First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant

Blood Cells Mol Dis. 2023 Sep 29;104:102797. doi: 10.1016/j.bcmd.2023.102797. Online ahead of print.ABSTRACTHemoglobin Ernz (Hb Ernz) is a missense variant in β-globin caused by a Threonine to Asparagine substitution at the 123rd amino acid position and HBB c.371C > A in gene level. Hb Ernz has been classified as Uncertain Significance (VUS) by ACMG due to limited reports and the absence of any homozygote genotypes. In our study, we found eight cases of Hb Ernz by DNA sequencing of the β-globin gene during >20 years of Thalassemia Screening in individuals with borderline hematological parameters who were possible carriers of thalassemia or their spouses. We also report the first homozygote variant of Hb Ernz. Our findings suggest that the changes in hematological parameters observed in individuals with Hb Ernz are likely due to α-globin gene mutations rather than Hb Ernz itself. These findings support the reclassification of Hb Ernz as a benign variant in variant classification.PMID:37826942 | DOI:10.1016/j.bcmd.2023.102797

Source: Blood Cells, Molecules and Diseases - October 12, 2023 Category: Hematology Authors: Zohreh Shojaei Maryam Abiri Fatemeh Zafarghandi Motlagh Masoume Amini Samira Dabbagh Bagheri Sadaf Asnavandi Sedighe Asadi Hamideh Bagherian Sirous Zeinali Source Type: research