Abstract
A deletion-type (δbeta;deg;thalassemia with elevated production of fetal hemoglobin (Hb F) is described. The patient, homozygous for the disease, presented a clinical picture of βthalassemia intermedia. DNA analysis demonstrated that the deletion removed about 13 kb from the βglobin cluster, including part of δ and the complete β gene. The deletion appears to be identical to the previously described Sicilian deletion. Its presence in the homozygous state in a patient from Central Europe suggests that the deleted chromosome may be rather prevalent in that area.
Original language | English |
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Pages (from-to) | 39-51 |
Number of pages | 13 |
Journal | Hemoglobin |
Volume | 12 |
Issue number | 1 |
DOIs | |
State | Published - 1988 |