What does pelger-Huet indicate?

Pelger-Huet anomaly (PHA) is an inherited blood condition in which the nuclei of several types of white blood cells (neutrophils and eosinophils) have unusual shape (bilobed, peanut or dumbbell-shaped instead of the normal trilobed shape) and unusual structure (coarse and lumpy).

What causes Pelger-Huet anomaly?

The Pelger-Huët anomaly (PHA) is a recognized morphologic variant affecting all granulocytes but is most evident in polymorphonuclear neutrophils (PMNs). PHA is caused by a decreased amount of the lamin B receptor (LBR). Recognition of PHA morphologic features serves as a marker for mutations in the LBR gene.

What is the difference between pelger-Huet and pseudo pelger-Huet?

Pelger-Huet anomaly is an autosomal dominant benign disorder, while Pseudo-Pelger-Huet anomaly (PHA) is an acquired disease. The presence of PHA cells on a blood film may reflect an underlying myeloproliferative disease (classically CML) or myelofibrosis, and should trigger prompt investigations.

What is pseudo pelger-Huet?

Pseudo Pelger-Huet cells are acquired abnormalities commonly seen in hematology/oncology practice and are markers of underlying disorders, such as myelodys-plasia, myeloproliferative disease including acute leukemia, certain drugs, and occasional acute infections.

When are Dohle bodies seen?

Döhle bodies are single or multiple blue cytoplasmic inclusions that are remnants of rough endoplasmic reticulum. They are associated with myeloid left shifts and are seen in conjunction with toxic granulation.

What is toxic granulation?

Toxic granulation is the term used to describe an increase in staining density and possibly number of granules that occurs regularly with bacterial infection and often with other causes of inflammation (Fig. 5.75). It can also be a feature of administration of granulocyte colony-stimulating factor.

What do Döhle bodies indicate?

The presence of Döhle bodies, nuclear immaturity, “toxic” cytoplasmic granulation, and giant platelets may indicate, at least in some measure, a general metabolic disturbance of the hematopoietic system.

What does presence of Döhle bodies mean?

Döhle bodies are intra-cytoplasmic structures composed of agglutinated ribosomes; they will increase in number with inflammation and increased granulocytopoiesis. If there are many neutrophils in the bloodstream containing Döhle bodies, these can be referred to as toxic neutrophils.

What are the symptoms of toxic granulation?

Toxic granulation is manifested by the presence of large granules in the cytoplasm of segmented and band neutrophils in the peripheral blood. The color of these granules can range from dark purplish blue to an almost red appearance.

What are the Pelger Huet anomaly symptoms?

Pelger Huet Anomaly Symptoms. According to the Human Phenotype Ontology, mostly people show symptoms due to abnormal chromosome aggregation. Some individuals have abnormality of dentition, abnormal teeth, dental problem, depressed nasal bridge due to low nasal root or flat bridge of nose, eczema and failed to lose weight rapidly.

What is the pathophysiology of Pelger-Huet anomaly?

Pelger-Huet anomaly is caused by a mutation of the lamin B receptor (LBR) gene located on subband 1q42.1 5). Pelger-Huet anomaly is inherited in a highly penetrant, autosomal dominant pattern.

What is the prevalence of Pelger Huet anomaly in the UK?

The prevalence rate of heterozygous Pelger-Huet anomaly is 1 case in 6000 population in the United Kingdom. The highest described incidence is in the Gelenau region of Germany (1.01%) and the Vasterbotten region of Sweden (0.6%) 4).

How is Pelger–Huët anomaly identified and differentiated from bandemia?

Identifying Pelger–Huët anomaly is important to differentiate from bandemia with a left-shifted peripheral blood smear and neutrophilic band forms and from an increase in young neutrophilic forms that can be observed in association with infection.