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HEMATOLOGY 1 > WBC ANOMALIES > Flashcards

WBC ANOMALIES Flashcards

1
Q

Niemann-Pick Disease (NPD) is caused by a deficiency in what enzyme?

A

Sphingomyelinase

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2
Q

Niemann-Pick Disease (NPD) inheritance pattern?

A

Autosomal recessive

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3
Q

Niemann-Pick Disease (NPD) is more common in which population?

A

Ashkenazi Jews

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4
Q

Niemann-Pick Disease (NPD) affects which organs significantly?

A

Spleen and liver

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5
Q

Characteristic cell in Niemann-Pick Disease (NPD)?

A

Pick’s cell (Foam cell)

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6
Q

Description of Pick’s cell cytoplasm?

A

Swollen by many small lipid droplets

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7
Q

Life expectancy in Niemann-Pick Disease (NPD)?

A

Often fatal by three years of age

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8
Q

Gaucher Disease is caused by a defect or deficiency in what enzyme?

A

β-glucocerebrosidase

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9
Q

Most common lipidosis?

A

Gaucher Disease

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10
Q

Inheritance pattern of Gaucher Disease?

A

Autosomal recessive

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11
Q

Characteristic cell in Gaucher Disease?

A

Gaucher Cell

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12
Q

Features of Gaucher Cell cytoplasm?

A

Distended by glucocerebrosides

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13
Q

Where is the Gaucher Cell typically found?

A

Bone marrow

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14
Q

Description of Gaucher Cell nucleus?

A

Small, eccentric nucleus

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15
Q

Conditions where pseudo-Gaucher cells may be encountered?

A

Thalassemia, chronic myeloid leukemia, acute lymphoblastic leukemia, Non-Hodgkin lymphoma, plasma cell neoplasms

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16
Q

Inheritance pattern of Chediak-Higashi syndrome?

A

Autosomal recessive

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17
Q

Key feature of Chediak-Higashi syndrome in phagocytes?

A

Large, abnormal cytoplasmic granules

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18
Q

Granules in phagocytes (granulocytes and monocytes) in Chediak-Higashi syndrome are positive for what enzyme?

A

Peroxidase

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19
Q

Granules in lymphocytes in Chediak-Higashi syndrome are positive or negative for peroxidase?

A

Peroxidase (-)

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20
Q

What type of organelles are abnormally large in Chediak-Higashi syndrome?

A

Lysosomes

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21
Q

Reason for partial albinism in Chediak-Higashi syndrome?

A

Abnormal packaging of melanosomes

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22
Q

Physical characteristics associated with partial albinism in Chediak-Higashi syndrome?

A

Silvery hair, pale skin, photophobia

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23
Q

Triad of symptoms in Wiskott-Aldrich Syndrome (WAS)?

A

Thrombocytopenia, Immunodeficiency, Eczema

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24
Q

Inheritance pattern of Wiskott-Aldrich Syndrome (WAS)?

A

X-linked recessive

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25
Q

What are the dysfunctional cells in Wiskott-Aldrich Syndrome (WAS)?

A

B cells, T cells, NK cells, neutrophils, and monocytes

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26
Q

Type of infections common in Wiskott-Aldrich Syndrome (WAS)?

A

Bacterial, viral, and fungal infections

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27
Q

Structural abnormalities in Wiskott-Aldrich thrombocytes?

A

Low number of dense granules and small size (microthrombocytes)

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28
Q

May-Hegglin Anomaly inheritance pattern?

A

Autosomal dominant

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29
Q

Key cytoplasmic feature of granulocytes and monocytes in May-Hegglin Anomaly?

A

Gray-blue spindle-shaped inclusions (Döhle body-like inclusions)

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30
Q

Hematologic findings in May-Hegglin Anomaly?

A

Leukopenia, variable thrombocytopenia, and giant platelets

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31
Q

Pelger-Huet Anomaly (PHA) is caused by a mutation in what gene?

A

Lamin β-receptor gene

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32
Q

Key function of lamin β-receptor protein?

A

Plays a major role in leukocyte nuclear shape changes during normal maturation

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33
Q

Characteristic nuclear shape in neutrophils with Pelger-Huet Anomaly?

A

Bilobed (spectacle-like ‘pince-nez’) or unilobed (round, ovoid, peanut-shaped)

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34
Q

Most common genetic disorder of WBCs?

A

Pelger-Huet Anomaly (PHA)

35
Q

Inheritance pattern of Pelger-Huet Anomaly?

A

Autosomal dominant

36
Q

Homozygous Pelger-Huet Anomaly neutrophil nuclei?

A

All neutrophils are round

37
Q

Heterozygous Pelger-Huet Anomaly neutrophil nuclei?

A

55% to 93% of neutrophils affected, showing a mixture of nuclear shapes

38
Q

Granulation pattern in neutrophils with true Pelger-Huet Anomaly?

A

Normal granulation

39
Q

Functional status of neutrophils in true Pelger-Huet Anomaly?

A

Function normally

40
Q

Another name for Acquired Pelger-Huet Anomaly?

A

Pseudo-Pelger-Huet Anomaly

41
Q

Characteristics of neutrophils in pseudo-Pelger-Huet Anomaly?

A

Hyposegmented and hypogranular

42
Q

Conditions associated with pseudo-Pelger-Huet cells?

A

Acute myeloid leukemia, chronic myeloproliferative neoplasms, myelodysplastic syndromes (MDS), HIV infection, tuberculosis, Mycoplasma pneumoniae, and severe bacterial infections

43
Q

Defining feature of hypersegmented neutrophils?

A

Nucleus with > 6 lobes

44
Q

Conditions associated with hypersegmented neutrophils?

A

Megaloblastic anemias, myelodysplastic syndromes, hereditary neutrophil hypersegmentation, myelokathexis

45
Q

Key feature of neutrophils in myelokathexis?

A

Hypersegmentation, hypercondensed chromatin, pyknotic changes

46
Q

Definition of myelokathexis?

A

Rare hereditary condition with normal granulocyte production but impaired release into the blood, leading to neutropenia

47
Q

Lupus Erythematosus (LE) Cell is typically what type of cell?

A

A neutrophil that has ingested the antibody-coated nucleus of another neutrophil or a homogenous, globular nuclear mass

48
Q

Primary condition associated with LE Cells?

A

Systemic lupus erythematosus (SLE)

49
Q

Other disorders where LE Cells may be found?

A

Comparable connective tissue disorders

50
Q

Tart Cell is typically what type of cell?

A

A monocyte that has ingested a whole lymphocyte or nucleus with identifiable nuclear chromatin

51
Q

Condition where Tart Cells may be observed?

A

Drug sensitivity

52
Q

Defining feature of Rieder Cell nucleus?

A

Notched, lobulated, cloverleaf-like

53
Q

Conditions where Rieder Cells may be found?

A

Chronic lymphocytic leukemia or artificially formed through blood film preparation

54
Q

Another name for Grape Cell?

A

Morula cell or Mott cell

55
Q

Grape Cell cytoplasm is filled with what structures?

A

Russell Bodies (antibodies and immunoglobulins)

56
Q

Disease associated with Grape Cells?

A

Multiple Myeloma (Plasma Cell Myeloma)

57
Q

Key diagnostic protein in Plasma Cell Myeloma?

A

Bence Jones Protein

58
Q

CRAB acronym in Plasma Cell Myeloma stands for?

A

Hypercalcemia, Renal insufficiency, Anemia, Bone lesions

59
Q

Defining feature of Hairy Cells?

A

Small lymphocytes with little cytoplasmic projections

60
Q

Hairy Cells test positive for which enzyme?

A

Tartrate resistant acid phosphatase (TRAP)

61
Q

Disease associated with Hairy Cells?

A

Hairy Cell Leukemia

62
Q

Which isoenzyme of acid phosphatase is abundant in Hairy Cells?

A

Isoenzyme 5

63
Q

Definitive histologic characteristic of Hodgkin’s Disease?

A

Presence of Reed-Sternberg cells

64
Q

Key features of Reed-Sternberg cells?

A

Large lymphoid cell with two nuclei, eosinophilic nucleoli, and abundant cytoplasm

65
Q

Flower cells are seen in what condition?

A

Adult T-cell leukemia

66
Q

Another name for Popcorn cells?

A

L and H cells

67
Q

Condition associated with Popcorn cells?

A

Nodular Lymphocyte Predominant Hodgkin’s Lymphoma (NLPHL)

68
Q

Characteristic feature of Sezary cells?

A

Cerebriform nucleus

69
Q

Disease associated with Sezary cells?

A

Mycosis Fungoides (a Non-Hodgkin’s Lymphoma)

70
Q

Toxic granulations are found in which type of cell?

A

Neutrophils

71
Q

Appearance of toxic granulations?

A

Dark-blue to black granules in the cytoplasm

72
Q

Conditions associated with toxic granulations?

A

Severe infections and chemical poisoning (e.g., lead poisoning)

73
Q

Appearance of Auer rods in cells?

A

Linear projections of primary granules

74
Q

Condition associated with Auer rods?

A

Certain types of acute Myelogenous Leukemia (AML)

75
Q

Defining feature of a Faggot cell?

A

Abnormal WBC with bundles of Auer rods in its cytoplasm

76
Q

Description of Dohle bodies?

A

Round or oval blue-staining cytoplasmic inclusions in neutrophils, arranged in parallel rows and consisting of ribosomal RNA

77
Q

Conditions associated with Dohle bodies?

A

Pregnancy, severe burns, aplastic anemia, scarlet fever, infectious diseases, and administration of toxic agents

78
Q

Additional feature associated with MHA inclusions?

A

Presence of giant platelets

79
Q

Dohle bodies vs. MHA inclusions: Size?

A

Dohle: small; MHA: larger

80
Q

Dohle bodies vs. MHA inclusions: Shape?

A

Dohle: round; MHA: spindle

81
Q

Dohle bodies vs. MHA inclusions: PAS reaction?

A

Dohle: positive; MHA: negative

82
Q

Dohle bodies vs. MHA inclusions: Content?

A

Dohle: rRNA; MHA: mRNA

83
Q

MHA inclusions unique feature?

A

Giant platelets

HEMATOLOGY 1 (27 decks)

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