Published in:
02-02-2024 | Aplastic Anemia | Letter to the Editor
Loeys-Dietz syndrome with concomitant aplastic anemia
Published in: Annals of Hematology | Issue 5/2024
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An 18-year-old female, who had a 2-week complaint of generalized pruritus was referred to our clinic in March 2021. Her blood count showed white blood cells of 1.6 × 109/L, absolute neutrophil count 0.9 × 109/L, hemoglobin 70 g/L, and platelet 15 × 109/L. The diagnosis of aplastic anemia (AA) was established by pancytopenia and hypocellular bone marrow (Fig. 1A). The SMAD3 mutation (NM_005902;exon6;c.803G > A;p.R268H) with 53% variant allele frequency was detected by whole-exome sequencing (WES) and validated by Sanger sequencing. The patient’s parents did not carry the mutation (c.803G > A) (Fig. 1B).
Fig. 1
The whole process of diagnosis of the patient and the corresponding results. A Bone marrow smears showed hypocellular marrow and islands of non-hematopoietic cells (Wright-Giemsa staining). Bone marrow biopsy revealed bone marrow hypoplasia and adipocytes in the absence of neoplasia or reticulin fibrosis adipocytes (hematoxylin and eosin (HE) staining). B The mutation (c.803G > A, p.R268H) was found in SMAD3 in the patient. The same mutation was not found from her father and mother. C CTA results showed the V4 segment (blue arrows) of the right vertebral artery was tortuous, suggesting a right embryonic posterior cerebral artery. D The expression of SMAD3 in BMMNCs was significantly decreased in this patient compared to normal control by Western blot and relative decreased expression of SMAD3 mRNA by quantitative PCR. E Distribution of CD8+ T cell subsets including CD8+ effector T cells, naive T cells, and CD8+ mucosal-associated invariant T cells (CD8TMAIT) in the bone marrow of LDS_AA and AA patients. F KEGG significant enrichment analysis of the DEGs
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