Hb Sallanches [α104(G11)Cys→Tyr, TGC>TAC] Occurs Frequently on the Indian Subcontinent

Abstract

Point mutations of α-globin genes in homozygous or in compound heterozygous states cause severe α-thalassemia (α-thal). Here we describe a polymerase chain reaction-restriction fragment length polymorphism-based method for easy detection of the point mutation Hb Sallanches [α104(G11)Cys→Tyr, TGC>TAC], earlier detected by a sequencing technique. In a cohort of 104 unrelated putative α-thal patients, nine carried the mutation and two were homozygotes. The mutation occurred on both the α2- or α1-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.

Keywords:

• Hb Sallanches
• Diagnosis
• India
• α-Thalassemia (α-thal)
• Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)

ACKNOWLEDGMENTS

Financial assistance from the West Bengal Department of Science and Technology (A/F/814/4S/1984/2007) and University Grant Commission (UGC/194/UPE/2007/2) is acknowledged.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.