Inherited Qualitative Abnormalities

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