Introduction to the course: Santina Acuto
Prenatal Diagnosis and Genotype – Phenotype Correlation
Chairperson: Paolo Moi (Italy)
8:30 – 8:50 – Counselling and prenatal diagnosis Antonis Kattamis (Greece)
8:50 – 9:10 – Genotype-phenotype correlations Antonio Piga, (Italy)
9:10 – 9:30
Q: Najat Roohaldeen, Tachjaree Panchalee, Mara Memoli, Hala Gabr, Valeria Cento, Wael Aboulkheir, Nur Aisyah Aziz
A: Antonis Kattamis and Antonio Piga
Proposed Questions to be addressed:
- How to counsel the couple for beta thal/HbE disease with low severity or predictive factors to decrease the severity of disease?
- How different factors in severity of HbH disease (non-depedent vs depedent blood transfusion)?
- What is the “flowchart” for prenatal diagnosis of thalassemia?
- Which mistakes may I make in taking clinical decision on the basis of genotype?
- Which is the target population?
- Which are the main reasons for failure on the thalassemia prevention programs?
- How to do best for the counselling?
- According to the high complication of PND test for pregnant mothers and false negative results, development of another test such as Pre Implantation Genetic Diagnosis (PGD) is necessary, so what are the methods for simplifying the performance of these?
- According of Iran Health Ministry data, the new case of B-thalassemia are 250 newborn patients per year. This happens performing two screening tests in the last years. Therefore, which are the useful methods in order to decrease the birth-rate newborn with B-thalassemia?
- Which is the cut off value of HB A2 to screen for silent beta thalassemia trait?
- Which is the different clinical phenotype of silent beta thalassemia?
- Which is the significance of coinheretence rare hemoglobin band e.g HB Hope
- Which is the most recent and easy molecular methods for detection of thalassemia mutation to be used in hematology Lab?
Current management of ß-thalassemias and hypercoagulable state
Chairperson: Antonio Piga, Italy
9:30 – 9:50 – Current management of ß-thalassemias Alan Cohen (USA)
9:50 – 10:10 – Hypercoagulable State on Thalassemia Eliezer Rachmilewitz, (Israel)
10:10 – 10:30 Q : Q. Najat Roohaldeen, Tachjaree Panchalee, Mara Memoli, Hala Gabr, Valeria Cento, Wael Aboulkheir, Nur Aisyah Aziz A: Antonis Kattamis and Elezier Rachmilewitz
A: Alan Cohen and Elezier Rachmilewitz
10:30 – 10:45 Coffee Break
Proposed Questions to be addressed:
What is the pathophysiology of the multiple silent cerebral lesions in patients with Thal major and intermedia?
Identify the characteristics of an optimal unit of donor red cells for transfusion in thalasse- mia major.
What are the most important indications for splenectomy in thalassemia major.
Identify at least one appropriate use of each of the three available iron chelators.
What are the therapeutic options for Hypercoagolable state in Thalassemia?
Which are the main indicators to change chelation treatment?
Which are the main predictors of diease prognosis?
Which is the limit of serum ferritin levels in the management of thalassemia iron overloading ?
Which are the main parameters for deciding to start chelation treatment?
How to manage iron overloading in anemic women during pregnancy ?
Sickle-Cell Disease and Gene Therapy
Chairperson: Elezier Rachmilewitz (Israel)
10:45 – 11:05 – Sickle Cell Disease: past, present and future Paul Telfer (UK)
11:05 – 11:25 – Gene Therapy for Hemoglobinopathies Paolo Moi (Italy)
11:25 – 11:45 Q: Najat Roohaldeen, Tachjaree Panchalee, Mara Memoli, Hala Gabr, Valeria Cento, Wael Aboulkheir, Nur Aisyah Aziz A: Paul Telfer and Paolo Moi
A: Paul Telfer and Paolo Moi
Proposed Questions to be addressed :
- Please describe the background for design of CRISPR for gene correction of thalassemia and sickle cell disease
- May you give me an overview of genome editing approaches for gamma-globin gene reactivation?
- Which is the role of bone marrow transplantation in the care of people with SCD?
- Which are the prevalent phenotype of Sickle Cell carriers ?
- Which are the main prognostic factors of SCD?
- Intrauterine gene therapy for hematological diseases, can it be possible?
- What are the current indications for treatment of sickle cell disease with (1) hydroxyurea and (2) regular blood transfusion?
Tissue Iron Measurement by MRI
Chairperson: Paul Telfer (UK)
11:45 – 12:05 – Tissue Iron Measurement by MRI: Advances, Challenges, and Pitfalls Tim St Pierre (Australia)
12:05 – 12:25 – C-licnet Network: potential worldwide MRI network for the management of thalassemia syndromes Aurelio Maggio (Italy)
12:25 – 12:45 Q: Q:Najat Roohaldeen, Tachjaree Panchalee, Mara Memoli, Hala Gabr, Valeria Cento, Wael Aboulkheir, Nur Aisyah Aziz
A: Tim St. Pierre and Aurelio Maggio
Sponsored by Agilent:
Chairperson: Santina Acuto
12:45 – 13:10 – Measuring Mitochondrial function and Glycolysis for the Metabolic Phenotype detection in Hematological Disease E. Di Capua (Italy)
13:10 – 13:30 – Genomic strategies for target capture in onco-hematology A. Agostino (Italy)
Closing remarks: Aurelio Maggio (Italy)
13.30 – 14.30 Light Lunch
Proposed Questions to be addressed :
- Which are the organs where the determination of iron by MRI is crucial?
- Which are the limits of MRI measurements?
- Which are the cut-off of heart and liver iron overloading that I have to monitor for changing chelation treatment?
- Which are the options for managing iron overloading if I do not have access to MRI or this access is limited?
- Which is the timing to repeat LIC and Heart MRI determinations in the patients?
08.00 | 08.30 – Registrations
