Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry
Issued Date
2023-01-01
Resource Type
ISSN
09395555
eISSN
14320584
Scopus ID
2-s2.0-85177643668
Journal Title
Annals of Hematology
Rights Holder(s)
SCOPUS
Bibliographic Citation
Annals of Hematology (2023)
Suggested Citation
Songdej D., Surapolchai P., Komwilaisak P., Sripornsawan P., Lauhasurayotin S., Teawtrakul N., Rungjirajittranon T., Tantiworawit A., Sinlapamongkolkul P., Torcharus K., Sutcharitchan P., Pongtanakul B., Sirachainan N., Charoenkwan P. Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry. Annals of Hematology (2023). doi:10.1007/s00277-023-05555-1 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/91276
Title
Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry
Author's Affiliation
Siriraj Hospital
Faculty of Medicine, Chiang Mai University
Faculty of Medicine, Khon Kaen University
Faculty of Medicine, Prince of Songkla University
King Chulalongkorn Memorial Hospital
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Phramongkutklao College of Medicine
Faculty of Medicine, Chulalongkorn University
Faculty of Medicine, Chiang Mai University
Faculty of Medicine, Khon Kaen University
Faculty of Medicine, Prince of Songkla University
King Chulalongkorn Memorial Hospital
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Phramongkutklao College of Medicine
Faculty of Medicine, Chulalongkorn University
Other Contributor(s)
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 2010 and 2021 from six 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.