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Article

Thalassemia intermedia as a result of heterozygosis for beta 0 -thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jun 2003

Kimura E M, Grignoli C R E, Pinheiro V R P, Costa F F, Sonati M F

Abstract excerpt

We report a case in which the interaction of heterozygosis for both the 0-IVS-II-1 (G->A) mutation and the alpha alpha alpha anti-3,7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the -thalassemia trait. Investigation of the alpha-globin...

Topics

Alleles
Child
Genotype
Globins
Heterozygote
Humans
Male
Mutation
Polymerase Chain Reaction
Severity of Illness Index
Thalassemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

beta-Thalassemia

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Identifiers

PMID: 12792697
DOI: 10.1590/s0100-879x2003000600003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-12792697-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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