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Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Songdej, Duantida; Surapolchai, Pacharapan; Komwilaisak, Patcharee; Sripornsawan, Pornpun; Lauhasurayotin, Supanun; Teawtrakul, Nattiya; Rungjirajittranon, Tarinee; Tantiworawit, Adisak; Sinlapamongkolkul, Phakatip; Torcharus, Kitti; Sutcharitchan, Pranee; Pongtanakul, Bunchoo; Sirachainan, Nongnuch; Charoenkwan, Pimlak.
Afiliación
  • Songdej D; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Surapolchai P; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand.
  • Komwilaisak P; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
  • Sripornsawan P; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkla, Thailand.
  • Lauhasurayotin S; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Teawtrakul N; Division of Hematology, Department of Internal Medicine, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
  • Rungjirajittranon T; Division of Hematology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Tantiworawit A; Division of Hematology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
  • Sinlapamongkolkul P; Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
  • Torcharus K; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathum Thani, Thailand.
  • Sutcharitchan P; Division of Pediatric Hematology/Oncology, Department of Pediatrics, Phramongkutklao College of Medicine, Bangkok, Thailand.
  • Pongtanakul B; Division of Hematology, Department of Internal Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
  • Sirachainan N; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Charoenkwan P; Division of Hematology and Oncology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Ann Hematol ; 103(2): 385-393, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37996759
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esferocitosis Hereditaria / Eliptocitosis Hereditaria Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Ann Hematol Asunto de la revista: HEMATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esferocitosis Hereditaria / Eliptocitosis Hereditaria Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Ann Hematol Asunto de la revista: HEMATOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Alemania