Thalassemia and its Relevance to Personalized Medicine

Abstract

Thalassemias are the most common monogenic gene disorders in the world. Patients present with a wide variability of clinical phenotypes ranging from severe phenotype (β-thalassemia major) to a very mild, almost symptomless, condition. This variability is owing to the presence of a large number of genetic modifiers affecting the disease. Patients are treated with blood transfusions and iron chelation therapy. Pharmacological therapies have varying degrees of success depending on the genetic modifiers of the disease present in the patients. Studies undertaken to identify all the modifiers that affect β-thalassemia will lead to more appropriate genetic counseling during prenatal diagnosis and enable targeted and personalized treatment regimens for patients in the future.

Keywords: :

• β-thalassemia
• gene modifiers
• personalized medicine
• phenotype/genotype correlations

Financial & competing interests disclosure

The authors wish to acknowledge the support of the Cyprus Research Promotion Foundation for the project ‘HU-PHARMGK’ pDE/0406/02. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this mauscript.

Additional information

Funding

The authors wish to acknowledge the support of the Cyprus Research Promotion Foundation for the project ‘HU-PHARMGK’ pDE/0406/02. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this mauscript.