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.Mahidol University2024-11-092024-11-092024-01-01British Journal of Haematology (2024)00071048https://repository.li.mahidol.ac.th/handle/123456789/101954Haemoglobin (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.MedicineArticleSCOPUS10.1111/bjh.198692-s2.0-8520803909813652141