Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia.

doi:10.1111/j.1365-2141.1994.tb04743.x

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Article

Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia.

British journal of haematology - 1 Feb 1994

Oron V, Filon D, Oppenheim A, Rund D

Abstract excerpt

A 3-year-old child was evaluated for beta-thalassaemia intermedia. Molecular characterization including beta-globin gene sequence analysis revealed heterozygosity for a single beta-thalassaemia mutation, IVSI nt1 (G-->A). In addition the patient was found to be homozygous for alpha-globin gene tr...

Topics

Blotting, Southern
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
Globins
Heterozygote
Homozygote
Humans
Male
Mutation
beta-Thalassemia

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