Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC] occurs frequently on the Indian subcontinent.
Point mutations of alpha-globin genes in homozygous or in compound heterozygous states cause severe alpha-thalassemia (alpha-thal). Here we describe a polymerase chain reaction-restriction fragment length polymorphism-based method for easy detection of the point mutation Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC>TAC], earlier detected by a sequencing technique. In a cohort of 104 unrelated putative alpha-thal patients, nine carried the mutation and two were homozygotes. The mutation occurred on both the alpha2- or alpha1-globin genes. The phenotypes, in conjunction with other point mutations or deletions, are presented. Earlier detected in Pakistan and Punjab of India, it is probably present all over the Indian subcontinent.
Roy
Papai
P
Department of Biophysics, Molecular Biology & Bioinformatics, University of Calcutta, Kolkata 700009, India.
Bhattacharya
Gargi
G
Banerjee
Debasish
D
Chandra
Sarmila
S
Ghosh
Malay
M
Choudhuri
Utpal
U
Das
Manikanchan
M
Dasgupta
Uma B
UB
D005787:Gene Frequency; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007194:India / Q000453:epidemiology; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C406703:hemoglobin Sallanches