Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report

Abstract

Unstable hemoglobin (Hb) variants are a rare cause of congenital hemolytic anemia. We describe a Chinese girl who presented with transfusion-dependent anemia in early infancy. Her diagnosis of Hb Calgary [β64(E8)Gly > Val; HBB:c.194G > T] was not made until molecular testing was performed at the age of 5 years. Our case highlights the importance of early genetic testing in order to make the diagnosis, which may not only be useful for patient management and family counseling, but also for avoiding further unnecessary investigative attempts.

Keywords:

• Hemoglobinopathies
• Hb Calgary
• hemolytic anemia
• unstable hemoglobin (Hb)

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This work was supported by the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088] and Guangdong Natural Science Foundation [2023A1515010402], Guangdong Province, People’s Republic of China.