A novel deletional beta-thalassemic variant in an ethnic Qatari patient.
Point mutations are responsible for the majority of the disease-causing alleles in beta-thalassemia (beta-thal) worldwide. We report here a novel deletional variant beta-thal allele in an ethnic Qatari patient, hitherto unreported in the literature. The deletion spans exon 1, the entire intron 1 and the first two bases of exon 2 causing a frameshift and the premature appearance of a stop codon.
Al-Obaidli
Aisha
A
Biological and Environmental Sciences Department, Qatar University, Doha, Qatar.
Gerard
Nathalie
N
Al Zadjali
Shoaib
S
Fawzi
Zainab
Z
Pravin
Sahaya
S
Pathare
Anil
A
Krishnamoorthy
Rajagopal
R
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017354:Point Mutation; D011780:Qatar; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology