Abstract
The gene frequency of β-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive β-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the β-globin gene, and extends 3′ beyond the β-globin gene. In this report, we identify the 5′ and 3′ deletion endpoints and present a polymerase chain reaction (PCR) strategy for rapid DNA diagnosis of the Filipino β-thalassemia deletion.
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Waye, J.S., Eng, B., Hunt, J.A. et al. Filipino β-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis. Hum Genet 94, 530–532 (1994). https://doi.org/10.1007/BF00211021
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DOI: https://doi.org/10.1007/BF00211021