Article
Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations.
Blood - 1 Jan 1992
Rund D, Filon D, Strauss N, Rachmilewitz E A, Oppenheim A
Abstract excerpt
The relationship between the degree of microcytosis and the type of mutation carried by beta-thalassemia heterozygotes was investigated. In 113 individuals, 18 different mutations were identified, correlated with mean corpuscular volume (MCV) values, and analyzed statistically. Overall, there was a wide range of MCV (56.3-87.3 fL). In almost all cases, carriers of beta(0) mutations had an MCV below 67 fL, whereas...
Topics
- Erythrocyte Indices
- Ethnicity
- Female
- Genetic Carrier Screening
- Globins
- Hemoglobin A2
- Heterozygote
- Humans
- Male
- Mutation
- Pedigree
- Regression Analysis