First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia.

ABSTRACT:

Background

Low HbA₂ level is an underlying of δ-thalassemia, α-thalassemia, and IDA. Interactions of these disorders can generate a wide spectrum of phenotype, which will pose diagnostic conundrum for clinical assessment, carrier screening, and genetic counseling.

Methods

Subjects with HbA₂ levels below 2.0% with normal or reduced hematological parameters were recruited for further investigation. δ-globin gene mutations were identified by DNA sequencing of the HBD gene. Serum ferritin (SF) concentration was determined by the chemiluminescent microparticle immunoassay. The three common deletional α-thalassemia (--^SEA /αα, -α^3.7 /αα, and -α^4.2 /αα) were detected using Gap-PCR, detection of the point mutations in the three

SUBMITTER: Chen M 

PROVIDER: S-EPMC7676206 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature