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Molecular characterization of HbH disease in the Cuban population

✍ Scribed by Gisela Martinez; R. Ferreira; Ana Hernandez; Anna Rienzo; L. Felicetti; B. Colombo


Book ID
104707057
Publisher
Springer
Year
1986
Tongue
English
Weight
347 KB
Volume
72
Category
Article
ISSN
0340-6717

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✦ Synopsis


Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the - alpha 3.7 type I/--SEA genotype. Variations are observed in the size of the zeta polymorphic fragments.


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Wilson disease (WD) in the Sardinian population has an approximate incidence of 1:7,000 live births. Mutation analysis of the WD gene in this population reported in our previous articles led us to the characterization of two common mutations and a group of 13 rare mutations accounting for the molecu