AI Article Synopsis
- An isodicentric (X)(q13) is a rare chromosomal abnormality linked to increased ringed sideroblasts (RSs) in female patients with certain blood disorders.
- Researchers reported a case of a 66-year-old woman with refractory anemia and the idicXq13 abnormality, identifying a deletion of the ABCB7 gene, which plays a role in iron transport within mitochondria.
- The loss of ABCB7 on the active X-chromosome may contribute to the accumulation of iron around erythroblast nuclei, suggesting it is a key factor in the condition's complexity.
Article Abstract
An isodicentric (X)(q13) (idicXq13) is a rare, acquired chromosomal abnormality originated by deletion of the long arm from Xq13 (Xq13-qter), and is found in female patients with hematological disorders involving increased ringed sideroblasts (RSs), which are characterized by mitochondrial iron accumulation around the erythroblast nucleus. The cause of increased RSs in idicXq13 patients is not fully understood. Here, we report the case of a 66-year-old female presenting with refractory anemia with ringed sideroblasts (RARS), and idicXq13 on G-banded analysis. We identify the loss of the ABCB7 (ATP-binding cassette subfamily B member-7) gene, which is located on Xq13 and is involved in mitochondrial iron transport to the cytosol, by fluorescent in situ hybridization (FISH) analysis and the decreased expression level of ABCB7 mRNA in the patient's bone marrow cells. Further FISH analyses showed that the ABCB7 gene is lost only on the active X-chromosome, not on the inactive one. We suggest that loss of ABCB7 due to deletion of Xq13-qter at idicXq13 formation may have contributed to the increased RSs in this patient. These findings suggest that loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13.
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