Publications by authors named "Ioanna Argyrakouli"

Article Synopsis
  • Hemoglobinopathies, such as β-thalassemia and sickle cell disease, are inherited disorders caused by genetic mutations affecting the production and structure of hemoglobin, leading to severe anemia in β-thalassemia and distorted red blood cells in SCD.
  • Recent advancements in gene therapy and gene editing show promise, but there is still a need to understand the mechanisms regulating hemoglobin production and to develop new, targeted treatments.
  • The review focuses on the complex molecular pathways that impact hemoglobin expression, discusses potential therapeutic strategies, and highlights drugs and interventions designed to restore normal hemoglobin function in affected patients.
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Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on the concomitant presence or absence of other mutations or variants in the beta, alpha or other modifying genes. We present a Greek patient harboring a Hb Agrinio variant plus the - -Med alpha deletional allele, having an infrequent severe form of alpha thalassemia, in contrast to the typical alpha thalassemic patient and requiring regular red blood cell (RBC) transfusions and chelation treatment.

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Hemoglobinopathies affect patients in the wider Mediterranean area consisting of 4 distinct subgroups: beta thalassemia major (TM), beta thalassemia intermedia (TI), sickle cell disease (SCD) and hemoglobin H disease (alpha thalassemia). The clinical spectrum varies from mild to severe. Complex interactions between genes and environmental factors form the clinical manifestations.

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