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Globin chain synthesis analysis in obligate beta 0-thalassemia heterozygotes with isolated increase of hemoglobin A2 levels

Galanello, R.; Melis, M.A.; Furbetta, M.; Angius, A.; Scalas, M.T.; Paglietti, E.; Cao, A.

Nouvelle Revue Francaise d'Hematologie 23(4): 193-195

1981

ISSN/ISBN: 0029-4810
PMID: 7312613
Document Number: 177961
Globin chain synthesis analysis was carried out in 14 obligate beta 0-thalassemia heterozygotes, i.e., parents of children with thalassemia major or intermedia due to homozygous beta 0-thalassemia, with almost normal red blood cell indices and isolated increase of Hb A2 levels. alpha/beta globin chain synthesis ratios were almost balanced or slightly reduced (0.62-1.30). This finding suggests that these heterozygotes carry both alpha- and beta-thalassemia genes. However, alpha-globin structural gene mapping by restriction enzyme analysis must be carried out to confirm this explanation.

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