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Octaploidy in idiopathic thrombocytopenic purpura
R N Makroo1, Mohit Chowdhry, Manoj Mishra
1Department of Tranplant Immunology, Molecular Biology and Transfusion Medicine, Apollo Hospitals, New Delhi, India.
Abstract:
We report a case of an elderly 68-year-old male who presented in our hospital with chief complaints of petechial rashes and ecchymosis over extremities and bleeding from the oral cavity since 3-4 days prior to hospitalization. He saw a physician before coming to our hospital and received one dose of IV methylprednisolone and oral wysolone. He had come to our hospital for further management. Bone marrow karyotyping was done and chromosomal analysis revealed two cell lines. Eighty percent of the cells analyzed revealed apparently normal male karyotype. However, 20% cells analyzed revealed a total of 184 chromosomes, suggesting octaploidy.
Insights
This case study highlights an elderly male with bleeding symptoms who was found to have octaploidy, a rare chromosomal abnormality, in 20% of his bone marrow cells. Further investigation is needed to understand this complex genetic finding.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Elderly male patient presented with petechial rashes, ecchymosis, and oral bleeding.
- Previous treatment included IV methylprednisolone and oral wysolone.
- Patient sought further management for his condition.
Observation:
- Bone marrow karyotyping was performed for diagnostic evaluation.
- Analysis revealed the presence of two distinct cell lines.
- The majority of cells (80%) exhibited a normal male karyotype.
Findings:
- A significant subpopulation of cells (20%) displayed an abnormal karyotype.
- These abnormal cells contained 184 chromosomes, indicating octaploidy.
- Octaploidy is a rare condition involving a fourfold increase in chromosome number.
Implications:
- This case presents a rare instance of octaploidy in an elderly patient with bleeding symptoms.
- The findings suggest a potential link between chromosomal abnormalities and hematological manifestations.
- Further research is warranted to elucidate the pathogenesis and clinical significance of octaploidy in this context.
