Congenital Nonspherocytic Hemolytic Anemia Caused by Krüppel-Like Factor 1 Gene Variants: Another Case Report

Abstract

In this study, we report on a compound heterozygote for variants in the key erythroid transcription factor Krüppel-like factor 1 (KLF1) gene in a patient who presented with severe, transfusion-dependent hemolytic anemia. The red cells were normochromic and normocytic, and resembled those seen in patients with congenital nonspherocytic hemolytic anemia (CNSHA). Next generation sequencing (NGS) revealed that the patient was a compound heterozygote for the KLF1 frameshift variant c.519_525dup (p.Gly176ArgfsTer179) and a missense variant c.1012C>A (p.Pro338Thr). This report adds to the wide clinical spectrum of KLF1 gene variants. We suggest that loss of KLF1 should be considered in otherwise unexplained cases of congenital hemolytic anemia.

Keywords:

• Congenital hemolytic anemia
• Hb F
• Krüppel-like factor 1 (KLF1) gene
• congenital nonspherocytic hemolytic anemia (CNSHA)

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 Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center, Guangzhou, Guandong Province, People’s Republic of China [IP-2019-004].