A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin.

doi:10.1038/358499a0

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Article

A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin.

Nature - 6 Aug 1992

Berry M, Grosveld F, Dillon N

Abstract excerpt

In normal humans the fetal stage-specific gamma-globin genes are silenced after birth and not expressed in the adult. Exceptions are seen in cases of hereditary persistence of fetal haemoglobin (HPFH). These are clinically important because the elevated levels of gamma-globin can alleviate beta-t...

Topics

Animals
Base Sequence
Fetal Hemoglobin
Fetus
Gene Expression Regulation
Globins
Greece
Hemoglobinopathies
Humans
Mice
Mice, Transgenic
Molecular Sequence Data
Mutation
Promoter Regions, Genetic
Transfection

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