First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]

Sae Ishimaru; Yuya Saito; Yuichi Yokokawa; Yuki Yuza; Takashi Kaneko

doi:10.1111/ped.12775

First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]

Sae Ishimaru, Yuya Saito, Yuichi Yokokawa, Yuki Yuza, Takashi Kaneko

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

2 Citaten (Scopus)

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Hemoglobin Evans is an unstable variant caused by a single nucleotide mutation that produces a valine-to-methionine substitution at residue 62 of the α-globin chain. It has not been reported in the Asian population and only three cases have been reported worldwide. We diagnosed a Japanese boy with chronic hemolytic anemia with hemoglobin Evans after genetic testing. This is the first familial case of hemoglobin Evans in an Asian population.

Originele taal-2	Engels
Pagina's (van-tot)	301-303
Aantal pagina's	3
Tijdschrift	Pediatrics International
Volume	58
Nummer van het tijdschrift	4
DOI's	https://doi.org/10.1111/ped.12775
Status	Gepubliceerd - 1 apr. 2016
Extern gepubliceerd	Ja

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10.1111/ped.12775

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title = "First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]",

abstract = "Hemoglobin Evans is an unstable variant caused by a single nucleotide mutation that produces a valine-to-methionine substitution at residue 62 of the α-globin chain. It has not been reported in the Asian population and only three cases have been reported worldwide. We diagnosed a Japanese boy with chronic hemolytic anemia with hemoglobin Evans after genetic testing. This is the first familial case of hemoglobin Evans in an Asian population.",

keywords = "aplastic crisis, chronic hemolytic anemia, hemoglobin Evans, neonatal jaundice, unstable hemoglobin",

author = "Sae Ishimaru and Yuya Saito and Yuichi Yokokawa and Yuki Yuza and Takashi Kaneko",

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AU - Ishimaru, Sae

AU - Saito, Yuya

AU - Yokokawa, Yuichi

AU - Yuza, Yuki

AU - Kaneko, Takashi

PY - 2016/4/1

Y1 - 2016/4/1

N2 - Hemoglobin Evans is an unstable variant caused by a single nucleotide mutation that produces a valine-to-methionine substitution at residue 62 of the α-globin chain. It has not been reported in the Asian population and only three cases have been reported worldwide. We diagnosed a Japanese boy with chronic hemolytic anemia with hemoglobin Evans after genetic testing. This is the first familial case of hemoglobin Evans in an Asian population.

AB - Hemoglobin Evans is an unstable variant caused by a single nucleotide mutation that produces a valine-to-methionine substitution at residue 62 of the α-globin chain. It has not been reported in the Asian population and only three cases have been reported worldwide. We diagnosed a Japanese boy with chronic hemolytic anemia with hemoglobin Evans after genetic testing. This is the first familial case of hemoglobin Evans in an Asian population.

KW - aplastic crisis

KW - chronic hemolytic anemia

KW - hemoglobin Evans

KW - neonatal jaundice

KW - unstable hemoglobin

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ER -

First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]

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