Impact of HbE mutation on the clinical severity of HbH disease: A multicentre study from Thailand
Issued Date
2024-01-01
Resource Type
ISSN
00071048
eISSN
13652141
Scopus ID
2-s2.0-85208039098
Journal Title
British Journal of Haematology
Rights Holder(s)
SCOPUS
Bibliographic Citation
British Journal of Haematology (2024)
Suggested Citation
Songdej D., Teawtrakul N., Laoaroon N., Komvilaisak P., Sripornsawan P., Surapolchai P., Hantaweepant C., Tantiworawit A., Hantrakool S., Lauhasurayotin S., Torcharus K., Sutcharitchan P., Uaprasert N., Panrong K., Silpsamrit P., Meekaewkunchorn A., Charoenkwan P., Pongtanakul B. Impact of HbE mutation on the clinical severity of HbH disease: A multicentre study from Thailand. British Journal of Haematology (2024). doi:10.1111/bjh.19869 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/101954
Title
Impact of HbE mutation on the clinical severity of HbH disease: A multicentre study from Thailand
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
Srinagarind Hospital
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Queen Sirikit National Institute of Child Health
Phramongkutklao College of Medicine
Faculty of Medicine, Chulalongkorn University
Chiang Mai University
Faculty of Medicine, Chiang Mai University
Faculty of Medicine, Khon Kaen University
Faculty of Medicine, Prince of Songkla University
King Chulalongkorn Memorial Hospital
Srinagarind Hospital
Faculty of Medicine Ramathibodi Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Queen Sirikit National Institute of Child Health
Phramongkutklao College of Medicine
Faculty of Medicine, Chulalongkorn University
Chiang Mai University
Corresponding Author(s)
Other Contributor(s)
Abstract
Haemoglobin (Hb) H disease and HbH disease with co-inherited HbE mutation are the most prevalent forms of α-thalassaemia in Southeast Asia. Data were limited when comparing clinical phenotypes between these two patient groups. We conducted a Thai multicentre study and enrolled 588 patients [median (IQR) age 13.0 (6.7–20.3) years], including those with deletional HbH disease with (n = 47) and without (n = 187) co-inherited HbE mutation and non-deletional HbH disease with (n = 101) and without (n = 253) co-inherited HbE mutation. Patients with HbH disease with co-inherited HbE mutation suffered more severe manifestations than those without. This observation was more pronounced in patients with non-deletional HbH disease. A greater proportion of patients with non-deletional HbH disease with co-inherited HbE mutation (43.6%) eventually required regular transfusions compared to those without (30.4%, p = 0.019). Among those with non-deletional HbH disease who did not require regular transfusions, Hb levels were lower in patients with co-inherited HbE mutation [8.1 (7.2–8.6) vs. 8.8 (8.2–9.5) g/dL, p < 0.001]. Among patients requiring regular transfusions who underwent splenectomy, 11/12 patients with non-deletional HbH disease stopped transfusion compared with 1/3 in non-deletional HbH disease with co-inherited HbE mutation group (p = 0.024). These findings provide insights for the clinical monitoring and management of HbH disease in the region.