Around 5.2% of the global population carries abnormal hemoglobin genes. Each year, 300,000 to 500,000 children are born with severe hemoglobinopathies worldwide, with approximately 80% of these cases occurring in developing countries.
Reviewed by Lily Ramsey, LLMSep 5 2023 Thalassemia is the most common hereditary hemoglobinopathy and occurs in 4.4 out of every 10,000 live births. It is prevalent in Mediterranean coastal areas, Africa, the Middle East, Southeast Asia, and southern China.
Method: In this study, the researchers retrospectively analyzed 136,312 individuals who participated in the "Implementation Plan for the Free Gene Detection of Thalassemia in Ganzhou City ". 2. A total of 156 distinct thalassemia genotypes were identified, comprising 40 α-thalassemia genotypes, 42 β-thalassemia genotypes and 74 combined α-/β-thalassemia genotypes. 48 rare thalassemia mutations were identified, such as 5'UTR +43 to +40 , Chinese Gγ+0, --THAI, αfusion, -50 G > A, and Hb Phnom Penh.
Related Stories4. Next-Generation Sequencing techniques perform better than conventional thalassemia genetic screening methods, especially in identifying novel or rare thalassemia mutations. Limited by the low sensitivity of hematological analysis and the disadvantages of Polymerase chain reaction , a large number of novel or rare thalassemia variations would be missed or misdiagnosed using traditional screening methods. NGS is also a cost-effective tool for prenatal screening.
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