Thalassemia and its relevance to personalized medicine.
Per Med
; 5(2): 141-153, 2008 Mar.
Article
in En
| MEDLINE
| ID: mdl-29783353
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 (ß-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 ß-thalassemia will lead to more appropriate genetic counseling during prenatal diagnosis and enable targeted and personalized treatment regimens for patients in the future.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Per Med
Year:
2008
Document type:
Article
Affiliation country:
Cyprus