HBB and thalassemia: HBB F72S variant was previously classified as uncertain significance of pathogenicity in the ClinVar database and, however, several thalassemia cases with F72S variant was previously reported in the literature (35, 36) and in the LOVD database (case #000602036, https://databases.lovd.nl/shared/variants/000602036#00000017), which indicates it may be a recurrent HBB disease-causing variant.