Advertisement

International Journal of Hematology

, Volume 103, Issue 1, pp 112–114 | Cite as

ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan

  • Fumika Ikeda
  • Tsutomu Toki
  • Rika Kanezaki
  • Kiminori Terui
  • Kenichi Yoshida
  • Hitoshi Kanno
  • Shouichi Ohga
  • Akira Ohara
  • Seiji Kojima
  • Seishi Ogawa
  • Etsuro ItoEmail author
Letter to the Editor

Alcohol aldehyde dehydrogenase 2 (ALDH2) is one of several enzymes that catalyzes the dehydrogenization of aldehydes. ALDH2 deficiency resulting from a Glu504Lys substitution (rs671, c.1510G>A) is prevalent in the Japanese population. ALDH2 is strongly suppressed in the presence of the dominant-negative A allele (Lys504).

Recently, Hira et al. showed that the A allele causes accelerated progression of bone marrow failure and malformations in Japanese Fanconi anemia (FA) patients [1].

However, the pathological significance of ALDH2 polymorphisms on other inherited bone marrow failure syndromes (IBMFS) remains unknown.

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) characterized by red blood cell aplasia, generally presenting in infancy, sometimes with various malformations [2, 3]. More than 50 % of DBA patients possess heterozygous mutations in 1 of 15 genes encoding ribosomal proteins (RP), and rare X-linked DBA families have shown to have GATA1...

Keywords

Aplastic Anemia Fanconi Anemia Ribosomal Protein Gene GATA1 Mutation Physical Anomaly 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

This work was supported by the Health and Labor Sciences Research Grants for Intractable Diseases from the Ministry of Health, Labor and Welfare of Japan (H26-NANCHITOU(NAN)-IPPAN-029), and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED) (15ek0109133h0001).

References

  1. 1.
    Hira A, Yabe H, Yoshida K, Okuno Y, Shiraishi Y, Chiba K, et al. Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood. 2013;122:3206–9.PubMedPubMedCentralCrossRefGoogle Scholar
  2. 2.
    Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142:859–76.PubMedPubMedCentralCrossRefGoogle Scholar
  3. 3.
    Ito E, Konno Y, Toki T, Terui K. Molecular pathogenesis in Diamond-Blackfan anemia (review). Int J Hematol. 2010;92:413–8.PubMedCrossRefGoogle Scholar
  4. 4.
    Kawashima N, Narita A, Wang X, Xu Y, Sakaguchi H, Doisaki S, et al. Aldehyde dehydrogenase-2 polymorphism contributes to the progression of bone marrow failure in children with idiopathic aplastic anaemia. Br J Haematol. 2015;168:460–3.PubMedCrossRefGoogle Scholar
  5. 5.
    Ludwig LS, Gazda HT, Eng JC, Eichhorn SW, Thiru P, Ghazvinian R, et al. Altered translation of GATA1 in Diamond-Blackfan anemia. Nat Med. 2014;20:748–53.PubMedPubMedCentralCrossRefGoogle Scholar

Copyright information

© The Japanese Society of Hematology 2015

Authors and Affiliations

  • Fumika Ikeda
    • 1
  • Tsutomu Toki
    • 1
  • Rika Kanezaki
    • 1
  • Kiminori Terui
    • 1
  • Kenichi Yoshida
    • 2
  • Hitoshi Kanno
    • 3
  • Shouichi Ohga
    • 4
  • Akira Ohara
    • 5
  • Seiji Kojima
    • 6
  • Seishi Ogawa
    • 2
  • Etsuro Ito
    • 1
    Email author
  1. 1.Department of PediatricsHirosaki University Graduate School of MedicineHirosakiJapan
  2. 2.Department of Pathology and Tumor Biology, Graduate School of MedicineKyoto UniversityKyotoJapan
  3. 3.Department of Transfusion Medicine and Cell ProcessingTokyo Women’s Medical University TokyoTokyoJapan
  4. 4.Department of PediatricsYamaguchi University Graduate School of MedicineUbeJapan
  5. 5.Department of Transfusion, Omori HospitalToho UniversityTokyoJapan
  6. 6.Department of PediatricsNagoya University Graduate School of MedicineNagoyaJapan

Personalised recommendations