Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.

RATIONALE

Fanconi anemia (FA) is a hereditary disease caused by mutations in the genes involved in the DNA damage repair pathway. The FANCA gene is the most commonly pathogenic gene, accounting for more than 60% of all causative genes.

PATIENT CONCERNS

The clinical case is a 3-year-old boy showed mild anemia and scattered bleeding spots the size of a needle tip all over his body.

DIAGNOSES

Compound heterozygous mutation was identified in the FANCA gene in the FA case: c.1A > T from the father in exon 1; the deletion of chr16: 89857810-89858476 (exon13-14 del) from the mother; finally, the patient was diagnosed as Fanconi anemia.

INTERVENTION

After diagnosis, the child received chemotherapy (Ara-C + Flu + Cy + ATG). Then, the hematopoietic stem cell transplantation and unrelated umbilical cord blood transfusion were performed.

OUTCOMES

The child is recovering well and is in regular follow-up.

CONCLUSION AND LESSONS

The discovery of new mutations in the FANCA gene enriches the genetic profile of FA and helps clinicians to further understand this disease and guide genetic counseling and prenatal diagnosis. Whole-exome sequencing is a powerful tool for diagnosing FA.