重要的地貧科研項目 Project List

1. Iron chelation

Purchase of Ambulatory infusion pump for intensified iron chelation
Oral Chelation Project by University of Hong Kong
Oral Chelator Project
Comparison of Subcutaneous Infusion Sets for Thalassaemia Patients
Follow-on project on the use of L1, the oral chelator
Effect of Different Clinically Used Chelators (DFO & L1) on the Growth of Bacteria Commonly Found in Local Thalassaemia Major Patients
The Use of Deferasirox (Exjade) by Protocol-driven Iron Chelation which Targets at Near-Normal Body Iron Status in terms of Serum Ferritin and MRI T2* Measurements
Use of low dose deferasirox in transfusion-dependent thalassaemia patients after hematopoietic stem cell transplantation
Iron chelation therapy in non-transfusioin dependent thalassaemia patients

Iron chelation

2. Assessment of iron overload

MR screening for iron overload in Thalassaemia patients
Imaging iron stores in the brain using susceptibility-weighted MR imaging (SWI) in patients with β-thalassaemia major (TM) and correlation with cognitive function.
MRI study for iron overload in thalassaemia intermedia patients and thalassaemia major patients after hematopoietic stem cell transplantation
Thalassaemia major: a new MRI method for monitoring heart and liver iron deposition
Circulating Microparticles as Surrogate Markers of Iron Induced Organ Damage in Beta-Thalassaemic Patients
Ex vivo study of dendritic cell functions under iron overload conditions in thalassaemia patients
Longitudinal study on iron overload status after introduction of MRI T2* Measurement on Heart and Liver Iron for Thalassaemia Major Patients in Hong Kong
Novel MRI T1 mapping for estimation of T1 relaxation time of myocardium in patients with beta-thalassaemia major

Assessment of iron overload

3. Cardiac function

New echocardiographic indices for early detection of abnormal heart functions in Thalassaemia patients
Study on use of oral chelator in reversing poor cardiac function and vascular stiffness of transfusion – dependent thalassaemic patients
Tissue Doppler echocardiography in patients with Thalasseamia for early myocardial dysfunction
Circulating Endothelial and Endothelial Progenitor Cells, Arterial Function, and Ventriculo-Arterial Interaction in Patients with Beta-Thalassaemia Major
Novel Real-Time 3-Dimensional Echocardiographic Assessment of Right and Left Ventricular Function in Patients with Beta-Thalasaemia Major
Ventricular Mechanical Dyssynchrony in Iron Loaded Patients with Beta-Thalassaemia Major
Induction of Endothelial Microparticle Generation by Plasma of Beta-Thalassaemia
Major Patients: Effect of Different Chelating Regiments and Role of Carvedilol
Myocardial Fibrosis of the Right and Left Ventricles in Thalassaemia Major
The Role of New Three Dimensional Wall Motion Tracking Echocardiography in the Quantification of Global Myocardial Mechanics and Iron Load in Patients with Beta-Thalassaemia Major
Right and Left Atrial Function in Patients with Thalassaemia Major: Interaction with Ventricular Diastolic Function and Arterial Mechanics

Cardiac function

4. Osteoporosis

Cross-sectional survey of incidence of osteoporosis and osteopenia among patients with thalassaemia major, thalassaemia intermedia and haemoglobin H disease, and one-year prospective trial of oral bisphosphonate treatment for osteoporosis in thalassaemia patients
A one-year placebo double blinded trial on additional benefit of aledronate in the treatment of osteoporosis and osteopenia among patients with Thalassaemia major, thalassaemia intermedia and hemoglobin H disease in thalassaemia patients
Pilot Study of denosumab in thalassaemia major patients with osteoporosis

5. Immune function

Dysregulation of Immune Function in Thalassaemia Patient and Implications for Clinical Care
Effects of Iron Overload on Immune Cells Differentiation and Function: Impact on Thalassaemia Patients’ Body Defense Status
Cytokine profile predicting immune dysfunction in iron overloaded thalassaemia patients
The role of iron overload on innate response against Klebsiella infection
Evaluation of Thymic Output and T-cell Senescence in Patients with Transfusion-Dependent and Non-Transfusion Dependent Thalassaemia

6. Genetics and laboratory diagnosis

Project of Genetic Modifiers of Beta-Thalassemia Phenotype
Iron overload in Thalassaemia: the role of genetic factors
Iron Absorption & Genetic Factors in Patients with Hb H Disease
Detection of genetic mutations in beta-globin gene cluster using a new molecular technique
Investigation of genetic determinants controlling fetal haemoglobin levels in Chinese individuals with β-thalassaemia and hereditary persistence of fetal haemoglobin
Molecular characterization of β-globin gene cluster alterations in Chinese hereditary persistence of fetal haemoglobin (HPFH) and β-thalassaemia subjects with elevated fetal haemoglobin
A Molecular Screening Study to document the Prevalence and Genotype of Globin Gene Disorders in Hong Kong
A Molecular Study on the Role of Alpha-Haemoglobin Stabilising Protein in modulating disease severity of Haemoglobin H disease.
A pilot study on the genetic screening in thalassaemia trait carrier couples
HBD mutation: molecular characterization, prevalence and implications for antenatal screening program in local Chinese
Development of a genetic testing method by next generation sequencing for Thalassaemia—a pilot study

Genetics and laboratory diagnosis

7. Prevention

Preimplantation Diagnosis (PGD) of Thalassaemia
Examination of maternal plasma DNA for prenatal exclusion of beta-thalassaemia major
Detection of non-deletional mutations of β-globin gene cluster in patients with unexplained βthalassaemia and hereditary persistence of fetal haemoglobin
Preimplantation genetic diagnosis of beta thalassaemia and HLA typing using the whole genome amplification method.
Preimplantation genetic diagnosis of alpha thalassaemia and aneuploidy screening using next generation sequencing technology
Development of a one-stop thalassaemia screening method by next generation sequencing

8. Obstetrics

A study on the Prevention of Gestational Diabetes Mellitus in Women with Alpha & Beta Thalassaemia Traits in Hong Kong
Fertility assessment of patients with major beta thalassaemia
A randomized controlled trial to study the effect of folic acid supplementation in pregnant women having thalassaemia trait

9. Haemopoietic stem cell transplantation

Quality of Life assessment for patients with transfusion-dependent thalassaemia after hemopoietic stem cell transplantation
Haemopoietic stem cell transplantation for patients with thalassaemia major using HLA matched unrelated donor bone marrow or unrelated cord blood
Evaluation of gonadal dysfunction after hematopoietic stem cell transplantation in patients with transfusion dependent thalassaemia
Retrospective analysis of patient / donor pairs by high resolution HLA (Human Leucocyte Antigen) typing for the cohort of patients with thalassaemia major TM who had undergone donor haemopoietic stem cell transplantation
Allogeneic unrelated hematopoietic stem cell transplantation for patients with transfusion-dependent thalassaemia
A Preclinical Investigation on Promotion of Cord Blood Hematopoietic Stem Cell Homing and Engraftment by Downregulating RGS1, RGS13 and RGS16 Gene Expression
In-utero stem cell transplant for fetal haemoglobin Bart’s disease (Hb Bart’s disease)

10. New treatment

L-carnitine for treatment of patients with beta-thalassaemia intermedia
Protective effect of thrombopoietin on iron-induced cardiomyopathy
Prevention of Cellular Iron Overload by Calcium Channel Blockers
The protective effects of thrombopoietin and amlodipine on iron overload-induced human mesenchymal stem cell damage: its impact on iron overload related osteopenia & osteoporosis.
Pilot Study of Efficacy and safety of Chinese Herbal medicine Gualou (fructus trichosanthis) in Treating beta-thalassaemia Intermedia Patients.
Prevention of cellular iron overload by calcium channel blockers: Assessing the intracelluar labile iron accumulation with or without the use of calcium channel blockers
Effect of Bismuth compound as anti-oxidant for iron overload protection

11. Other complications

Daytime sleepiness and obstructive sleep apnoea in children and adolescents with beta-thalassaemia – a pilot study
Pulmonary function in β-thalassaemia major: follow-up and airway inflammation study
Renal dysfunction in patients with transfusion-dependent thalassaemia (REDEFINE study)

12. Gene therapy and editing

Using gene editing tool (CRISP/Cas9) to improve hemoglobin production by erythropoietic cells derived from β-thalassaemia patient-specific iPSCs
Gene therapies targeting BCL11A for beta-thalassemia treatment development
Development of Gene Therapy for β-Thalassaemias through Therapeutic Genome Editing in Human Blood Stem Cells

Prevention