Clinical Severity of β-Thalassemia Pediatric Patients in Myanmar

Abstract

β-Thalassemia (β-thal) is highly prevalent in Myanmar, but limited data are available on the molecular basis and the clinical manifestations in Myanmar patients. In this study, we investigated the clinical features and β-globin gene abnormalities in 15 homozygous β-thal and 60 Hb E (HBB: c.79G>A)/β-thal pediatric patients who attended Yangon Children Hospital, the biggest thalassemia day care unit center in Myanmar. Eight different β⁰-thal mutations were identified, with four accounting for 88.9% of alleles studied (excluding the Hb E variant). A genotype-phenotype correlation was found; all homozygous β⁰-thalassemias had severe clinical courses, whereas the highly variable disease severity was demonstrated among Hb E/β⁰-thal patients. Interactions of IVS-I-1 (G>T) (HBB: c0.92+1G>T) β⁰-thal with Hb E are associated with milder clinical symptoms. The number of mildly affected Hb E/β-thal patients was lower than expected, suggesting that there may be a considerable number of patients in the population who have either not been admitted to hospital or diagnosed with carrying the disease. Although the clinical severity in the Myanmar β-thal patients seems to be similar to that in other populations, the levels of hemoglobin (Hb) appears to be very low. These findings indicate the need for the improvement of patient management and the development of prevention and control programs for β-thal in Myanmar.

Keywords:

• Anemia
• β-thalassemia (β-thal)
• globin
• Hb E
• Myanmar
• pediatric patients

Acknowledgments

This research was conducted while the corresponding author was working at the Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Phutthamonthon, Nakhon Pathom, Thailand.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Mahidol University and the Research Chair Grant, National Science and Technology Development Agency (NSTDA), Thailand. This Special Issue on Thalassemia in Asia 2021 was partially supported by Project KY202002008 from the Ministry of Science & Technology of the People’s Republic of China through the Asian Thalassemia Training Center (ATTC) at Guangxi Medical University, Nanning, Guangxi, PRC.