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HEMATOLOGY 1 > ANEMIA, PORPHYRIA, HEMOGLOBINOPATHIES, THALASSEMIA > Flashcards

ANEMIA, PORPHYRIA, HEMOGLOBINOPATHIES, THALASSEMIA Flashcards

1
Q

morphologic classification of anemia

A

normocytic normochromic anemia
microcytic hypochromic anemia
macrocytic normochromic anemia

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2
Q

normal or decreased reticulocyte count (3)

A

aplastic anemia
kidney diseases
acute blood loss

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3
Q

increased reticulocyte count

A

paroxysmal nocturnal hemoglobinuria
paroxysmal cold hemoglobinuria ( donath landsteiner hemolytic anemia)
sickle cell disease
enzyme deficiency (G6PD and PK deficiency)
other hemolytic anemia

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4
Q

described as a rare but potentially dead bone marrow failure syndrome

A

aplastic anemia

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5
Q

markedly decreased in the number of RBCs, WBCs, and platelets in the blood

A

pancytopenia

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6
Q

markedly increased in the number of RBCs, WBCs, and platelets in the blood

A

polycythemia vera

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7
Q

pancytopenia, reticulocytopenia, bonemarrow hypocellularity, depletion of hematopoietic stem cells, these are characteristics of what type of anemia

A

aplastic anemia

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8
Q

type of aplastic anemia ; approximately 80-85% of plastic anemia cases

A

acquired aplastic anemia

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9
Q

type of acquired aplastic anemia with no known cause

A

idiopathic acquired aplastic anemia

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10
Q

type of acquired aplastic anemia associated with an identified cause

A

secondary acquired aplastic anemia

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11
Q

a drug most frequently implicated in acquired aplastic anemia

A

chlorampenicol

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12
Q

insecticide, benzene, epstein-barr virus, and chlorampenicol can cause what type of aplastic anemia

A

secondary acquired aplastic anemia

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13
Q

type of aplastic anemia approximately 15% to 20% cases

A

inherited aplastic anemia

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14
Q

Dyskeratosis congenita
Schwachman-Bodiam Diamomd syndrome
Fanconi Anemia

these are diseases associated with what type of aplastic anemia

A

inherited aplastic anemia

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15
Q

most common of the inherited aplastic anemia

A

fanconi anemia

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16
Q

a type of inherited aplastic anemia with a chromosome instability disorder

A

fanconi anemia

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17
Q

a type of inherited aplastic anemia characterized by aplastic anemia, cancer susceptibility, and physical abnormalities

A

fanconi anemia

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18
Q

paroxysmal nocturnal hemoglobinuria is also known as

A

Marchiafava- Micheli syndrome

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19
Q

examples of compplement regulatory proteins for PNH

A

DAF (Decay-accelerating factor of CD55)
MIRL (membrane inhibitor of reactive lysis, or CD59)

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20
Q

TESTS FOR PNH

A

HAM’S ACIDIFIED SERUM TEST
SUGAR WATER TEST (SUCROSE HEMOLYSIS TEST)
FLOW CYTOMETRY (using FLAER)

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21
Q

Confirmatory test for PNH

A

FLOW CYTOMETRY USING FLAER

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22
Q

With small cells that have increased central pallor on the smear

A

Microcytic hypochromic anemia

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23
Q

This type of anemia results from an iron level insufficient for maintaining normal erythropoiesis and is characterized by abnormal result of iron studies

A

Microcytic anemia

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24
Q

Associated conditions in microcytic hypochromic anemia (CTAILS)

A

CHRONIC BLOOD LOSS
THALASSEMIA
ANEMIA OF CHRONIC INFECTION
IRON DEFICIENCY
LEAD POISONING
SIDEROBLASTIC ANEMIA

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25
Q

Most common anemia among hospitalized patients

A

Anemia of chronic infection

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26
Q

Central feature of Anemia of chronic infection:

A

sideropenia (low serum iron) despite abundant iron stores

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27
Q

Acute phase reactants that contribute to Anemia of chronic infection

A

Hepcidin
Ferritin
Lactoferrin

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28
Q

Master regulatory hormone for systemic iron metabolism - inactivates ferroportin

A

Hepcidin

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29
Q

Storage form of iron

A

Ferritin

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30
Q

Transports iron from tissue to blood

A

Ferroportin

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31
Q

Type of anemia that Develops when the production of protoporphyrin or the incorporation of iron into protoporphyrin is prevented

A

Sideroblastic anemia

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32
Q

Nucleated RBC precursor with cytoplasmic iron granules

A

SIDEROBLAST

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33
Q

Anucleate RBC with iron granules

A

Siderocyte

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34
Q

Hallmark of Sideroblastic anemia

A

Ring Sideroblast

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35
Q

The rings in sideroblast is ?

A

Mitochondria loaded with iron

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36
Q

Most common type of anemia

A

Iron deficiency anemia

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37
Q

Pica-cravings for non food items (such as laundry starch or ICE (most common) - pagophagia
Brittle hair
Pillow
Glossitis

  • these are clinical feature of what type of anemia
A

Iron deficiency anemia

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38
Q

Indirectly measures the concentration of transferrin by measuring its ability to bind iron

A

Total iron binding capacity

39
Q

Reveals the body’s tissue IRON STORES
Good indicator of IRON STORAGE status

A

Serum ferritin test

40
Q

Useful in diagnosing iron deficiency (generally the first lab test to become abnormal when iron stores begin to decline)

A

Serum ferritin test

41
Q

Serum ferritin test is measured using?

A

Radioimmunoassay

42
Q

Iron deficiency stage

Hgb: Normal
Serum Iron: Normal
TIBC: Normal
Serum Ferritin Test: Low

A

Stage 1 (Storage Iron Depletion)

43
Q

Iron deficiency stage

Hgb: Normal
Serum Iron: low
TIBC: high
Serum Ferritin Test: low

A

Stage 2 (transport iron depletion)

44
Q

Iron deficiency stage

Hgb: low
Serum Iron: low
TIBC: high
Serum Ferritin Test: low

A

Stage 3 (functional iron depletion)
Characterized by frank iron deficiency anemia

45
Q

MICROCYTIC HYPOCHROMIC ANEMIA

Serum Iron: HIGH
TIBC: NORMAL
Serum Ferritin Test: HIGH
FEP: NORMAL

A

THALASSEMIA

46
Q

MICROCYTIC HYPOCHROMIC ANEMIA

Serum Iron: LOW
TIBC: LOW
Serum Ferritin Test: HIGH
FEP: HIGH

A

ANEMIA OF CHRONIC INFECTION

47
Q

MICROCYTIC HYPOCHROMIC ANEMIA

Serum Iron: LOW
TIBC: HIGH
Serum Ferritin Test: LOW
FEP: HIGH

48
Q

MICROCYTIC HYPOCHROMIC ANEMIA

Serum Iron: NORMAL TO HIGH OR LOW
TIBC: NORMAL
Serum Ferritin Test: NORMAL
FEP: HIGH

A

LEAD POISONING

49
Q

MICROCYTIC HYPOCHROMIC ANEMIA

Serum Iron: HIGH
TIBC: NORMAL
Serum Ferritin Test: HIGH
FEP: MIXED (HIGH AND LOW)

A

SIDEROBLASTIC ANEMIA

50
Q

TYPE OF MACROCYTIC NORMOCHROMIC ANEMIA:

Vit b12 deficiency
Folate dificiency
Acute erythroleukemia

A

Megaloblastic anemia

51
Q

TYPE OF MACROCYTIC NORMOCHROMIC ANEMIA:

Liver disease
Alcoholism
Bone marrow failure

A

Nonmegaloblastic anemia

52
Q

TYPE OF MACROCYTIC NORMOCHROMIC ANEMIA:

Hypersegmented neutrophils (>6 lobes) are present

A

Megaloblastic anemia

53
Q

TYPE OF MACROCYTIC NORMOCHROMIC ANEMIA:

Oval Macrocytes

A

Megaloblastic anemia

54
Q

TYPE OF MACROCYTIC NORMOCHROMIC ANEMIA:

Round macrocytes

A

Nonmegaloblastic anemia

55
Q

Considered as root cause of megaloblastic anemia

A

Impaired DNA synthesis

56
Q

DNA synthesis is dependent on ____ ; this structure cannot be made unless it receives a methyl group from methyl tetrahydrofolate or folic acid

A

Thymidine triphospahte (TTP)

57
Q

Is the cofactor responsible for transferring the methyl group to methyl tetrahydrofolate

A

Vitamin b12

58
Q

When thymidine triphosphate cannot be made, it is replaced by ; the synthesis of this structure results in nuclear fragmentation and destruction of cells and impaired cell division

A

Deoxyuridine triphosphate

59
Q

Synthetic form of cobalamin

A

Cyanocobalamin

60
Q

Naturally occurring cobalamin

A

Methyl cobalamin

61
Q

In either folate or vit b12 deficiency, patients may experience :

A

Glossitis
Gastritis, nausea, constipation

62
Q

These two compounds are essential in the formation or thymidine triphosphate

A

Vitamin B12 and folic acid

63
Q

Metabolically active form of Vit B12

A

HOLOTRANSCOBALAMIN

64
Q

Due to differences in the arrangement of amino acids in the polypeptide chain ; qualitative globin synthesis defect

A

Hemoglobinopathies

65
Q

Most commonly encountered hemoglobinopathies

A

Beta-hemoglobinopathies

66
Q

HEMOGLOBINOPATHIES: BOTH B-genes are mutated ; HbA is absent ; abnormal hemoglobin becomes the predominant Hb type

A

Homozygous B-hemoglobinopathies

67
Q

HEMOGLOBINOPATHIES: One of the B-genes is NORMAL ; other B-gene is mutated ; HbA is predominant than abnormal Hb

A

Heterozygous B-hemoglobinopathies

68
Q

Examples of homozygous B-hemoglobinopathies

A

Sickle cell disease
Hb C disease

69
Q

Examples of heterozygous B-hemoglobinopathies

A

Sickle cell trait
Hb C trait

70
Q

Examples of abnormal hemoglobins present in certain B-hemoglobinopathies

A

Hb S
Hb C
Hb E

71
Q

Most common and most severe abnormal hemoglobins present in B-Hemoglobinopathies

72
Q

ABNORMAL HB: Glutamic acid on the 6th position of the beta chain is replaced by valine

73
Q

2ND Most common abnormal hemoglobins present in B-Hemoglobinopathies

74
Q

3RD Most common abnormal hemoglobins present in B-Hemoglobinopathies

75
Q

SCREENING TESTS FOR Hb S

A

Sodium metabisulfite method
Sodium dithionate tube test
Hemoglobin Electrophoresis (Cellulose acetate)

76
Q

Considered as the primary screening procedure to detect abnormal hemoglobins

A

Hemoglobin Electrophoresis (Cellulose acetate)

77
Q

Confirmatory test for Hb S

A

Hemoglobin Electrophoresis (Citrate Agar)

78
Q

ABNORMAL HEMOGLOBIN: Glutamic acid on the 6th position of the beta chain is replaced by lysine

79
Q

An Hb C crystal with WASHINGTON MONUMENT appearance ; found protruding the RBC membrane

A

Hb SC crystal

80
Q

An Hb C crystal with BAR OF GOLD appearance ; found within RBC membrane

A

Hb CC crystals

81
Q

Also known as hereditary leptocytosis and Mediterranean defect

A

Thalassemia

82
Q

Mutations affecting the a- or b-globin gene - most clinically significant

A

Thalassemia

83
Q

Screening tests for thalassemia

A

CBC
PBS
IRON STUDIES

84
Q

CONFIRMATORY TEST FOR THALASSEMIA

A

MOLECULAR GENETIC TEST

85
Q

Typically caused by deletion of one, two, three, or all four of the a-globin genes

A

Alpha thalassemia

86
Q

ALPHA THALASSEMIA: One of the four genes is deleted

A

Silent carrier state

87
Q

ALPHA THALASSEMIA: two of four genes are deleted

A

A-thalassemia trait (thalassemia minor)

88
Q

ALPHA THALASSEMIA: three of four genes are deleted

A

Hb H disease (4 beta globin chain)

89
Q

ALPHA THALASSEMIA: four of four genes are deleted

A

Hb Bart hydrops fetalis syndrome (Hb Bart Syndrome ; Alpha thalassemia major)

90
Q

Most severe form of alpha thalassemia

A

Hb Bart syndrome

91
Q

A type of thalassemia caused by mutations that affect the B-globin gene complex

A

Beta thalassemia

92
Q

Most severe form of beta thalassemia ; transfusion depended

A

B-thalassemia major (Codley’s anemia)

93
Q

Transfusion independent type of beta thalassemia

A

B-thalassemia intermedia

HEMATOLOGY 1 (8 decks)

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