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

Pediatr Blood Cancer. 2018 Dec;65(12):e27413. doi: 10.1002/pbc.27413. Epub 2018 Aug 27.

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.

Keywords: Hb Zürich-Albisrieden; thalassemia major phenotype; α-thalassemia.

Publication types

  • Case Reports

MeSH terms

  • Brazil
  • Genotype
  • Hemoglobins, Abnormal / genetics*
  • Homozygote*
  • Humans
  • Infant
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Zurich Albisrieden