Submitting Novel Globin Gene Variants to Hemoglobin

Hemoglobin, vol. 47, pp. 135–136

Abstract

Submitting Novel Globin Gene Variants to HemoglobinIt is now customary to report genetic variants in genomewide and locus/disease-specific databases.Different databases have different features, which are quite useful to the scientific community.At present, HbVar (http://globin.bx.psu.edu/hbvar [1]; established in 2000, as a continuation of Titus Huisman's Syllabi for Hemoglobin Variants and Thalassemia mutations and IthaGenes (https://www.ithanet.eu/db/ithagenes [2] established in 2007, along with the recently released IthaPhen (https://www.ithanet.eu/db/ithaphen[3], are disease-specific databases for the documentation and annotation of variants in the globin gene clusters and their associated phenotype.HbVar encourages variants to be submitted to the database after being published in the literature [4].The advantage is that diagnostic support for a certain variant's pathogenicity is peer-reviewed and hematological data are available for consultation.This is to prevent some variants from ending up as personal communications without any supportive evidence.Nevertheless, after the publication of the micro-attribution approach in 2011, HbVar also welcomes submissions of novel variants even before they are published in the literature.In this case, the review of the supporting evidence is more stringent.The IthaGenes and ClinVar [5] policy is to encourage early submission of novel variants to enable early access to such knowledge, even if unpublished, as this may sometimes take years to be published or never happen.A working group of experts, recruited from HEMOGLOBIN's editorial board, has discussed this issue, and proposed the following structured way to present novel variants to

Authors 6

1. Cornelis L. Harteveld Aachen Department of Human and Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

2. George P. Patrinos

   University of Patras

   Affiliation as printed

   Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece

3. Joanne Traeger‐Synodinos

   National and Kapodistrian University of Athens

   Affiliation as printed

   Department of Medical Genetics, National and Kapodistrian University of Athens, Choremeio Research Laboratory, St. Sophia’s Children’s Hospital, Athens, Greece

4. Petros Kountouris

   Cyprus Institute of Neurology and Genetics

   Affiliation as printed

   Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

5. Celeste Bento

   Unidade Local de Saúde de Coimbra

   Affiliation as printed

   Department of Hematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

6. Adekunle D. Adekile corresponding

   Kuwait University

   Affiliation as printed

   Department of Pediatrics, Faculty of Medicine, Kuwait University