A patient of german descent with (δbeta;deg;thalassemia carrying the sicilian type deletion of the δ and β globin genes

Pierre Hopmeier*, Amir Shenhav, Gad Glaser, Eliezer A. Rachmilewitz, Ariella Oppenheim

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)39-51
Number of pages13
JournalHemoglobin
Volume12
Issue number1
DOIs
StatePublished - 1988

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