Familial Pelger-Huet Anomaly.
Samir S Shah1, Rupali S Parikh1, Lakshmi P Vaswani1
1Laboratory, Bhatia Hospital, 2nd Floor, Tukaram Javji Road, Tardeo, Mumbai, 400007 India.
Pelger-Huet anomaly, a rare genetic condition, affects white blood cells. This case highlights familial Pelger-Huet anomaly in an Indian family, identified through characteristic granulocyte hypolobation.
Area of Science:
- Hematology
- Medical Genetics
Background:
- Pelger-Huet anomaly is an autosomal dominant disorder.
- It is characterized by abnormal segmentation of granulocyte nuclei, appearing bilobed or unsegmented.
Observation:
- A 46-year-old Indian woman presented with fever and showed extreme hypolobation of granulocytes on peripheral blood smear.
- 82% of her neutrophils exhibited bilobed or single monolobated nuclei, indicative of Pelgeroid changes.
Findings:
- Screening of family members revealed similar granulocyte abnormalities in the patient's mother, sisters, and son.
- The affected individuals, except for the brother, demonstrated consistent morphological changes in their granulocytes.
Implications:
- This case confirms the familial nature of Pelger-Huet anomaly within the studied Indian family.
- Early identification and genetic counseling are crucial for families with Pelger-Huet anomaly.
- Understanding the genetic transmission patterns aids in diagnosing and managing this rare hematological condition.
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