HbAdrian (α1:c.251del, p.Leu84Argfs*19)—A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran
Round 1
Reviewer 1 Report
vThe authors of this paper describe a new small deletion present in the HbA1 gene which leads to a reduction of MCV and MCH values, normal HbA2 level absence of abnormal hemoglobin by CE. This case report demonstrates how a population molecular screening or the careful evaluation of hematological and electrophoretic parameters allows to signal new molecular defects of the globin genes
Author Response
Dear Reviewer,
Thanks for your helpful comments. The article is now edited based on your comments. Attached you can find the edited manuscript .
Sincerely Yours
Reviewer 2 Report
-review the english form for all document
-standardize gene nomenclature HBA1 or α1 gene
- Silent carrier is not correct, the proband has a microcytosis
-add mother hematological data, iron values?
- The potential impact of the new variant on the structure and function of Hb was investigated with bioinformatic the following software tools:
-methods must be explained
-why talk about other artocol (Mazandaran)?
-The potential impact of new variant on the structure and funtion of Hb should be investigated with
more than one bioinformatic software tools and they should add reference for them.e
Author Response
Dear Reviewer,
Thanks for your helpful comments. The article is now edited based on your comments. Attached you can find the edited manuscript and responses to your comments.
Sincerely Yours
Author Response File: 
Author Response.docx
Round 2
Reviewer 2 Report
with the revisions made the case report is suitable
