• Lin Zhong, Wenhua Zhang, Kaihui Zhang, Chan Li, Xiao Mu, Yan Chu, Zhongtao Gai, and Haiyun Wei.
• Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan Children's Hospital, Jinan, Shandong, China.
• Medicine (Baltimore). 2024 Sep 6; 103 (36): e39358e39358.

RationaleFanconi 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 ConcernsThe 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.DiagnosesCompound 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.InterventionAfter diagnosis, the child received chemotherapy (Ara-C + Flu + Cy + ATG). Then, the hematopoietic stem cell transplantation and unrelated umbilical cord blood transfusion were performed.OutcomesThe child is recovering well and is in regular follow-up.Conclusion And LessonsThe 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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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