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Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child.

Pediatric blood & cancer - 1 Dec 2018

Pedroso Gisele A, Kimura Elza M, Santos Magnun N N, Albuquerque Dulcinéia M, Malimpensa Danaê, Jorge Susan E, Verissimo Monica P A, Costa Fernando F, Sonati Maria F

Abstract excerpt

Hemoglobin (Hb) Zürich-Albisrieden (ZA) [α2 59(E8) Gly > Arg; HBA2:c.178G > C] is a rare and highly unstable α-chain variant. A few simple and compound heterozygotes (αZA α/αα and -/αZA α, respectively) have been described so far in Switzerland and China. We describe here a case of homozygosity for the Hb ZA mutation (αZA α/αZA α) in a Brazilian child with severe congenital hemolytic anemia and ineffective...

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Identifiers

PMID: 30151892
DOI: 10.1002/pbc.27413

Genes

HBA2

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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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