Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report

Abstract

Homozygous or compound heterozygous mutations of the β-globin gene lead to β-thalassemia (β-thal) major (β-TM) or β-thal intermedia (β-TI), whereas heterozygotes usually show microcytosis with negligible or no hemolysis. Certain missense mutations in exon 3, however, produce unstable globins causing a dominant β-thal phenotype or hemolytic anemia in heterozygotes. Here we report a mutation in exon 3 of the β-globin gene, which results in an unstable globin (Hb Dieppe) [β127(H5)Gln→Arg; HBB: c.383A>G] with a dominant β-thal phenotype in two generations of a Chinese family. Physicians should be alerted to this mechanism of β-thal considering its relative rarity.

Keywords:

• β-Thalassemia intermedia (β-TI)
• Hb Dieppe
• hemoglobin (Hb) variant
• unstable Hb

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by the Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center, Guangzhou, Guangdong Province, People’s Republic of China [IP-2019–004].