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Article

Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide.

Blood - 15 Jan 1998

Faustino P, Osório-Almeida L, Romão L, Barbot J, Fernandes B, Justiça B, Lavinha J

Abstract excerpt

We describe a dominantly inherited beta-thalassemia intermedia phenotype observed in a five-generation Portuguese family. Carriers are characterized by moderate anemia, hypochromia, microcytosis, elevated hemoglobin (Hb)A2 and HbF levels, splenomegaly, hepatomegaly, and inclusion bodies in peripheral red blood cells after splenectomy. The molecular basis of this condition is a small deletion within the 5'...

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PMID: 9427726

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Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide.PMID 9427726Read ↗

[Beta thalassemia: molecular pathogenesis and clinical variability].Semantic proximity Read ↗

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Thalassemia: genotypes and phenotypes.Semantic proximity Read ↗

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Unusually severe heterozygous beta-thalassemia: evidence for an interacting gene affecting globin translation.Semantic proximity Read ↗

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