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Fig. 1 | Journal of Medical Case Reports

Fig. 1

From: Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report

Fig. 1

Details related to the case study. A The pedigree diagram illustrates family history: one male sibling (deceased) was affected with β-thalassemia major and other siblings were unaffected. B Sequencing data shows wild type and mutant chromatograms for both exonic (CD3 [T>C] and CD41/42 [-CTTT]), and intronic (IVS II-16 [G>C] and IVS II-666 [C>T]) variants. C Clinical data collected from the hospital. D Schematic diagram of HBB gene structure with four identified variants at their respective locations

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Journal of Medical Case Reports

ISSN: 1752-1947