Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia

Abstract EN

Severe congenital neutropenia (SCN) is a rare disease that involves a heterogeneous group of hereditary diseases.

Mutations in the HAX1 gene can cause an autosomal recessive form of SCN-characterized low blood neutrophil count from birth, increased susceptibility to recurrent and life-threatening infections, and preleukemia predisposition.

A 7-year-old boy was admitted due to life-threatening infections, mental retardation, and severe neutropenia.

He had early-onset bacterial infections, and his serial complete blood count showed persistent severe neutropenia.

One older sister and one older brother of the patient died at the age of 6 months and 5 months, respectively, because of severe infection.

Bone marrow analysis revealed a maturation arrest at the promyelocyte/myelocyte stage with few mature neutrophils.

In direct DNA sequencing analysis, we found a novel homozygous frameshift mutation (c.423_424insG, p.Gly143fs) in the HAX1 gene, confirming the diagnosis of SCN.

The patient was successfully treated with granulocyte colony-stimulating factor (G-CSF) and antibiotics.

A child with early-onset recurrent infections and neutropenia should be considered to be affected with SCN.

Genetic analysis is useful to confirm diagnosis.

Timely diagnosis and suitable treatment with G-CSF and antibiotics are important to prevent further complication.