Factors affecting health-related quality of life and its association with the Xmn1-Gγ polymorphism among adolescents with transfusion-dependent beta thalassemia and HbE/β-thalassemia in East Coast Malaysia

Single Nucleotide Polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and Their Relation to High Fetal Hemoglobin Levels That Alleviate Anemia

“…The presence of SNPs may have implications in a disease, such as increased HbF levels in common and complex diseases or conditions, e.g., drug-induced conditions, SCD, β-thalassemia, anemia, diabetes, chronic kidney failure, malignancies, or obesity in many regions of the world, such as Europe, the Middle East, and Southeast Asia, including Malaysia [ 20 , 38 , 39 , 40 , 41 , 42 , 43 , 44 ]. Several SNPs, such as rs11886868, rs766432, rs9399137, rs742144, rs9399137, rs28384513, and rs4671393, are associated with erythropoiesis and HbF augmentation ( Table 1 and Figure 2 ) [ 45 , 46 , 47 ].…”

“…XMN1-HBG2 is a genetic modifier in β-thalassemia, located at −158 upstream of the γ-globin gene on chromosome 11. The polymorphism of XMN1 is expressed in the γ-globin gene in the promoter region by nucleotide substitution of C→T (rs7482144), thus increasing HbF levels and ameliorating the phenotype of β-thalassemia and anemia ( Figure 2 [ 25 , 42 ]. Because of increased HbF levels, patients with heterozygous XMN1 - HBG2 have only modest clinical manifestations [ 41 ].…”

“…The SNP rs7482144 in XMN1-HBG2 has caused a 2.2% variation in HbF expression in African American SCD patients in the United States [ 47 ]. In Indonesia, the HbF expression is slightly higher, at 3.2%, and it is even higher in Syria, at 16.3% [ 39 , 42 , 59 ].…”