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Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry

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Abstract

Red blood cell (RBC) membrane disorders represent a significant category of hereditary hemolytic anemia; however, information from Southeast Asia is limited. We established a national registry aiming to characterize RBC membrane disorders and their molecular features in Thailand. A total of 100 patients (99 kindreds) diagnosed with RBC membrane disorders between 2011 and 2020 from seven university hospitals were enrolled. The most prevalent disorders observed were hereditary elliptocytosis (HE; n=33), hereditary pyropoikilocytosis (HPP; n=28), hereditary spherocytosis (HS; n=19), Southeast Asian ovalocytosis (SAO; n=10 of 9 kindreds), and two cases of homozygous SAO. The remaining cases were grouped as unclassified membrane disorder. Seventy-six patients (76%) were molecularly confirmed by PCR, direct DNA sequencing, or hi-throughput sequencing. The primary causative gene for HE and HPP was SPTB, accounting for 28 out of 29 studied alleles for HE and 56 of 56 studied alleles for HPP. In the case of HS, dominant sporadic mutations in the ANK1 gene (n=4) and SPTB gene (n=3) were identified as the underlying cause. Notably, the four most common variants causing HE and HPP were SPTB Providence (c.6055 T>C), SPTB Buffalo (c.6074 T>G), SPTB Chiang Mai (c.6224 A>G), and SPTB c.6171__82delins TGCCCAGCT. These recurrent SPTB mutations accounted for 79 out of 84 mutated SPTB alleles (94%). In summary, HE and hereditary HPP associated with recurrent SPTB mutations are the predominant types of RBC membrane disorders observed in Thailand. These findings have significant implications for the clinical management and future research of RBC membrane disorders in the region.

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Acknowledgements

This work was supported by the Thai Society of Hematology (TSH). Its contents are the authors’ sole responsibility and do not necessarily represent official TSH views.

Funding

This work was supported by the Thai Society of Hematology (TSH). Its contents are the authors’ sole responsibility and do not necessarily represent official TSH views.

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Authors and Affiliations

  1. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

    Duantida Songdej & Nongnuch Sirachainan

  2. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand

    Pacharapan Surapolchai & Phakatip Sinlapamongkolkul

  3. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand

    Patcharee Komwilaisak

  4. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkla, Thailand

    Pornpun Sripornsawan

  5. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand

    Supanun Lauhasurayotin

  6. Division of Hematology, Department of Internal Medicine, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand

    Nattiya Teawtrakul

  7. Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Tarinee Rungjirajittranon

  8. Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand

    Adisak Tantiworawit

  9. Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand

    Adisak Tantiworawit & Pimlak Charoenkwan

  10. Division of Pediatric Hematology/Oncology, Department of Pediatrics, Phramongkutklao College of Medicine, Bangkok, Thailand

    Kitti Torcharus

  11. Division of Hematology, Department of Internal Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand

    Pranee Sutcharitchan

  12. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand

    Bunchoo Pongtanakul

  13. Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, 110 Intawarorot road, Sriphum, Muang, Chiang Mai, 50200, Thailand

    Pimlak Charoenkwan

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  1. Duantida Songdej
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Contributions

D.S., P.S.U. and P.C. designed the study, designed the data collection form, and performed the statistical analysis, and wrote the first draft of the manuscript. All authors contributed to research design, interpretation of data, and gave critical comments. D.S., P.S.U., P.K., P.S.R., S.L., N.T., T.R., A.T., P.S.I., N.S. and P.C. collected clinical data. All authors approved the final version of the manuscript.

Corresponding author

Correspondence to Pimlak Charoenkwan.

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The requirement for informed consent from participants included in the study was waived because the study was a retrospective review, and patient information was deidentified.

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The original version of this article was revised: This article was originally published with the participating institutes was erroneously omitted. There was a typographical error in the years of data collection in the Abstract section (original 2010-2021, correction 2011-2020)

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Songdej, D., Surapolchai, P., Komwilaisak, P. et al. Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry. Ann Hematol 103, 385–393 (2024). https://doi.org/10.1007/s00277-023-05555-1

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