Successful treatment of X-linked sideroblastic anemia with <i>ALAS2</i> R452H mutation using vitamin B₆

• KAWAKAMI Toru

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• NAKAZAWA Hideyuki

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• KAWAKAMI Fumihiro

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• MATSUZAWA Shuji

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• SUDO Yuriko

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• SAKAI Hitoshi

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• NISHINA Sayaka

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• SENOO Noriko

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• SENOO Yasushi

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine

• KOMATSU Michiharu

  Division of Gastroenterology, Department of Internal Medicine, Shinshu University School of Medicine

• UMEMURA Takeji

  Division of Gastroenterology, Department of Internal Medicine, Shinshu University School of Medicine

• YAMAGUCHI Tomomi

  Center for Medical Genetics, Shinshu University Hospital

• KOSHO Tomoki

  Center for Medical Genetics, Shinshu University Hospital

• FUJIWARA Tohru

  Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine

• HARIGAE Hideo

  Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine

• ISHIDA Fumihiro

  Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine Department of Biomedical Laboratory Science, Shinshu University School of Medicine

Bibliographic Information

Other Title

• ビタミンB₆が著効した<i>ALAS2</i> R452H変異陽性X連鎖性鉄芽球性貧血
• 症例報告 第7回日本血液学会関東甲信越地方会 優秀演題 ビタミンB₆が著効したALAS2 R452H変異陽性X連鎖性鉄芽球性貧血
• ショウレイ ホウコク ダイ7カイ ニホン ケツエキ ガッカイ カントウ コウシンエツチホウカイ ユウシュウ エンダイ ビタミン B ₆ ガ チョコウシタ ALAS2 R452H ヘンイ ヨウセイ X レンサセイテツ ガキュウセイ ヒンケツ

Abstract

A 45-year-old man presented with fatigue and pain in the finger joints. Despite having a history of suspected sideroblastic anemia since the age of 18 years, he had not been followed up for years. Upon presentation, laboratory data revealed microcytic anemia and elevated serum ferritin levels. In addition, ringed sideroblasts were increased in the bone marrow. A liver biopsy revealed hemochromatosis and cirrhosis. Furthermore, genetic analysis revealed that he harbored the ALAS2 R452H mutation, leading to the diagnosis of X-linked sideroblastic anemia (XLSA). Accordingly, oral folate or vitamin (Vit) B₁₂ was administered, but his anemia did not respond. However, his hemoglobin level increased from 7 to 11 g/dl with an additional prescription of oral VitB₆, which facilitated the patient to undergo phlebotomy to ameliorate organ dysfunctions caused by iron overload. Previous research has revealed that ALAS2 R452 mutations confer poor responses to VitB₆ therapy. Hence, accrual of patients with an unexpectedly better response, which was observed in our case, may help elucidate the pathogenesis of and therapies for XLSA.

Journal

• Rinsho Ketsueki

  Rinsho Ketsueki 59 (4), 401-406, 2018

  The Japanese Society of Hematology

Keywords

• X-linked sideroblastic anemia
• <i>ALAS2</i> R452H
• VitB₆

Details

• CRID: 1390001205034922624
• NII Article ID: 130006733285
• NII Book ID: AN00252940
• DOI: 10.11406/rinketsu.59.401
• ISSN: 18820824
• ISSN: 04851439
• NDL BIB ID: 029037788
• PubMed: 29743399
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I029037788
• Web Site: https://search.jamas.or.jp/link/ui/2018265614
• Text Lang: ja
• Data Source:
  • JaLC
  • NDL
  • PubMed
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed