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Hemoglobinopathies

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Lead Guest Editor:
Tamer Hassan
Zagazig University, Zagazig, Egypt
Guest Editors
Galila Mokhtar
Ain Shams University
Cairo, Egypt
Introduction
Hemoglobinopathies are defined as inherited qualitative or quantitative abnormalities of globin synthesis. Thalassemias are generally caused by inadequate quantities of the polypeptide chains that form hemoglobin and the most frequent forms of thalassemia are therefore the α and β-thalassemias. In Sickle cell Anemia, the E6V (glutammic acid to valine at codon 6) mutation replaces a polar by a neutral amino acid on the outer surface of the b-globin molecule. The red blood cells of people with sickle cell disease contain an abnormal type of hemoglobin, called hemoglobin S. There are also some clinically significant variant hemoglobin including hemoglobin C, hemoglobin E, hemoglobin constant spring, hemoglobin Barts and hemoglobin H.

Aims and Scope:

  1. Beta thalassemia Major
  2. Non transfusion dependent thalassemias (NTDT) including thalassemia intermedia
  3. Alpha Thalassemia
  4. Sickle cell Anemia
  5. Other structural hemoglobinopathies including and not limited to Hemoglobin C and Hemoglobin E diseases.
  6. Genotype phenotype relationship in thaassemias
  7. Updates in diagnosis of hemoglobinopathies
  8. Updates in treatment of hemoglobinopathies
  9. Genetic diagnosis of hemoglobinopathies
  10. Prenatal and Preimplantation genetic diagnosis
  11. Hematopoietic stem cell transplantation in hemoglobinopathies
  12. Updates in assessment of iron overload in hemoglobinopathies
  13. Updates in ion chelation in hemoglobinopathies
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