Scientific Letters
Vol. 18 No. 1 (2026): Mediterranean Journal of Hematology and Infectious Diseases
Diagnostic Challenges of Hemoglobin (Hb) Hekinan with deletional a0-thalassemia and b0-thalassemia During Prenatal Screening for Fetal Hb E/β-Thalassemia Risk
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: September 1, 2026
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This report describes the hematological and molecular features of a previously undescribed interaction between hemoglobin (Hb) Hekinan (HBA1:c84G>T), deletional a0-thalassemia, and B0-thalassemia in a healthy pregnant woman with normal Hb level but low MCV.
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Citations
1. Srivorakun H, Singha K, Fucharoen G, Sanchaisuriya K, Fucharoen S. A large cohort of hemoglobin variants in Thailand: molecular epidemiological study and diagnostic consideration. PLoS One. 2014;9(9):e108365.
2. Wong P, Thanormrat P, Srithipayawan S, et al. Risk of a couple having a child with severe thalassemia syndrome, prevalence in lower northern Thailand. Southeast Asian J Trop Med Public Health. 2006;37(2):366-369.
3. Singha K, Srivorakun H, Fucharoen G, et al. Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α(0)-thalassemia: molecular and hematological features and differential diagnosis. Hemoglobin. 2013;37(1):37-47.
4. Harano T, Harano K, Imai N, Ueda S, Seki M. An electrophoretically silent hemoglobin variant, Hb Hekinan [alpha 27(B8)Glu----Asp] found in a Japanese. Hemoglobin. 1988;12(1):61-65.
5. Fucharoen S, Changtrakun Y, Ratanasiri T, Fucharoen G, Sanchaisuriya K. Complex interaction of Hb Hekinan [alpha27(B8) Glu-Asp] and Hb E [beta26(B8) Glu-Lys] with a deletional alpha-thalassemia 1 in a Thai family. Eur J Haematol. 2003;70(5):304-309.
6. Shih HC, Shih MC, Chang YC, Peng CT, Chang TJ, Chang JG. Hb Hekinan in a Taiwanese subject: a G-->T substitution at codon 27 of the alpha1-globin gene abolishes an HaeIII site. Hemoglobin. 2007;31(4):495-498.
7. Zhao W, Wilson JB, Webber BB, et al. Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene. Hemoglobin. 1990;14(6):627-635.
8. Panyasai S, Chantanaskulwong P, Permsripong N, Mokmued T. Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins. Libyan J Med. 2024;19(1):2406620.
9. Harteveld CL, Higgs DR. Alpha-thalassaemia. Orphanet J Rare Dis. 2010;5:13.
10. Chunpanich S, Ayukarn K, Sanchaisuriya K, Fucharoen G, Fucharoen S. Laboratory diagnosis of a compound heterozygosity for Hb Hekinan [alpha27(B8) Glu-Asp] and a deletional alpha-thalassaemia 2 in Thailand. Clin Lab Haematol. 2004;26(5):355-358.
11. Moi P, Paglietti E, Sanna A, et al. Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia. Blood. 1988;72(2):530-533.
12. Harthoorn-Lasthuizen EJ, Lindemans J, Langenhuijsen MM. Influence of iron deficiency anaemia on haemoglobin A2 levels: possible consequences for beta-thalassaemia screening. Scand J Clin Lab Invest. 1999;59(1):65-70.
13. Fucharoen S, Fucharoen G, Sanchaisuriya K, Pengjam Y. Molecular analysis of a thai beta-thalassaemia heterozygote with normal haemoglobin A2 level: implication for population screening. Ann Clin Biochem. 2002;39(Pt 1):44-49.
14. Ngiwsara L, Srisomsap C, Winichagoon P, Fucharoen S, Svasti J. Two cases of compound heterozygosity for Hb Hekinan [alpha27(B8)Glu-->Asp (alpha1)] and alpha-thalassemia in Thailand. Hemoglobin. 2004;28(2):145-150.
15. Theingi M, Ruengdit C, Punyamung M, Pornprasert S. Hemoglobin Hekinan II (HBA1:c.84G>T): an electrophoretically silent α-globin variant missed by routine screening in northern Thailand. Laboratory Medicine. 2026;57(3).
Ethics Approval
Complex interaction of hemoglobin (Hb) Hekinan with deletional a0-thalassemia and b0-thalassemia alleles in a pregnant woman at risk for having a fetus with Hb E/b-thalassemiaSupporting Agencies
This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.How to Cite
“Diagnostic Challenges of Hemoglobin (Hb) Hekinan with deletional a0-thalassemia and b0-thalassemia During Prenatal Screening for Fetal Hb E/β-Thalassemia Risk” (2026) Mediterranean Journal of Hematology and Infectious Diseases, 18(1), p. e2026064. doi:10.4084/MJHID.2026.064.
Copyright (c) 2026 Dr. Piyatida Chumnumsiriwath, Prissana Charoenporn, Sawichayaporn Jermnim, Pawanrat Suannum, Monthira Samaisombat, Dr. Akamon Tapprom, Dr. Rawisut Deoisares, Dr. Peerapon Wong
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
