Inherited Qualitative Abnormalities

From MedLabWiki
Condition Genetics Affected Cells Morphology & Testing Effects
Pelger-Huet Autosomal dominant Neutrophils

All WBCs may be affected

Heterozygous
  • Bi-lobed, mature neutrophils

Homozygous

  • Round-to-oval nucleus without segmentation

All lineages are affected!

Asymptomatic
Alder-Reilly Autosomal recessive Neutrophils, lymphs, and monos
  • Neutrophilia with left shift
  • Dohle bodies
  • Toxic granulation in neuts
  • Large granules in lymphs and monos
Asymptomatic
May-Heggalin Autosomal dominant Granulocytes and monocytes only
  • Leukopenia with large basophilic inclusions in all granulocytes and monocytes
    • Dohle-like bodies
  • Variable thrombocytopenia
  • Giant platelets
Asymptomatic or mild bleeding disorders from thrombocytopenia
Chediak-Higashi Autosomal recessive All WBCs
  • Giant granules in all WBC types
Abnormal granule fusion causing large, mostly dysfunctional granules
  • Ineffective phagocytosis and bacterial destruction
  • Immunodeficiency
  • Bleeding issues (due to platelets)
  • Possible albinismUsually fatal
Chronic Granulomatous Disease X-linked or autosomal recessive Neutrophils Normal morphology or neutrophilia
  • Possible toxic changes due to bacterial infections

Testing

  • Nitroblue tetrazolium reduction test (unable to reduce substance from yellow -> blue)
  • Flow cytometry (probes for NADPH oxidase)
  • Genetic testing
  • Presence of granulomas in tissue
Inability to produce NADPH oxidase (reactive oxygen species)
  • can ingest, but not kill bacteria
  • recurring infections and formation of granulomas from trapped bacteria
    • rupture of granulomas can release bacteria and pus

Lymphocyte & Monocyte Disorders

Condition Genetics Affected Cells Morphology & Testing Effects
Gaucher Disease Monocytes and macrophages
  • Gaucher cells in BM
  • Anemia
  • Thrombocytopenia
Asymptomatic to profound neurological and cytoskeletal issues
  • Lipid storage disease
  • Defect in glycolipid metabolism
  • Unmetabolized lipids accumulate in macrophages
Niemann-Pick Disease Monocytes and macrophages
  • Niemann-Pick cells in BM
    • Foamy cytoplasm
    • Lipid-filled lysosomes (appear as vacuoles on stained BM)
Variety of effects and onset by type (A, B, or C)
  • Lipid storage disease
  • Defect in lipid metabolism and transport
  • Lipids accumulate in macrophages