Ans after thorough research
Reading File
Finding Sources
Finding Sources
Reading File
Finding Sources
Searching Images
May-Hegglin anomaly Dohle bodies giant platelets neutrophil
Answer: Option 3 — May-Hegglin Anomaly
Why May-Hegglin Anomaly?
May-Hegglin anomaly is the classic autosomal dominant condition characterized by the triad:
| Feature | Detail |
|---|---|
| Giant platelets (megathrombocytes) | Markedly enlarged, sometimes the size of RBCs |
| Döhle-like bodies in granulocytes | Pale-blue cytoplasmic inclusions in neutrophils (and also eosinophils, basophils, monocytes); larger and more prominent than the Döhle bodies seen in infections |
| Thrombocytopenia | Present in some (but not all) patients |
"May-Hegglin is a rare autosomal-dominant condition involving the nonmuscle myosin heavy chain 9 gene (MYH9) linked to chromosome 22q12–13. The mutations appear to alter the assembly and stability of myosin..." — Henry's Clinical Diagnosis and Management by Laboratory Methods, p. 727
The blue staining of the inclusions is due to RNA (ribosomal remnants). Granulocyte function is normal.
Why Not the Others?
| Option | Inheritance | Key Feature | NOT the answer because... |
|---|---|---|---|
| Alder-Reilly Anomaly | Autosomal recessive | Dense azurophilic granulation in all WBCs (seen in mucopolysaccharidoses) | No large platelets; no Döhle bodies |
| Pelger-Huët Anomaly | Autosomal dominant | Bilobed/hyposegmented neutrophil nuclei ("pince-nez" shape); normal granules | No large platelets; no inclusions resembling Döhle bodies |
| Chédiak-Higashi Syndrome | Autosomal recessive | Giant lysosomal granules in all granulocytes; immunodeficiency; partial albinism | Recessive inheritance; giant granules, NOT Döhle-like bodies; no megathrombocytes |
MYH9-Related Disorder Spectrum
May-Hegglin is part of the MYH9-related disorder spectrum — all autosomal dominant, all from mutations in the nonmuscle myosin IIA heavy chain gene:
- May-Hegglin anomaly — giant platelets + Döhle-like inclusions
- Sebastian syndrome — giant platelets + leukocyte inclusions
- Fechtner syndrome — above + hearing loss + cataracts + nephritis
- Epstein syndrome — nephritis + deafness + megathrombocytopenia (no inclusions)
Correct Answer: 3 — May-Hegglin Anomaly
(Henry's Clinical Diagnosis and Management by Laboratory Methods, p. 727; Quick Compendium of Clinical Pathology 5th ed., Table 5.6)
This is a shared conversation. Sign in to Orris to start your own chat.