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Development of the simple-rapid diagnosis method of hemoglobinopathies, thalassemias and abnormal hemoglobins

Research Project

Project/Area Number 14572193
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Laboratory medicine
Research InstitutionKawasaki Medical School

Principal Investigator

HARANO Teruo  Kawasaki Medical School, Medicine, Associate professor, 医学部, 助教授 (60069028)

Co-Investigator(Kenkyū-buntansha) HARANO Keiko  Kawasaki University of Medical Welfare, Medical Professions, Associate professor, 医療技術学部, 助教授 (00069072)
Project Period (FY) 2002 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥3,200,000 (Direct Cost: ¥3,200,000)
Fiscal Year 2003: ¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 2002: ¥1,500,000 (Direct Cost: ¥1,500,000)
KeywordsHb Fukui[α 139(HC1)Lys→Asn] / Hb Turriff[α 99(G6)Lys→Glu] / β^E-gene haplotypes / Diagnosis of thalassemia / Automated Hb A_2 analyzer / SNaPshot method / Real Time PCR / Real time PCR法 / Hb Fukui / Hb Turriff / ミャンマー人 / タイ人 / 自動Hb A_2値測定HPLC / 異常ヘモグロビン / Hb構造解析 / グロビン遺伝子 / β-サラセミア変異体 / α-サラセミア変異体 / マラリア感染 / マラリア原虫
Research Abstract

The diagnosis and the simple-rapid diagnostic method for the abnormal hemoglobins(Hb) and thalassemias(thal) were discussed.
1.PCR-direct sequence analysis of DNAs from two Japanese identified to be a new abnormal Hb Fukui[α 139(HC1)Lys→Asn] with the mutation in the a 2 gene which is the same codon to Hb Hanamaki and Hb Tokoname, and Hb Turriff[α 99(G6)Lys→Glu] with the mutation in the α 1 gene.
2.The Myanmar β^E-gene was identified by PCR-RFLP, and among three haplotypes detected, the C type + --+ + + was characteristic for Myanmar.
3.After the CBC of 250 Thai subjects was determined, the Hb A_2 level was determined by an automated Hb A_2 analyzer, HLC-723G7. β-Thal was diagnosed by the ARMS and PCR-direct sequence methods, and α-thal done by the Gap method. The scattered grams of Hb A_2-MCV and Hb A_2-MCH resulting from these data, suggested that the β thal carriers have higher Hb A_2 level than 4% and lower MCV and MCH than the normal, and the α thal carriers lower level of Hb A_2, MCV and MCH than the normal, in which the α thal-1 cases were rather severe than the α-thal-2 cases.
4.The SNaPshot method was applied to the detection of abnormal Hbs and thals, and showed the possibility to find out many mutations at one reaction. Additionally, the application of the Real Time PCR method was useful for the diagnosis of β thal with the deletion of long region.

Report

(3 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • Research Products

    (34 results)

All Other

All Publications (34 results)

  • [Publications] Win, N., et al.: "A wider molecular spectrum of β-thalassaemia in Myanmar"Br.J.Heamatol.. 117. 988-992 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Aung Myint Than, et al.: "Hemoglobinopathies and malaria infection in Myanmar."Kawasaki Med.J.. 28. 9-15 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Naito, Y., et al.: "Hb Nishinomiya [Leu-Gly-Inserted between Codon 69(E13) and 70(E14) of β]: A Novel unstable hemoglobin with reduced oxygen"In.J.Hematol. 76. 146-148 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "A new hemoglobin variant, Hb Fukui[α139(HC1)α2Lys→Asn]"Hemoglobin. 27. 117-121 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "The mutation of Hb Turriff [α99(G6) Lys→Glu] is carried by the α1-globin gene in a Japanese (Hb turriff I)"Hemoglobin. 27. 123-127 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kanai, M., et al.: "Neonatal hyperbilirubinemia in Japanese analysis of the heme oxygenase-1 gene and fetal hemoglobin composition in"Pediatric Research. 54. 165-171 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "An automated Hb A2 analyzer, HLC-723G7, for diagnosis of β-thalassemia"Kawasaki Med.J.. 29. 1-7 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, K., et al.: "Haplotypes of the β^E-globin gene cluster found in Myanmar"Kawasaki Med.J.. 29. 9-16 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "An automated HbA2 analyzer, HLC-723G7, for diagnosis of thalassemias"Proceeding of the 22nd World congress of Pathology & Laboratory Medicine. 203-206 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sutcharitchan, P., et al.: "Evaluation of automated glycohemoglobin analyzer HLC-723G7 β-thalassemia analysis mode"Lab.Hematol.. 10. 32-37 (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kano, G., et al.: "An extremely severe case of Hb Bristol-Alesha presenting thalassemic hyperunstable hemoglobinopathy"Brit.J.Haematol.. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sato, S., et al.: "Pseudoreticulocytosis in a patient with Hemoglobin Koln due to autofluorescent erythrocytes enumerated as reticurocytes"Lab.Hematol.. (in press). (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Win, N., et al.: "A Wider nolecular spectrum of β-thalassemia in Myanmar."Br.J.Heamatol.. 117(4). 988-992 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Aung Myint Than., et al.: "Hemoglobinopathies and malaria infection in Myanmar."Kawasaki Med.J.. 28(1). 9-15 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Naito, Y., et al.: "Hb Nishinomiya[Leu-Gly-Inserted between Codon 69(E13) and 70(E14) of β] : A novel unstable hemoglobin with reduced oxygen affinity found in a patient with spherocytic hemolysis."Int.J.Hematol. 76(2). 146-148 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "A new hemoglobin variant, Hb Fukui[α139(HC1) α2Lys->Asn]."Hemoglobin. 27(2). 117-121 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "The mutation of Hb Turriff[α99(G6)Lys->Glu] is carried by the α1-globin gene in a Japanese(Hb Turriff I)."Hemoglobin. 2718219. 123-127 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kanai, M., et al.: "Neonatal hyperbilirubinemia in Japanese : analysis of the heme oxygenase-1 gene and fetal hemoglobin composition in cord blood."Pediatric Research. 54(2). 165-171 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "An automated Hb A_2 analyzer, HLC-723G7, for diagnosis of β-thalassemia."Kawasaki Med.J.. 29(1・2). 1-7 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "Haplotypes of the β^E-globin gene cluster found in Myanmar."Kawasaki Med.J.. 29(1.2). 9-16 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "An automated Hb A_2 analyzer, HLC-723G7, for diagnosis of thalassemias."Proceeding of the 22nd World congress of Pathology & Laboratory Medicine. 203-206 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sutcharitchan,, et al.: "Evaluation of automated glycohemoglobin analyzer HLC-723G7 β thalassemia analysis mode."Lab.Hematol.. 10(1). 32-37 (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sato, S., et al.: "Pseudoreticulocytosis in a patient with Hemoglobin Koln due to auto fluorescent erythrocytes enumerated as reticurocytes by Cell-Dyn 4000."Lab.Hematol.. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kano, G., et al.: "An extremely severe case of Hb Bristol-Alesha presenting thalassemic hyperunstable hemoglobinopathy."Brit.J.Haematol.. (in press). (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Harano, T., et al.: "A new hemoglobin variant, Hb Fukui [α139(HC1)α2Lys→Asn]"Hemoglobin. 27(2). 117-121 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Harano, T., et al.: "The mutation of Hb Turriff [α99(G6)Lys→Glu] is carried by the α1-globin gene and found in a Japanese (Hb Turriff I)"Hemoglobin. 27(2). 123-127 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Kanai, M., et al.: "Neonatal hyperbilirubinemia in Japanese : analysis of the heme oxygenase-1 gene and fetal hemoglobin composition in cord blood"Pediatric Research. 54(2). 165-171 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Harano, T., et al.: "An automated Hb A_2 analyzer, HLC-723G7, for diagnosis of β-thalassemia"Kawasaki Med.J.. 29(1・2). 1-7 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Harano, K., et al.: "Haplotype of the β^E-globin gene cluster found in Myanmar"Kawasaki Med.J.. 29(1・2). 9-16 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Harano, T., et al.: "An automated Hb A_2 analyzer, HLC-723G7, for diagnosis of beta-thalassemia"The 22^<nd> World Congress of Pathology & Laboratory Medicine. Abstract. 155-155 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Win, N., et al.: "A wider molecular spectrum of β-thalassemia in Myanmar"Br. J. Haematol. 117・4. 988-992 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Aung Myint Than et al.: "Hemoglobinopathies and malaria infection in Myanmar"Kawasaki Med. J.. 28・1. 9-15 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Harano, K., et al.: "Malaria parasites detected in Myanmar thalassemia patients"Kawasaki Med. J.. 28・1. 17-20 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Naito, Y., et al.: "Hb Nishinomiya [Leu-Gly-Inserted between Codons 69(E13)and 70(E14) of β] : A novel unstable hemoglobin with reduced oxygen affinity found in a patient with Spherocytic hemolysis"Int. J. Hematol. 76・2. 146-148 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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