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Start Over Author "Kimura EM" Publisher john wiley
2 results on '"Kimura EM"'

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

Author

Pedroso GA, Kimura EM, Santos MNN, Albuquerque DM, Malimpensa D, Jorge SE, Verissimo MPA, Costa FF, and Sonati MF

Subjects
Brazil, Genotype, Humans, Infant, Male, Mutation, Pedigree, Phenotype, Hemoglobins, Abnormal genetics, Homozygote, alpha-Thalassemia genetics, beta-Thalassemia genetics
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 (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., (© 2018 Wiley Periodicals, Inc.)

Published
2018
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2. Hemoglobin Hammersmith [beta42 (CD1) Phe --> Ser] in a Brazilian girl with congenital Heinz body hemolytic anemia.

Author

Sonati MF, Kimura EM, Abreu CF, Oliveira DM, Pinheiro VR, and Costa FF

Subjects
Anemia, Hemolytic, Congenital pathology, Brazil, Child, Preschool, Female, Genetic Testing, Globins genetics, Humans, Point Mutation, Polymerase Chain Reaction methods, Sensitivity and Specificity, Sequence Analysis, DNA, Anemia, Hemolytic, Congenital complications, Anemia, Hemolytic, Congenital genetics, Heinz Bodies pathology, Hemoglobins, Abnormal analysis, Hemoglobins, Abnormal genetics
Published
2006
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