[Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia].

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Article

[Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia].

Investigacion clinica - 1 Jun 2006

Bravo-Urquiola Martha, Arends Anabel, Montilla Silvia, Guevara-I José María, García Gloria, Alvarez Maritza, Castillo Omar

Abstract excerpt

The propositus is a two year old child with a severe hemolytic anemia and increased level of Hb F. The Hbs A, A2 and F were eluted and quantitated by cation exchange high-performance liquid chromatography (HPLC-CE). DNA was isolated from peripheral blood leukocytes by a salting-out extraction procedure. The beta globin gone was amplified and the presence of the beta thalassemia mutation was determined by PCR...

Topics

Black People
Child, Preschool
DNA Mutational Analysis
Female
Fetal Hemoglobin
Globins
Hemoglobin A
Hemoglobin A2
Heterozygote
Humans
Indians, North American

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Phenotype

Polymerase Chain Reaction

Sequence Deletion

Thalassemia

Trinidad and Tobago

Source

Open in PubMed

Identifiers

PMID: 16886779

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-16886779-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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