International Journal of Hematology

, Volume 82, Issue 2, pp 119–123 | Cite as

High Incidence of α-Thalassemia, Hemoglobin E, and Glucose-6-Phosphate Dehydrogenase Deficiency in Populations of Malaria-Endemic Southern Shan State, Myanmar

  • Aung Myint Than
  • Teruo Harano
  • Keiko Harano
  • Aye Aye Myint
  • Tetsuya Ogino
  • Shigeru Okadaa


Samples from 916 members of various ethnic groups from malaria-endemic southern Shan State, Myanmar, were analyzed for α-thalassemia (α-thal), β -thalassemia (β -thal), abnormal hemoglobin variants, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Of these subjects, 530 (57.9%) were found to have at least one of these red cell genetic disorders.The overall frequencies for the various red cell genetic disorders were as follows: α-thal, 37.5% (343/916); hemoglobin E (Hb-E), 20.3% (186/916); G6PD-Mahidol, 17.5% (160/916); and β-thal, 0.3% (3/916). The frequencies of combined disorders were 6.9% (63/ 916) for α-thal/Hb-E, 5.7% (52/916) for α-thal/G6PD-Mahidol, 2.8% (26/916) for Hb-E/G6PD-Mahidol, 1.1% (10/916) for α-thal/Hb-E/G6PD-Mahidol, and 0.1% (1/916) for α-thal/β-thal/G6PD-Mahidol. Of the various ethnic and non-ethnic groups, the Bamar population showed the highest frequencies of α-thal (56.9%, 177/311), Hb-E (28.3%, 88/311), and G6PD-Mahidol (21.2%, 66/311) (all duplicated and triplicated cases were included). In addition, 2 new mutations, an a gene triplication (/αααanti3.7; 0.2%, 2/916) and Hb-Neapolis (0.1%, 1/916), were detected. Our results showed that race was the dominant factor affecting the frequencies of red cell genetic disorders in malaria-endemic areas of Myanmar.

Key words

α-Thalassemia β-Thalassemia Hemoglobin E G6PD deficiency Myanmar 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Badens C, Martinez di Montemuros F, Thuret I, et al. Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population.Hematol J. 2000;1:264–268.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Weatherall DJ. Thalassemia in the next millennium: keynote address.Ann N Y Acad Sci. 1998;850:1–9.CrossRefGoogle Scholar
  3. 3.
    Iwai K, Hirono A, Matsuoka H, et al. Distribution of glucose-6- phosphate dehydrogenase mutations in Southeast Asia.Hum Genet. 2001;108:445–449.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Matsuoka H, Wang J, Hirai M, et al. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population.J Hum Genet. 2004;49:544–547.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.Lancet. 1990;336:834–837.CrossRefGoogle Scholar
  6. 6.
    Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of beta-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis.Br J Haematol. 1991;78:242–247.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Brown JM, Thein SL, Weatherall DJ, Mar KM. The spectrum of beta thalassaemia in Burma.Br J Haematol. 1992;81:574–578.CrossRefPubMedGoogle Scholar
  8. 8.
    Than AM, Harano T, Harano K, Okada S. Hemoglobinopathies and malaria infection in Myanmar.Kawasaki Med J. 2002;28:9–15.Google Scholar
  9. 9.
    Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex- PCR screen for common deletional determinants of α-thalassemia.Blood. 2000;95:360–362.PubMedGoogle Scholar
  10. 10.
    Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions.Br J Haematol.. 2000;108:295–299.CrossRefPubMedGoogle Scholar
  11. 11.
    Huang CS, Hung KL, Huang MJ, Li YC, Liu TH, Tang TK. Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants.Am J Hematol. 1996;51:19–25.CrossRefPubMedGoogle Scholar
  12. 12.
    Nuchprayoon I, Sanpavat S, Nuchprayoon S. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population.Hum Mutat. 2002;19:185.CrossRefPubMedGoogle Scholar
  13. 13.
    Ganczakowski M, Bowden DK, Maitland K, et al. Thalassaemia in Vanuatu, south-west Pacific: frequency and haematological pheno-types o f young children.Br J Haematol. 1995;89:485–495.CrossRefPubMedGoogle Scholar
  14. 14.
    Win N, Harano T, Harano K, et al. A wider molecular spectrum of beta-thalassaemia in Myanmar.Br J Haematol. 2002;117:988–992.CrossRefPubMedGoogle Scholar
  15. 15.
    Pagano L, Lacerra G, Camardella L, et al. Hemoglobin Neapolis, beta 126(H4)Val—Gly: a novel beta-chain variant associated with a mild beta-thalassemia phenotype and displaying anomalous stability features.Blood. 1991;78:3070–3075.PubMedGoogle Scholar
  16. 16.
    Huisman THJ, Carver MFH, Baysal E.A Syllabus of Thalassaemia Mutations Augusta, Ga: The Sickle Cell Anaemia Foundation; 1997.Google Scholar
  17. 17.
    de Silva S, Fisher CA, Premawardhena A, et al. Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group.Lancet. 2000;355:786–791.CrossRefPubMedGoogle Scholar
  18. 18.
    Kimura EM, Grignoli CR, Pinheiro VR, Costa FF, Sonati MF. Thalassemia intermedia as a result of heterozygosis for β0-thalassemia and αααanti-3.7/αα genotype in a Brazilian patient.Braz J Med Biol Res. 2003;36:699–701.CrossRefPubMedGoogle Scholar
  19. 19.
    De Angioletti M, Lacerra G, Sabato V, Carestia C. Beta+45 G → C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence.Br J Haematol. 2004;124:224–231.CrossRefPubMedGoogle Scholar

Copyright information

© The Japanese Society of Hematology 2005

Authors and Affiliations

  • Aung Myint Than
    • 1
  • Teruo Harano
    • 2
  • Keiko Harano
    • 2
  • Aye Aye Myint
    • 3
  • Tetsuya Ogino
    • 1
  • Shigeru Okadaa
    • 1
  1. 1.Department of Pathological Research, Faculty of MedicineOkayama University Graduate School of Medicine and DentistryOkayamaJapan
  2. 2.Department of BiochemistryKawasaski Medical SchoolKurashikiJapan
  3. 3.Department of PathologyUniversity of Medicine IIYangonMyanmar

Personalised recommendations