Homozygosity for the severe β(+)-thalassemia mutation [IVS-I-5 (G>C)] causes the phenotype of thalassemia trait: an extremely rare presentation.

doi:10.3109/03630269.2012.751395

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Article

Homozygosity for the severe β(+)-thalassemia mutation [IVS-I-5 (G>C)] causes the phenotype of thalassemia trait: an extremely rare presentation.

Hemoglobin - 1 Jan 2013

Bohara Vinaykumar, Raut Lalit, Badarkhe Girish, Roy Siddartha S, Chaudhuri Utpal

Abstract excerpt

The thalassemias are the most common single gene disorder known to mankind. The phenotype of thalassemia depends upon the underlying gene defect in addition to many modulating factors. As the literature describes, inheritance of a β(0) genotype in the homozygous state results in the development o...

Topics

Adolescent
Chromatography, High Pressure Liquid
Female
Fetal Hemoglobin
Hemoglobins
Homozygote
Humans
Male
Pedigree
Phenotype
Point Mutation
beta-Globins
beta-Thalassemia

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