ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan

Ikeda, Fumika; Toki, Tsutomu; Kanezaki, Rika; Terui, Kiminori; Yoshida, Kenichi; Kanno, Hitoshi; Ohga, Shouichi; Ohara, Akira; Kojima, Seiji; Ogawa, Seishi; Ito, Etsuro

doi:10.1007/s12185-015-1891-0

Cited by 2 publications

(1 citation statement)

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“…It was also reported that ALDH2 polymorphism contributes to the progression of BMF in Japanese children with idiopathic aplastic anaemia (Kawashima et al , ) but not in Diamond‐Blackfan Anaemia patients (Ikeda et al , ). In the former report, age at diagnosis was significantly lower in the AA group than the GG group, and failure‐free survival at 10 years after immunosuppressive therapy was significantly lower in the AA/GA group than in the GG group.…”

Section: Resultsmentioning

confidence: 95%

The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype

Yabe

Morimoto

et al. 2016

Br J Haematol

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SummaryStudies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase-2 (ALDH2) dysfunction could provoke bone marrow failure, leukaemia and developmental defects, and that both maternal and fetal aldehyde detoxification are crucial to protect the developing embryo from DNA damage. We studied the ALDH2 genotypes of 35 Japanese FA patients and their mothers. We found that a normal maternal ALDH2 allele was not essential for fetal development of ALDH2-deficient patients, and none of the post-natal clinical parameters were clearly affected by the maternal ALDH2 genotype in these patients.

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Section: Resultsmentioning

confidence: 95%