Dataset Information

Familial Pelger-Huet Anomaly.

ABSTRACT: Pelger-Huet anomaly is usually autosomal dominant, although it is likely that new mutations are common. This condition is characterized by granulocytes that are either bilobed or completely unsegmented. Here is a report of a 46 year old Indian lady who presented with fever to the hospital and on evaluation, her peripheral blood smear showed extreme hypolobation of granulocytes. Along with normal appearing neutrophils there were many neutrophils with bilobed and single monolobated nuclei which accounted for 82 % of the neutrophils. After identifying these neutrophilic abnormalities which were suggestive of Pelgeroid changes, the other family members were also screened and were found to be having similar morphologic abnormalities in granulocytes. As these changes were evident in granulocytic leucocytes of the patient as well as her mother, both her sisters and her son, with exception of her brother, the diagnosis of familial Pelger-Huet Anomaly was considered in this case.

SUBMITTER: Shah SS

PROVIDER: S-EPMC4925487 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Familial Pelger-Huet Anomaly.

Shah Samir S SS Parikh Rupali S RS Vaswani Lakshmi P LP Divkar Rajeshree R

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 20150125 Suppl 1

Pelger-Huet anomaly is usually autosomal dominant, although it is likely that new mutations are common. This condition is characterized by granulocytes that are either bilobed or completely unsegmented. Here is a report of a 46 year old Indian lady who presented with fever to the hospital and on evaluation, her peripheral blood smear showed extreme hypolobation of granulocytes. Along with normal appearing neutrophils there were many neutrophils with bilobed and single monolobated nuclei which ac ...[more]

PMID: 27408433

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Project description:PurposeThe potential for malicious use of radiation, or radiation accidents could potentially lead to acute, high radiation doses to the public. Following acute accidental exposure to high doses of radiation, medical intervention is pivotal to the survivability of the patient, and the sooner the appropriate measures are taken the better the odds for survival. Early estimates of acute accidental radiation doses can be determined via biomarkers such as dicentric chromosome analysis or scenario reconstruction using computer software. However, both take valuable time and can be expensive. Increased frequencies of abnormal neutrophils in peripheral blood, referred to as pseudo Pelger-Huët anomalies (PPHAs), have been shown to be potential biomarkers of radiation exposure in several scenarios, including the 1958 Y-12 criticality accident and the radium dial painters. PPHAs are potentially a faster and cheaper quantitative biomarker for radiation exposure, and here they were evaluated in acutely exposed rhesus macaques.Methods and materialsPeripheral blood smears from acutely exposed rhesus macaques were evaluated for the percentage of neutrophils that displayed the PPHA morphology using light microscopy. Irradiated animals received 0 to 8.5 Gy total body radiation using one of two strategies: (1) linear accelerator-produced 6 MV photons delivered at 80 cGy/minute; or (2) Cobalt 60-produced gamma irradiation delivered at 60 cGy/min. Zero dose animals were used to determine a baseline percentage of PPHAs, and blood smears taken periodically throughout the lifetime of exposed animals post-irradiation were used to determine the persistence and biokinetics of PPHAs.ResultsThe baseline prevalence of the PPHA in rhesus macaques was determined to be 0.58 ± 0.46%. The dose-response curve with doses ranging from 0 Gy to 8.5 Gy (LD90/30) displayed a strong positive correlation between PPHA percentage and acute radiation dose (R2 of 0.88 p = 3.62 × 10-22). Statistically significant differences were found when animals were separated into dose cohorts of 0, 4, 6.4-6.5, and 8-8.5 Gy. The biokinetics model utilized only 4 Gy exposures and blood smears taken periodically over 3.1 years post-irradiation. PPHA morphology increases quickly following irradiation and appears stable over 3.1 years post-irradiation.ConclusionPPHA morphology was confirmed to be present in rhesus macaques, a dose-response relationship was constructed, and it is stable over 3 years post-irradiation. This study demonstrates that PPHA analysis can be a fast and cheap method of biodosimetry. Future studies will work to determine the accuracy of dose determination and lower limits of detection.

Dataset Information

Familial Pelger-Huet Anomaly.

Publications

Familial Pelger-Huet Anomaly.

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