Living with a Hereditary Anemia—Diagnosis and Clinical Management

Dear Colleagues,

Hereditary anemias are genetically and clinically highly variable diseases (constituted by mild, moderate, or severe forms) and represent a major health problem worldwide, causing childhood mortality and morbidity, especially in developing countries. Even though for many hereditary anemias no definitive cure is available, supportive treatments have significantly contributed to the improvement of the quality of life of affected people (including an increased survival even in the most severe forms of the diseases).

Anemia may be classified as impaired red blood cell (RBC) production or increased RBC destruction (hemolytic anemias). The underlying cause of hereditary anemia may be due to hemoglobinopathies (for instance thalassemias and sickle-cell disease), defects of the red blood cell membrane (for instance hereditary spherocytosis and hereditary elliptocytosis), enzyme deficiencies (for instance glucose-6-phosphate dehydrogenase, the most common cause of acute hemolytic anemia), or inherited bone marrow failure syndromes (such as Fanconi anemia, Diamond–Blackfan anemia, and Shwachman–Diamond syndrome).

The Special Issue will focus on tools available to the scientific community and patients for up-to-date molecular diagnosis and therapeutic approaches for hereditary anemias, including DNA/RNA-based approaches, and cellular and gene therapies. Articles describing clinical and preclinical research will be also considered.

The main topics include, but are not limited to:

• Hereditary anemias
• Molecular basis and genetics/epigenetics of hereditary anemias
• Thalassemia
• Sickle-cell disease
• Fanconi anemia
• Hereditary spherocytosis
• Diamond–Blackfan anemia
• Swachman–Diamond syndromes
• OMICS analyses
• Defects of red blood cell membrane
• Erythropoiesis and abnormal erythropoiesis
• Regulation of iron metabolism
• MicroRNAs
• Long non-coding RNAs
• In vitro experimental model systems
• In vivo experimental model systems, including transgenic animals
• Molecular diagnosis
• Prenatal diagnosis
• Therapeutic treatments of hereditary anemias
• Gene therapy
• Induction of Fetal Hemoglobin
• Clinical trials

Prof. Dr. Roberto Gambari
Dr. Eleni Katsantoni
Guest Editors

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• hereditary anemias
• OMICS analyses
• non-coding RNAs
• in vitro experimental model systems
• molecular diagnosis
• prenatal diagnosis
• therapeutic treatments of hereditary anemias
• gene therapy
• clinical trials