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[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
Rinsho Ketsueki. 2018; 59(4):401-406.RK

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.

Authors+Show Affiliations

Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Gastroenterology, Department of Internal Medicine, Shinshu University School of Medicine.Division of Gastroenterology, Department of Internal Medicine, Shinshu University School of Medicine.Center for Medical Genetics, Shinshu University Hospital.Center for Medical Genetics, Shinshu University Hospital.Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine.Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine.Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine. Department of Biomedical Laboratory Science, Shinshu University School of Medicine.

Pub Type(s)

Case Reports
Journal Article

Language

jpn

PubMed ID

29743399

Citation

Kawakami, Toru, et al. "[Successful Treatment of X-linked Sideroblastic Anemia With ALAS2 R452H Mutation Using Vitamin B6]." [Rinsho Ketsueki] the Japanese Journal of Clinical Hematology, vol. 59, no. 4, 2018, pp. 401-406.
Kawakami T, Nakazawa H, Kawakami F, et al. [Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]. Rinsho Ketsueki. 2018;59(4):401-406.
Kawakami, T., Nakazawa, H., Kawakami, F., Matsuzawa, S., Sudo, Y., Sakai, H., Nishina, S., Senoo, N., Senoo, Y., Komatsu, M., Umemura, T., Yamaguchi, T., Kosho, T., Fujiwara, T., Harigae, H., & Ishida, F. (2018). [Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]. [Rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 59(4), 401-406. https://doi.org/10.11406/rinketsu.59.401
Kawakami T, et al. [Successful Treatment of X-linked Sideroblastic Anemia With ALAS2 R452H Mutation Using Vitamin B6]. Rinsho Ketsueki. 2018;59(4):401-406. PubMed PMID: 29743399.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]. AU - Kawakami,Toru, AU - Nakazawa,Hideyuki, AU - Kawakami,Fumihiro, AU - Matsuzawa,Shuji, AU - Sudo,Yuriko, AU - Sakai,Hitoshi, AU - Nishina,Sayaka, AU - Senoo,Noriko, AU - Senoo,Yasushi, AU - Komatsu,Michiharu, AU - Umemura,Takeji, AU - Yamaguchi,Tomomi, AU - Kosho,Tomoki, AU - Fujiwara,Tohru, AU - Harigae,Hideo, AU - Ishida,Fumihiro, PY - 2018/5/11/entrez PY - 2018/5/11/pubmed PY - 2019/7/6/medline KW - ALAS2 R452H KW - VitB6 KW - X-linked sideroblastic anemia SP - 401 EP - 406 JF - [Rinsho ketsueki] The Japanese journal of clinical hematology JO - Rinsho Ketsueki VL - 59 IS - 4 N2 - 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. SN - 0485-1439 UR - https://www.unboundmedicine.com/medline/citation/29743399/[Successful_treatment_of_X_linked_sideroblastic_anemia_with_ALAS2_R452H_mutation_using_vitamin_B6]_ DB - PRIME DP - Unbound Medicine ER -