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Article

Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype.

Molecular biology reports - 1 Oct 2017

Hariharan Priya, Sawant Madhavi, Gorivale Manju, Manchanda Ruma, Colah Roshan, Ghosh K, Nadkarni Anita

Abstract excerpt

Co-inheritance of gamma and beta globin gene mutations in a compound heterozygous state is rare but of clinical interest as it provides an important data on understanding the HbF expression. Hematological analysis was carried out (Sysmex KX-21). F-cells were enumerated using flow cytometry. Beta globin gene was analysed by CRDB technique and by DNA sequencing. Gamma globin promoter region was sequenced and...

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PMID: 28879539
DOI: 10.1007/s11033-017-4125-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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