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Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 6
103
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Short Communications

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family

ORCID Icon, , ORCID Icon, , , , , , , , & show all
Pages 351-354 | Received 07 Aug 2019, Accepted 09 Nov 2019, Published online: 12 Dec 2019
 

Abstract

We describe a novel deletion causing heterozygous εγδβ-thalassemia (εγδβ-thal) across three generations of a Greek family. The Greek deletion is about 72 kb in length, spanning from the hypersensitive site 4 (HS4) in the locus control region (LCR) to the 3' end of the β-globin gene, thus encompassing the entire β-globin gene cluster. The deletion caused severe but transient neonatal anemia and a non transfusion-dependent chronic hemolytic anemia state later in life, resembling mild β-thalassemia intermedia (β-TI) rather than β-thalassemia (β-thal) trait, as had been previously reported. Apart from the presentation of clinical and laboratory characteristics, the challenges involving clinical management are also discussed.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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