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

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 periph...

Topics

Amino Acid Sequence
Female
Genes, Dominant
Globins
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
RNA, Messenger
beta-Thalassemia

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