Premium
Thalassemia major phenotype caused by HB Zürich‐Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child
Author(s) -
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.
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27413
Subject(s) - medicine , compound heterozygosity , thalassemia , hemoglobin , erythropoiesis , ineffective erythropoiesis , mutation , hemolytic anemia , phenotype , anemia , pediatrics , genetics , gene , biology
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 ZA α/αα and –/α ZA α, respectively) have been described so far in Switzerland and China. We describe here a case of homozygosity for the Hb ZA mutation (α ZA α/α ZA α) in a Brazilian child with severe congenital hemolytic anemia and ineffective erythropoiesis.