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D Rund, D Filon, N Strauss, EA Rachmilewitz and A Oppenheim
Department of Hematology, Hadassah University Hospital, Jerusalem, Israel.
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 all but a few beta(+)
heterozygotes had MCVs above this cutpoint. Mean MCV of beta(0) carriers
was statistically significantly lower than those of beta(+) heterozygotes.
The various beta(+) mutations were associated with significant differences
in mean MCV values. In contrast, all the beta(0) (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 alpha gene
rearrangements, whereas in three other cases, the MCV was not significantly
affected by concurrent alpha rearrangements. The MCV of beta-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.
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| Copyright © 1992 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
