Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis.
OBJECTIVE
To study the prevalence of beta-thalassemia mutations in two North Indian states.


METHODS
Mutation(s) were analyzed in 62 patients using 10 sets of allele-specific primers.


RESULTS
Four mutations [IVS1 nt5 (G --> C), F.S 8/9 (+G), F.S 41/42 (-TCTT) and del 619 bp] were found to constitute 94.1% of the total alleles studied. Prevalence of IVS1 nt5 (G --> C) was the highest, closely followed by F.S 8/9 (+G). The latter was thus unusually high and not consistent with earlier reports. Two mutations in cis were detected in one carrier of the thalassemia trait and in his father, thus signifying the possibility of vertical transmission of mutations in a single beta-globin allele.


CONCLUSIONS
F.S 8/9 (+G), as well as IVS1 nt5 (G --> C), are the major mutations in Indian states; however, the possibility of multiple mutations in cis in a fetus with the thalassemia trait has to be considered in a prenatal screening program.
Chakrabarti
Partha
P
Department of Biochemistry, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, U.P., India.
Gupta
Ramkrishna
R
Mishra
Ashutosh
A
Rai
Madhukar
M
Singh
Vijay Pratap
VP
Dash
Debabrata
D
D000483:Alleles; D016368:Frameshift Mutation; D005787:Gene Frequency; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007194:India / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D015995:Prevalence; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D005914:Globins