Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening

Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening

Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, in some instances, this program is unable to identify rare mutations leading to thalassemia. Case ...

detection of rare beta globin gene mutations in northwestern iran

introduction: recent molecular studies on iranian β-thalassemia genes revealed the presence of eight common mutations associated with thalassemia. although these mutations are frequent, there are other rare and unknown mutations that can create large problems in designing preventive programs. we detected and explained the common mutations in north-western iran previously and detection of the ra...

Identification of a Rare Synonymous Beta Globin Mutation, HBB:c.180G>A codon 59 (G>A) in an Iranian Patient

Beta thalassemia is the  most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...

high prevalence of rare mutations in the beta globin gene in an ethnic group in iran

High Prevalence of Rare Mutations in the Beta Globin Gene in an Ethnic Group in Iran

Dear Editor, Beta Thalassemia major is a genetic disease with an autosomal recessive pattern and is differentiated by severe microcytic hypochromic hemolytic anemia with hepatosplenomegaly, ineffective erythropoiesis and bone marrow expansion. The β-globin (HBB) gene coding for β-chain expression is located on a 50 kb globin gene cluster on the short arm of chromosome 11, whose mutation mediate...