English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

The rare hemoglobin (Hb) variant Hb Natal [α140(HC2)Tyr-Arg→0 ( HBA2 : c.423C&gt;A)], detected on the α2-globin gene, is characterized by a shortened polypeptide chain because of a premature stop codon formation in codon 140. Here, we report identification of the same genetic variation but in the corresponding position of the α1-globin gene, in a heterozygous state, in five members of a Greek family. All carriers of Hb Natal (αα Natal /αα) present with mild hematological and no clinical findings. This innocuous Hb variant was initially detected, in the context of the national prevention program for hemoglobinopathies, by high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Identification of the variant was performed by molecular analysis of the α-globin genes. This is the first description of a heterozygous Hb Natal in a Greek family, and the first description of this genetic variant on the  HBA1  gene, worldwide.

A New Hemoglobin Variant, Hb Natal ( HBA1 : c.423C>A), Found in a Greek Family