include drug therapy, biologic therapy, other interventions, and gene therapy. Pipeline includes 1 PHASE2, 2 PHASE1, 1 EARLY_PHASE1. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT04356469](https://clinicaltrials.gov/study/NCT04356469) |
Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 2:01 AM UTC
Genetic and Rare Diseases Info Center
TCR Alpha Beta T-cell Depleted Haploidentical HCT in the Treatment of Non-Malignant Hematological Disorders in Children |
PHASE2 |
Johns Hopkins All Children's Hospital |
RECRUITING |
[NCT03301168](https://clinicaltrials.gov/study/NCT03301168) | Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant | PHASE1 | Bellicum Pharmaceuticals | ACTIVE_NOT_RECRUITING |
[NCT07373639](https://clinicaltrials.gov/study/NCT07373639) | A Long-term Follow-up Study in Patients Who Received BEAM-101 | — | Beam Therapeutics Inc. | RECRUITING |
[NCT07206095](https://clinicaltrials.gov/study/NCT07206095) | Integrative Diagnosis for SCD and Other RADs | — | Hospital Universitari Vall d'Hebron Research Institute | RECRUITING |
[NCT07087262](https://clinicaltrials.gov/study/NCT07087262) | A Phase I Study of SNH-119014 in Healthy Volunteers | PHASE1 | ScinnoHub Pharmaceutical Co., Ltd. | RECRUITING |
291 publications have been identified in PubMed for hemoglobinopathy. Research spans Review / Meta-Analysis (43%), Epidemiology / Natural History (18%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 113 | 43% |
Disease patterns and progression | 48 | 18% |
Laboratory research | 33 | 13% |
Testing and diagnosis research | 26 | 10% |
Patient case studies | 20 | 8% |
New treatment approaches | 10 | 4% |
Clinical study results | 9 | 3% |
Other research | 2 | 1% |
Chiew XY (2026). [PMID: 41407292](https://pubmed.ncbi.nlm.nih.gov/41407292/). *Clin Transplant Res*. [Epidemiology / Natural History]
Waye JS (2026). [PMID: 42065900](https://pubmed.ncbi.nlm.nih.gov/42065900/). *Blood Adv*. [Other]
Jatal SM (2026). [PMID: 41939118](https://pubmed.ncbi.nlm.nih.gov/41939118/). *Ann Med Surg (Lond)*. [Case Report / Case Series]
Luo W (2026). [PMID: 41666682](https://pubmed.ncbi.nlm.nih.gov/41666682/). *Ann Diagn Pathol*. [Review / Meta-Analysis]
Joshi K (2026). [PMID: 42232018](https://pubmed.ncbi.nlm.nih.gov/42232018/). *Front Glob Womens Health*. [Epidemiology / Natural History]
Volodko N (2026). [PMID: 41558590](https://pubmed.ncbi.nlm.nih.gov/41558590/). *Clin Biochem*. [Case Report / Case Series]
Gómez-Martínez A (2026). [PMID: 41772811](https://pubmed.ncbi.nlm.nih.gov/41772811/). *Hemoglobin*. [Epidemiology / Natural History]
Othmani M (2026). [PMID: 41521211](https://pubmed.ncbi.nlm.nih.gov/41521211/). *Ann Hematol*. [Epidemiology / Natural History]
Li J (2026). [PMID: 41790270](https://pubmed.ncbi.nlm.nih.gov/41790270/). *Cell Mol Life Sci*. [Basic Science / Preclinical]
Foord E (2026). [PMID: 42100348](https://pubmed.ncbi.nlm.nih.gov/42100348/). *Front Genet*. [Review / Meta-Analysis]
AI-curated news mentioning hemoglobinopathy
Updated Mar 15, 2026
A new study reports the first Brazilian case of pediatric siblings diagnosed with Hb O-Arab and alpha-thalassemia, utilizing molecular methods for diagnosis. This research contributes to the understanding of rare hemoglobinopathies in Brazil.