About 60-90% of these neutrophils are bi-lobed either with a thin filament between the lobes, or without the filament. In classic inherited PHA, cells are the size of mature neutrophils and have very clumped nuclear chromatin. 2 Because of this mutation, nuclear differentiation is impaired, resulting in white blood cells with fewer lobes or segments. This defect is responsible for the abnormal routing of the heterochromatin and nuclear lamins, proteins that control the shape of the nuclear membrane. Pelger-Huët anomaly is an autosomal dominant disorder caused by a mutation in the lamina B receptor (LBR) gene on band 1q42. In 1931, Huët, a Dutch pediatrician, identified this anomaly as an inherited condition. Pelger also noted that, in addition to hyposegmentation, there is an overly coarse clumping of nuclear chromatin. The term ‘pince-nez’ has also been used to describe this spectacle shaped appearance. He described neutrophils with dumbbell shaped, bi-lobed nuclei. The characteristic, morphologically abnormal neutrophils were first described by Dutch hematologist Pelger in 1928. PHA has been found in persons of all ethnic groups and equally in men and women. PHA is considered to be rare, affecting about 1 in 6000 people. Pelger-Huët anomaly (PHA), is a term familiar to medical laboratory professionals, but mostly from textbook images. The CBC results are shown in Table 1 below. However, the instrument flagged “Suspect, Left shift?” and a slide was made for review. CBC results were unremarkable, with the exception of a decreased platelet count. The order for a CBC/auto differential and was run on our Sysmex XN-3000. Health Literacy Online: A Guide for Simplifying the User Experience.A 73 year old African American female had a CBC ordered as part of routine pre-op testing before knee surgery. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. Washington, DC: The National Academies Press. National Academies of Sciences, Engineering, and Medicine. Improving newborn screening laboratory test ordering and result reporting using health information exchange. Reference: Data from the Newborn Screening Coding and Terminology Guide is available here. Reference: MedGen Data Downloads and FTPĭata from the National Library of Medicine's Newborn Screening Coding and Terminology Guide is used to note if a disease is included on Federal or State recommendations for newborn screening testing.Kohler S, Gargano M, Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217.ĭata from the National Center for Biotechnology Information's MedGen is used to provide genetic testing information available for a disease. Orphanet is an online database of rare diseases and orphan drugs. Reference: Access aggregated data from Orphanet at Orphadata.Reference: UMLS Vocabulary Standards and Mappings Downloadsĭata from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.The National Library of Medicine's Unified Medical Language System (UMLS) is used to classify and organize diseases and disease categories.
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