The beta + IVS, I-NT no. 6 (T --> C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta.

doi:10.1111/j.1365-2141.1993.tb04710.x

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Article

The beta + IVS, I-NT no. 6 (T --> C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta.

British journal of haematology - 1 Apr 1993

Scerri C A, Abela W, Galdies R, Pizzuto M, Grech J L, Felice A E

Abstract excerpt

In vitro DNA amplification and dot blot analysis with synthetic allele specific oligonucleotides (ASO) identified the beta + IVS, I-6 (T --> C) thalassaemia in 78% of 32 chromosomes from 16 beta-thalassaemia homozygotes in Malta. The preponderance of a single thalassaemia mutation in one population is unusual. The beta + IVS, I-6C thalassaemia mutation was also found in three carriers who had an associated beta...

Topics

Adolescent
Adult
Child
Erythrocyte Indices
Hemoglobin A2
Hemoglobin, Sickle
Hemoglobins, Abnormal
Heterozygote
Homozygote
Humans
Mutation

beta-Thalassemia

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