Molecular characterization of HbH disease in the Cuban population |
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| Authors: | Gisela Martinez R Ferreira Ana Hernandez Anna Di Rienzo L Felicetti B Colombo |
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| Institution: | (1) Instituto Hematologia e Inmunologia, Apartado 8070, La Habana, Cuba;(2) Istituto di Biologia Cellulare, C.N.R., Via G. D. Romagnosi 18/A, I-00196 Roma, Italy |
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| Abstract: | Summary Molecular characterization of the  -thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with - and  -specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the –3.7 type I/--SEA genotype. Variations are observed in the size of the polymorphic fragments. |
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