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Article

Development of the Next Generation Sequencing-Based Diagnostic Test for β-Thalassemia and its Validation in a Pashtun Family.

Hemoglobin - 1 Jul 2020

Sabiha Bibi, Haider Syed Adnan, Jan Hanifullah, Yousafzai Yasar Mehmood, Afridi Ome Kalsoom, Khan Abid Ali, Ali Johar

Abstract excerpt

β-Thalassemia (β-thal) is a common monogenic disease with ethnic-specific mutations on the HBB gene throughout the world. The reported mutations either reduce the expression or completely inactivate the HBB gene. In Pakistan, the prevalence of β-thal is high due to consanguineous marriages. Accurate identification of mutations in carriers is imperative for prevention of β-thal in subsequent generations. To...

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Identifiers

PMID: 32691635
DOI: 10.1080/03630269.2020.1793773

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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