Mean corpuscular volume of heterozygotes for β-thalassemia correlates with the severity of mutations

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Abstract

The relationship between the degree of microcytosis and the type of mutation carried by β-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 β° mutations had an MCV below 67 fL, whereas all but a few β+ heterozygotes had MCVs above this cutpoint. Mean MCV of β° carriers was statistically significantly lower than those of β+ heterozygotes. The various β+ mutations were associated with significant differences in mean MCV values. In contrast, all the β° (null) mutations had virtually identical ranges of MCV. The results indicate that degree of reduction in MCV is directly related to the severity of the mutation. Deviations, in four cases, were associated with concurrent α gene rearrangements, whereas in three other cases, the MCV was not significantly affected by concurrent aα rearrangements. The MCV of β-thalassemia heterozygotes is a valuable parameter in planning strategies for rapid identification of mutations in populations with great mutational diversity. Its use can be particularly advantageous in the setting of prenatal diagnosis. The pattern of mean corpuscular hemoglobin (MCH) values was similar to the MCV pattern. However, our results suggest that MCH may be preferred for carrier detection in population screening. © 1992 by The American Society of Hematology.

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Rund, D., Filon, D., Strauss, N., Rachmilewitz, E. A., & Oppenheim, A. (1992). Mean corpuscular volume of heterozygotes for β-thalassemia correlates with the severity of mutations. Blood, 79(1), 238–243. https://doi.org/10.1182/blood.v79.1.238.bloodjournal791238

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