2nd European Hemoglobinopathy Forum - Bio-Rad

Insights on the diagnosis of hemoglobin disorders

2011 November, 29th

Madrid (Spain)

The 2nd European Hemoglobinopathy Forum, organized by Bio-Radis, is a discussion forum about state of the art of hemoglobinopathies in Europe.

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  • Dr. Henri Wajcman, France
    The history of the development of methods in the identification of hemoglobin disorders (from Pauling to molecular biology)
    Presentation (3,367 kb)

SESSION 1. State of the Art of Hemoglobinopathies in Europe

  • Dr. Piero C. Giordano, The Netherlands
    The increasing frequency of hemoglobin disorders in Europe. Distribution of thalassemia and abnormal hemoglobins among indigenous populations; increase through legal and illegal immigration; Impact on hospitals and society. Need for sensitization, carrier identification, education and prevention
    Presentation (3,367 kb)
  • Dr. Joan Lluis Vives-Corrons, Spain
    The ENERCA experience Development of services, sharing information, fostering networking and increasing knowledge
    Presentation (3,367 kb)
  • Dr. Elena Dulin (Spain), Dr. Catherine Badens (France), Dr. Henthorn (UK)
    Newborn Hemoglobinopathy Screening Programmes: Current Status and Future Plans. Data from the NBS experience in Spain, France and Overseas territories and the UK
    Presentation (1,053 kb)

SESSION 2 Controversial Arguments in the Prevention and Diagnosis of Hemoglobinopathies

  • Dr. Passarello, Italy
    The diagnosis of thalassemia (α- and β-) heterozygotes Main features; the value of MCH/MCV, HbA2 and HbF. iron deficiency; a-thalassemia; β+δ-thalassemia; a diagnostic flowchart
    Presentation (16,596 kb)
  • Dr. Andrea Mosca, Italy
    The importance of HbA2. The IFCC HbA2 standardization project
    Presentation (1,613 kb)
  • Dr. Barbara Wild, UK
    The importance of HbA2. External Quality Assessment Scheme for HbA2
    Presentation (2,197 kb)
  • Dr. Michael Angastiniotis, Cyprus
    Approach to the involved populations. Ongoing programs. Planned programs.
    Presentation (1,212 kb)
  • Dr. Trefor Higgins, Canada
    Hemoglobinopathies causing difficulties in the interpretation of HbA2 values
    Presentation (9,674 kb)

SESSION 3 Diagnostic Challenges and Pitfalls

  • An interactive session challenging the audience on controversial questions such as: (a) is newborn screening for SCD useful for the identification of other thalassemic conditions? (b) can carrier status or thalassemia severity be predicted at the newborn stage? (c) what mechanisms may underlie the various atypical cases of borderline HbA2? (d) correlation phenotype-genotype
    Moderator: Dr. Dimitris Loukopoulos, Greece
  • Expert Panel:
    • Dr. Marelle Bouva, The Netherlands: Bart’s detection on the occasion of NBS for SCD
      Presentation (1,064 kb)
    • Dr. Giovanni Ivaldi, Italy: HbA distribution in cord blood (normal vs β+ or β0-thalassemia carriers)
      Presentation (3,693 kb)
    • Dr. John Old, UK: Borderline HbA2 levels in mild thalassemias (as a result of molecular defects affecting the promoter, initiation, cryptic splicing, partial splicing or poly-adenylation sites of the β globin genes
      Presentation (364 kb)
    • Renzo Galanello, Italy: β-thalassemia interacting with α-thalassemia genes
      Presentation (5,796 kb)

SESSION 4 New Advances in Physiopathology and Diagnosis

  • Dr. Renzo Galanello, Italy
    New advances in regulation of fetal hemoglobin: clinical and laboratory impact
  • Dr. Alex Felice, Malta
    Does Quantitative Heterogeneity of Foetal Haemoglobin (Hb F) Reveal Friends or Foes of KLF1 in Globin Gene Control?
    Presentation (1,338 kb)
  • Dr. Véronique Baudin-Creuza, France
    New method for detection of free alpha-hemoglobin
    Presentation (1,985 kb)

Scientific Secretariat:

  • Prof. Dimitri Loukopoulos (University of Athens, Greece)
  • Dr. María del Mar Mañú Pereira (ENERCA, Spain)
  • Prof. Joan Lluis Vives-Corrons (ENERCA, Spain)

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Co-funded by the Health Programme of the European Union.