| Literature DB >> 30151892 |
Gisele A Pedroso1, Elza M Kimura1, Magnun N N Santos1, Dulcinéia M Albuquerque2, Danaê Malimpensa1, Susan E Jorge1, Monica P A Verissimo3, Fernando F Costa2, Maria F Sonati1.
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.Entities:
Keywords: Hb Zürich-Albisrieden; thalassemia major phenotype; α-thalassemia
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Year: 2018 PMID： 30151892 DOI： 10.1002/pbc.27413
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN： 1545-5009 Impact factor: 3.167