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

Pedroso Gisele A. | Zendy; Kimura Elza M. | Zendy; Santos Magnun N.N. | Zendy; Albuquerque Dulcinéia M. | Zendy; Malimpensa Danaê | Zendy; Jorge Susan E. | Zendy; Verissimo Monica P.A. | Zendy; Costa Fernando F. | Zendy; Sonati Maria F. | Zendy

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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.

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