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Genet. mol. biol ; 28(3): 394-396, July-Sept. 2005. ilus, tab
Article Dans Anglais | LILACS | ID: lil-416317

Résumé

We report the coexistence of Hb Camperdown [beta104 (G6) Arg -> Ser] and beta°-thalassemia [beta39 (Gln -> stop codon)] in a nine-month-old Brazilian boy. He had a relatively more severe hypochromic and microcytic anemia in comparison to his mother's beta-thalassemia trait. His Hb Camperdown heterozygous father was clinically and hematologically normal. To our knowledge, this is the first description of an association of beta°-thalassemia with Hb Camperdown.


Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Adulte , Adulte d'âge moyen , Hémoglobines , bêta-Thalassémie/génétique , Brésil , Réaction de polymérisation en chaîne , Polymorphisme génétique
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