A 43-year-old male patient experienced sudden fainting for 6 h and presented with prolonged paleness. In April 2018, a 43-year-old male patient was admitted to our hospital after experiencing sudden fainting for 6 h and presenting with prolonged paleness. The patient was treated for skin ecchymosis at the age of nine. At that point, he was diagnosed with AA, and tests revealed pancytopenia. At that time, he received treatment with stanozolol and traditional Chinese medicine. In May 2012, a bone biopsy revealed a few megakaryocytes and a maturation deficiency without obvious abnormalities on flow cytometric immunophenotyping. Chromosomal analysis of bone marrow cells indicated a conventional karyotype (46, XY). Bone marrow CD34+ cells accounted for 0.02%; paroxysmal nocturnal hemoglobinuria (PNH) examination was negative; and the patient was positive for a TET2 gene mutation and negative for FANCA gene. The bone marrow biopsy did not show myelodysplastic syndrome, fluorescence in situ hybridization was negative, and the cytogenetic panel was normal. Six years later, the patient progressed to SAA. IBMFS high-throughput sequencing revealed that the patient carried mutations in three genes: BRIP1, TINF2, and TCIRG1. The patient’s family had no history of hematological diseases. The patient’s older brother, aged 45, carried BRIP1 and TINF2 mutations, and shared the same TINF2 variant as their mother. The blood count, bone marrow cytology, bone marrow biopsy, and small megakaryocyte enzyme labels were all normal. Bone marrow CD34+ cells accounted for 0.74% of all cells. Average telomere length was quantified using a telomere restriction fragment assay. The patient’s telomere was significantly shorter than that of his brother. In contrast, the telomere lengths of his mother and brother were normal compared to age-matched healthy controls. Physical examination revealed severe anemia without other abnormalities. Initial laboratory evaluation of peripheral blood revealed the following: White blood cell count: 2.22 × 109/L; red blood cell count: 1.56 × 1012/L; hemoglobin level, 59 g/L; and platelet (PLT) count, 8 × 109/L.