ABSTRACT

CONCLUSIONS:

This study showed that in cases of TI with β+ mutations most common genetic modifier factors are the type of mutation and presence of α thalassemia, while in cases of β0 mutations the most common genetic modifier is the presence of Xmn1 (+/+) genotype.

RESULTS:

Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, α thalassemia gene deletion, mild β+ alleles were found in 10,1,5,6 of TI patients respectively. One or more positive genetic modifiers were found in 21 patients out of 26 TI (80,8%) patients. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, α thalassemia gene deletion, mild β+ alleles were found in 1, 3, 4,5 of TM patients respectively. One or more positive genetic modifiers were found in 11 patients out of 58 TM (18,9%) patients. In the study, all TI patients having β0 mutations had Xmn1 (+/+) genotype.

MATERIALS and METHODS:

Eighty-four patients diagnosed as β Thalassemia Major (TM) or β Thalassemia Intermedia (TI) were recruited from pediatric hematology clinics of Dr. Behçet Uz Children’s Hospital and Tepecik State Hospital. The clinical and demographic characteristics (including β Thalassemia mutations) of patients were retrospectively reviewed from patients’ records. Genetic analysis of patients for Xmn1 Polymorphism and α thalassemia mutations were done at Aegean University, Faculty of Medicine Department of Medical Genetics.

INTRODUCTION:

Main purpose of this study is to evaluate the effects of some genetic modifiers; especially by correcting the imbalance between α/non α chains on clinical severity of Turkish β Thalassemia patients.