Abstract:
:High prevalence of hemoglobin (Hb) disorders mandates national programs for screening and genetic counseling in many countries. Increased Hb A2 levels are commonly associated with β-thalassemias, however, various disorders including alteration of δ chains may result in decreased production of Hb A2, thus hindering the diagnosis of β-thalassemias. The reported data reflect the experience of a large reference laboratory in the United States. In the current study, we have attempted to assess the prevalence and also tried to characterize the identified mutations in the HBD gene resulting in decreased Hb A2 levels. In our cohort, 1.6% of 6486 patients were found to have Hb A2 values of <1.9%. Bidirectional sequencing of the HBD gene demonstrated mutations in 20 cases (19.0% of the individuals with decreased Hb A2). In addition to the previously reported variants, one novel mutation (Hb A2-Utah or HBD: c.46T>C).
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Rets AV,Reading NS,Agarwal AMdoi
10.1080/03630269.2020.1831531subject
Has Abstractpub_date
2020-11-01 00:00:00pages
438-441issue
6eissn
0363-0269issn
1532-432Xjournal_volume
44pub_type
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