Identification of two novel β-globin gene mutations HBB: exon3del, HBB: c.-81A & gt;C

CONCLUSION: When the blood phenotype and clinical manifestations do not match the genotype, the presence of new mutants should be considered, and attention should be paid to further testing to avoid missing the diagnosis, which can help in clinical diagnosis and treatment, prenatal diagnosis and genetic counseling.PMID:37815396 | DOI:10.1080/16078454.2023.2265723

Source: Hematology - October 10, 2023 Category: Hematology Authors: YaXuan Cao JianMing Luo Source Type: research