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https://doi.org/10.2...arrow_drop_down
https://doi.org/10.2174/978981...
Part of book or chapter of book . 2022 . Peer-reviewed
Data sources: Crossref
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Hemoglobinopathies

Authors: Mahnoor Asif; Sadia Nawaz; Muhammad Tariq;

Hemoglobinopathies

Abstract

Hemoglobinopathies are a group of inherited blood disorders characterized by compromised hemoglobin function. Hemoglobin is a 64kDa protein, consisting of four globin polypeptides each containing one heme molecule; blood acquires its red color from this heme molecule. Two of the four polypeptide chains are α-globin chains, whereas the other two are β and γ chains during adult and fetal life, respectively. Hemoglobin carries oxygen to respirating cells and tissues in vertebrates and defects in genes encoding this protein result in a variety of disorders, ranging from mild asymptomatic to severe fatal phenotypes. This chapter reviews various hemoglobinopathies underlying mutations in globin genes. We also provide a brief note of the traditional and contemporary diagnostic approaches and screening, both prenatal and postnatal, with a specific focus on recent advances in this regard. We have summarized various therapeutic strategies, from transfusion and iron chelation to CRISPR-driven genome editing aimed at reactivating fetal hemoglobin in adults. The chapter concludes with a brief account of the future challenges and prospects for developing a therapy for hemoglobinopathies a clinical reality

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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