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

Pediatric Blood & Cancer
Gisele A PedrosoM F Sonati

Abstract

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 erythropoiesis.

References

Oct 1, 1990·British Journal of Haematology·C DodéR Krishnamoorthy
Jan 1, 1981·Hemoglobin·T NakatsujiI Matsuoka
Mar 8, 1996·Journal of Molecular Biology·M PaoliG Dodson
Oct 1, 1996·American Journal of Hematology·A C KattamisP Fortina
Feb 1, 1997·British Journal of Haematology·V ChanT K Chan
Jun 13, 2006·Journal of Molecular Biology·Sam-Yong ParkJeremy R H Tame

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