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The detection of hemoglobinopathy variants by single-molecular long read sequencing: a multi-center study

The detection of hemoglobinopathy variants by single-molecular long read sequencing: a multi-center study

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600125218
Enrollment
Unknown
Registered
2026-05-22
Start date
2025-06-06
Completion date
Unknown
Last updated
2026-05-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Thalassemia

Interventions

Gold Standard:thalassemia genetic mutation testing:Gap-polymerase chain reaction (Gap-PCR), Dideoxy chain termination sequencing (Sanger sequencing) and so on Complete blood count and hemoglobin elect
Index test:single-molecule long-read sequencing

Sponsors

The First People's Hospital of Yunnan Province
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1. Pregnant women and their spouses who had a clinical need for thalassemia genetic screening at the participating hospitals and who applied for this clinical testing service. 2. Individuals who underwent single-molecule testing for thalassemia and provided informed consent for the research study. 3. Gestational age <= 22 weeks.

Exclusion criteria

Exclusion criteria: 1. Refuse to sign informed consent form. 2. Gestational age > 22 weeks .

Design outcomes

Primary

MeasureTime frame
Sensitivity;Specificity;Agreement rate;Accuracy rate;—

Countries

China

Contacts

Public ContactBaosheng Zhu

The First People's Hospital of Yunnan Province

bszhu@aliyun.com+86 871 6363 8383

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: May 30, 2026