δ-Thalassemia with Complete Absence of Hb A₂ in a Chinese Family

Abstract

A Chinese family with δ-thalassemia (δ-thal) was found, in which the daughter is homozygous for δ-thal (HBD: c.-127T>C) with complete deficiency of Hb A₂ and the mother is a heterozygote with low level of Hb A₂. The father, however, is a heterozygote with a normal Hb A₂ value due to coinheritance of a β-thalassemia (β-thal). Although no abnormal clinical or hematological findings were noted in the individuals with δ-thal, one should keep in mind that β-thal can be missed during routine preliminary screening when β-thal and δ-thal coexist in a subject.

Keywords:

• β-Thalassemia (β-thal)
• δ-thalassemia (δ-thal)
• HBD gene
• mutation detection

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 National Natural Science Foundation of China [81571448] and Guangdong Provincial Department of Science and Technology Agency [2016A020215218].