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Research on Sphingolipid Metabolism Disorders and Thalassemia

Research on Sphingolipid Metabolism Disorders and Thalassemia

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2600120705
Enrollment
Unknown
Registered
2026-03-18
Start date
2026-03-31
Completion date
Unknown
Last updated
2026-03-23

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

Conditions

Thalassemia

Interventions

Normal Control Group:None
Alpha Thalassemia Gene Carrier Group:None
Beta Thalassemia Gene Carrier Group:None
Non-Transfusion Dependent Thalassemia Group:None
Transfusion Dependent Thalassemia Group:None

Sponsors

The Affiliated Hospital of Guilin Medical University
Lead Sponsor

Eligibility

Sex/Gender
All
Age
No minimum to 30 Years

Inclusion criteria

Inclusion criteria: 1.Refinement of thalassemia gene mutation assays for definitive diagnosis in patients aged 0-30 years. 2.No underlying conditions were identified in other organ systems apart from thalassemia. 3.Patients who are informed and consent to participate in this study. 4.The control group consisted of healthy individuals without underlying conditions such as thalassemia, malignancies, infections, or lipid metabolism disorders.

Exclusion criteria

Exclusion criteria: 1.Presence of comorbidities other than thalassemia and its complications, such as infections, malignancies, inherited metabolic disorders, and autoimmune diseases; 2.Coexistence of other conditions that cause anemia apart from thalassemia; 3.History of blood transfusion within the past three months; 4.Patients or their legal guardians who decline to participate in the study;

Design outcomes

Primary

MeasureTime frame
Demographic and anthropometric data (sex, age, height, weight);Clinical manifestations (anemia symptoms, jaundice, hepatosplenomegaly, skeletal changes, growth and development status, comorbidities);Laboratory and imaging assessments (thalassemia gene mutation detection, hemoglobin level, MCV, MCH, MCHC, RDW, absolute reticulocyte count, serum ferritin, red blood cell osmotic fragility test, liver and cardiac T2* MRI, liver and spleen ultrasound);Treatment regimen (no treatment, oral chelation therapy use, number of transfusions, etc.);Lipid metabolomics profiling data;

Countries

China

Contacts

Public ContactZhu Chunjian

The Affiliated Hospital of Guilin Medical University

1460352785@qq.com+86 773 2827824

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Apr 3, 2026