What is a Pelger-Huet anomaly?

What is a Pelger-Huet anomaly?

Overview. 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?

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 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.

Why is it important to recognize pelger-Huet?

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.

When do you see pelger Huet cells?

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.

What drugs cause pseudo pelger Huet?

Cotrimoxazole and immunosuppressants such as tacrolimus and mycophenolate mofetil can cause marked neutrophil hyposegmentation (pseudo-Pelger-Huët anomaly). This may often be indistinguishable from changes seen in MDS.

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 are Dohle bodies?

Döhle bodies are small, round or oval, pale blue–grey structures usually found at the periphery of the neutrophil. They consist of ribosomes and endoplasmic reticulum.

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.

Do smudge cells always mean leukemia?

While smudge cells are not diagnostic of CLL, it has been shown that, in newly diagnosed CLL, a larger percentage of smudge cells is a better prognostic factor. Patients with >30% smudge cells show longer times before requiring treatment and longer survival rates than patients with fewer smudge cells.

Which leukemia has smudge cells?

Chronic lymphocytic leukemia (CLL) is the most commonly encountered leukemia in the clinical laboratory. Cytoskeletal defects in CLL lymphocytes can result in the formation of up to 75% smudge cells (SCs) during blood film preparation.

When do Dohle bodies appear?