Clinical characteristics, laboratory features and genetic profile of hemoglobin E (HBB:c.79 G > A)/β (nucleotide -28 A > G) (HBB:c.-78 A > G) -thalassemia subjects identified from community- and hospital-recruited cohorts

• Published in: Blood cells, molecules, & diseases Vol. 109; p. 102883
• Main Authors: Chumnumsiriwath, Piyatida, Charoenporn, Prissana, Jermnim, Sawichayaporn, Suannum, Pawanrat, Samaisombat, Monthira, Tapprom, Akamon, Deoisares, Rawisut, Wong, Peerapon
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2024
• Subjects: Adolescent; Adult; beta-Globins - genetics; beta-Thalassemia - blood; beta-Thalassemia - diagnosis; beta-Thalassemia - genetics; Blood Transfusion; Child; Child, Preschool; Cohort Studies; Community-recruited case study; Female; Hemoglobin E - genetics; Hemoglobin E/β-thalassemia; Hospitals; Humans; Mahidol severity score; Male; Middle Aged; Nucleotide -28 β-globin mutation; Thailand; Young Adult; α-Thalassemia coinheritance; Thailand; Community-recruited case study; Hemoglobin E/β-thalassemia; Nucleotide -28 β-globin mutation; α-Thalassemia coinheritance; Mahidol severity score
• ISSN: 1079-9796; 1096-0961; 1096-0961
• DOI: 10.1016/j.bcmd.2024.102883

Despite several existing laboratory-based studies of hemoglobin (Hb) E (HBB:c.79 G > A)/ β (nucleotide (NT) -28 A > G) (HBB:c.-78 A > G) -thalassemia, no reports have ever provided clinical severity information as well as dependency of blood transfusion. Previously, a comparative study of community- and hospital-recruited Hb E/β-thalassemia subjects was conducted in the lower northern Thailand between June 2020 and December 2021. A mobile medical team visited each community hospital on-site, collecting clinical severity parameters, and conducting Hb and DNA analyses. The control included Hb E/β-thalassemia patients undergoing transfusions. Subgroup study of adult Hb E/β (NT -28 A > G) -thalassemia subjects was subsequently conducted. Additional pediatric individuals were recruited from prenatal diagnosis databases. Twenty adult and nine pediatric subjects were enrolled; all were classified as having mild disease severity. Twenty-two individuals (75.9 %) were asymptomatic. Six adults (20.7 %) required blood transfusion. The mean Hb level of subjects without transfusion (23 [79.3 %]) was 10.77 ± 1.10 g/dL. Hb analysis revealed a distinct EFA pattern with low Hb F fraction. The positive impact of genetic modifiers could not be statistically demonstrated except rs7482144-XmnI. These findings could provide essential information for parents carrying fetuses with Hb E/β (NT -28 A > G) -thalassemia.