Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient.

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Article

Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient.

Haematologica - 1 Dec 2006

Giordano Piero C, Maatman R G H J, Niessen R W L M, van Delft Peter, Harteveld Cornelis L

Abstract excerpt

We describe the genotype/phenotype correlation in a 35 year old anemic female referred to our laboratory because a fast eluting minor fraction on HPLC, mild hemolysis and hematological parameters suggesting a Thalassemia trait, eventually in combination with iron depletion. Direct sequencing of the alpha globin genes revealed heterozygosity for HbJ-Meerut, a Glu-->Ala substitution at residue 120 not justifying...

Topics

Adult
Blood Protein Electrophoresis
Chromatography, High Pressure Liquid
False Negative Reactions
Female
Globins
Hemoglobin A2
Hemoglobin J
Hemoglobinometry
Heterozygote
Humans
India
Netherlands
Phenotype
beta-Thalassemia

Source

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PMID: 17194662

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