First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene

Abstract

In this report, we describe a prenatal case with cardiomegaly and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 22 weeks’ gestation. Fetal blood sampling revealed moderate anemia (Hb 7.4 g/dL) and increased Hb Bart’s (γ4) level (28.2%), indicative of Hb H (β4) disease. Molecular analysis of the family members revealed that the pregnant woman carried a heterozygous IVS-I-116 (A>G) (HBA2: c.96-2A>G) mutation of α2-globin gene, and the fetus was a compound heterozygote for IVS-I-116 and the Southeast Asian (– –^SEA) deletion. This is the first reported case of nondeletional Hb H disease caused by the IVS-I-116 (A>G) mutation associated with fetal anemia identified by ultrasound.

Keywords:

• α-Thalassemia (α-thal)
• fetal anemia
• nondeletional Hb H disease

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 a grant from the National Natural Science Foundation of China (NSFC) [81100435].