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

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 (α α/αα and -/α α, respectively) have been described so far in Switzerland and China. We describe here a case of homozygosity for the Hb ZA mutation (α α/α α) in a Brazilian child with severe congenital hemolytic anemia and ineffective erythropoiesis.