| Abstract: | The Maldives is an archipelago of 407,660 people according to population census of 2014, made up of 20 atolls,
which has one of the highest prevalence of β-thalassemia worldwide. However, there is a dearth of studies
related to β-thalassemia in the Maldives; therefore, in this study, we aimed to investigate the genetic epide-
miology of β-thalassemia in Maldives. Blood samples were collected from 110,504 participants (1992–2015).
Hemoglobin and RBC indices were measured on automated hematology analyzers. The quantitation of he-
moglobin, HbA2, Hb F, and other abnormal Hb variants were assessed by HPLC. Molecular analysis was per-
formed for the most common mutations in Southeast Asia for only 874 individuals either heterozygous or
homozygous for these mutations using reverse dot blot hybridization. We screened 110,504 individuals for β-
thalassemia between 1992 and 2015, which is ~ 30% of the entire population. The β-thalassemia carrier fre-
quency was estimated to be 16.2%. Molecular diagnosis of 874 β-thalassemia carriers/major was performed for
the most common seven mutations in Southeast Asia; of these, 139 patients were diagnosed as β-thalassemia
major. This analysis showed that the most common mutations were IVS1 + 5G > C, (678; 77.6%), followed by
the CD 30 (136; 15.6%). The least frequent mutation was FS8/9, (1, 0.001%), followed by IVS1 + 1G > T and
CD15 (2; 0.2%). The frequency of β-thalassemia varies significantly among the 20 different atolls in Maldives.
This study is expected to improve genetic counseling, creating awareness, enhance premarital screening, and
customize the prevention and treatment strategies based on the needs of each atoll. |
