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. 2015 May-Jun;37(3):202-6.
doi: 10.1016/j.bjhh.2014.12.002. Epub 2015 May 12.

Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)(0)-thalassemia in eastern India

Snehadhini Dehury  1 , Prasanta Purohit  1 , Satyabrata Meher  1 , Kishalaya Das  1 , Siris Patel  2
Affiliations

Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)(0)-thalassemia in eastern India

Snehadhini Dehury et al. Rev Bras Hematol Hemoter. 2015 May-Jun.
No abstract available

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Figures

Figure 1
Figure 1
Map of India depicting the zonal distribution of β-thalassemia mutations.
Figure 2
Figure 2
High performance liquid chromatogram in the case of compound heterozygous state for β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)0 thalassemia (chromatogram one year after hospitalization at follow-up).
Figure 3
Figure 3
Agarose gel electrophoresis for the detection of β-thalassemia with IVS1-5 (G→C) mutation (ARMS PCR) and Indian deletion-inversion Gγ(Aγδβ)0 thalassemia (GAP-PCR). *I: index; M: mother; F: father; L: ladder. Detection of β-thalassemia with IVS1-5 (G→C) mutation by ARMS PCR (Line A1, Line A4 and Line A6 for normal β-globin gene, and Line A2, Line A5 and Line A7 for IVS1-5 [G→C] mutation). Detection of Indian deletion-inversion Gγ(Aγδβ)0 thalassemia by GAP-PCR (Line B1, Line B2 and Line B3 for Breakpoint-A, and Line B4, Line B5 and Line B6 for Breakpoint-B).
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