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

doi:10.3109/03630268808996881

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

Institute for Medical Research Israel-Canada (IMRIC)

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	39-51
Number of pages	13
Journal	Hemoglobin
Volume	12
Issue number	1
DOIs	https://doi.org/10.3109/03630268808996881
State	Published - 1988

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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.",

author = "Pierre Hopmeier and Amir Shenhav and Gad Glaser and Rachmilewitz, \{Eliezer A.\} and Ariella Oppenheim",

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AU - Rachmilewitz, Eliezer A.

AU - Oppenheim, Ariella

PY - 1988

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N2 - 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.

AB - 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.

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

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