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

ABSTRACT:

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 transplantat

SUBMITTER: Zhong L 

PROVIDER: S-EPMC12431735 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature