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First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant
Zohreh Shojaei1, Maryam Abiri2, Fatemeh Zafarghandi Motlagh1
1Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, 41 IRNA St., Vali Asr St., Tehran 1595645513, Iran.
Abstract:
Hemoglobin 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.
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