BONE MARROW FAILURE

Question 1

is the reduction or cessation of blood cell production affecting one or more cell lines

Answer 1

BONE MARROW FAILURE

Question 2

destruction of hematopoietic stem cells due to injury by drugs, chemicals, radiation, viruses, or autoimmune mechanisms

Answer 2

BONE MARROW FAILURE

Question 3

premature senescence and apoptosis

Answer 3

BONE MARROW FAILURE

Question 4

ineffective hematopoiesis due to stem cell mutations or vitamin B12 or folate deficiency

Answer 4

BONE MARROW FAILURE

Question 5

disruption of the bone marrow microenvironment that supports hematopoiesis

Answer 5

BONE MARROW FAILURE

Question 6

decreased production of hematopoietic growth factors or related hormones

Answer 6

BONE MARROW FAILURE

Question 7

loss of normal hematopoietic tissue

Answer 7

BONE MARROW FAILURE

Question 8

include pancytopenia, reticulocytopenia, bone marrow hypercellularity, and depletion of hematopoietic stem cells

Answer 8

APLASTIC ANEMIA

Question 9

Acquired Aplastic Anemia
Two major categories:

Answer 9

1. Idiopathic acquired aplastic anemia - 70%
2. Secondary acquired aplastic anemia - 10%-15%

Question 10

CD34+ cells have increased expression of Fas receptors that mediate apoptosis and increased expression of apoptosis- related genes

Answer 10

Acquired Aplastic Anemia

Question 11

present at an earlier age and may have characteristic physical stigmata

Answer 11

Inherited Aplastic Anemia

Question 12

Inherited Aplastic Anemia

Answer 12

1. Fanconi Anemia
2. Dyskeratosis Congenita
3. Shwachman-Bodian-Diamond Syndrome

Question 13

is a chromosome instability disorder characterized by aplastic anemia, physical abnormalities, and cancer susceptibility

Answer 13

Fanconi Anemia

Question 14

skeletal abnormalities (thumb malformations, radila hypoplasia, microcephaly, hip dislocation, scoliosis)

Answer 14

Fanconi Anemia

Question 15

skin pigmentation (hyper-/hypopigmentation, cafe-au-lait lesions)

Answer 15

Fan coni Anemia

Question 16

short stature, abnormalities of the eyes, kidneys, and genitals

Answer 16

Falcon anemia

Question 17

low birth weight and developmental delay

Answer 17

Fanconi Anemia

Question 18

characterized by mucocutaneous abnormalities, bone marrow failure, and pancytopenia

Answer 18

Dyskeratosis Congenita

Question 19

triad of abnormal skin pigmentation, dystrophic nails, and oral leukoplakia

Answer 19

Dyskeratosis Congenita

Question 20

multisystem abnormalities: pulmonary fibrosis, liver disease, developmental delay, short stature, microcephaly, prematurely gray hair or hair loss, immunodeficiency dental carries, periodontal disease.

Answer 20

Dyskeratosis Congenita

Question 21

is an inherited multisystem disorder characterized by pancreatic insufficiency, cytopenia, skeletal abnormalities, and a predisposition for hematologic malignancies

Answer 21

Shwachman-Bodian-Diamond Syndrome

Question 22

a rare disorder of erythropoiesis characterized by a selective decrease in erythrocyte precursors in an otherwise normal bone marrow

Answer 22

PURE RED CELL APLASIA

Question 23

Acquired Pure Red Cell Aplasia

Answer 23

Transient Erythroblastopenia of Childhood

Question 24

the acquired form of PRCA in young children

Answer 24

Transient Erythroblastopenia of Childhood

Question 25

Congenital Pure Red Cell Aplasia:

Answer 25

Diamond-Blackfan Anemia

Question 26

a congenital erythroid hypoplastic disorder of early infancy

Answer 26

Diamond-Blackfan Anemia

Question 27

approximately half of patients have: physical anomalies (craniofacial dysmorphisms, short stature, neck and thumb malformations)

Answer 27

Diamond-Blackfan Anemia

Question 28

are a heterogeneous group of rare disorders characterized by refractory anemia, reticulocytopenia, hypercellular bone marrow with markedly ineffective erythropoiesis, distinctive dysplastic changes in bone marrow erythroblasts

Answer 28

CONGENITAL DYSERYTHROPOIETIC ANEMIA

Question 29

is due to the infiltration of abnormal cells into the bone marrow and subsequent destruction and replacement of normal hematopoietic cells

Answer 29

MYELOPHTHISIC ANEMIA

Question 30

common complication of CKD is anemia

Answer 30

ANEMIA OF CHRONIC KIDNEY DISEASE

Question 31

burr cells are common peripheral blood film findings

Answer 31

ANEMIA OF CHRONIC KIDNEY DISEASE

Question 32

Primary cause of anemia in CKD:

Answer 32

1. Inadequate renal production of EPO 2. Uremia 3. Hemodialysis and frequent blood draws 4. Chronic inflammation and a restricted diet

Question 33

results when the rate of RBC destruction exceeds the increased rate of RBC production

Answer 33

HEMOLYTIC ANEMIA

Question 34

caused by the defects in proteins that disrupt the vertical interactions between transmembrane proteins and the underlying protein cytoskeleton

Answer 34

HEREDITARY SPHEROCYTOSIS

Question 35

results from gene mutation

Answer 35

HEREDITARY SPHEROCYTOSIS

Question 36

the defects in vertical membrane protein interactions cause RBCs to lose unsupported lipid membrane over time because of local disconnections of the lipid bilayer and underlying cytoskeleton

Answer 36

HEREDITARY SPHEROCYTOSIS

Question 37

Three key clinical manifestations of hereditary spherocytosis

Answer 37

anemia, jaundice, splenomegaly

Question 38

demonstrates increased RBC fragility in blood specimens in which the RBCs have decreased surface area-to-volume ratios

Answer 38

Osmotic fragility

Question 39

cells with decreased surface area:volume ratio have limited capacity to expand in hypotonic solutions, hence undergo lysis

Answer 39

Osmotic fragility

Question 40

EMA is a fluorescent dye that binds to transmembrane proteins band 3, Rh, RhAg, and CD47 in the RBC membrane

Answer 40

Eosin-5’-maleimide (EMA) binding test

Question 41

characteristic finding: elliptical or cigar-shaped RBCs on the peripheral blood film

Answer 41

HEREDITARY ELLIPTOCYTOSIS

Question 42

considered a severe form of HEREDITARY ELLIPTOCYTOSIS

Answer 42

Hereditary pyropoikilocytosis

Question 43

- RBCs show thermal sensitivity. - RBCs fragment at 41°C to 45°C

Answer 43

Hereditary pyropoikilocytosis

Question 44

- or Southeast Asian Ovalocytosis

Answer 44

HEREDITARY OVALOCYTOSIS

Question 45

a condition caused by mutation in the gene for band 3 that results in increased rigidity of the membrane

Answer 45

HEREDITARY OVALOCYTOSIS

Question 46

due to a defect in membrane cation permeability that causes RBCs to be overhydrated

Answer 46

OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Question 47

the RBC membrane is excessively permeable to sodium and potassium at 37°C

Answer 47

OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Question 48

or hereditary xerocytosis

Answer 48

DEHYDRATED HEREDITARY STOMATOCYTOSIS

Question 49

due to a defect in membrane cation permeability that causes RBCs to be dehydrated

Answer 49

DEHYDRATED HEREDITARY STOMATOCYTOSIS

Question 50

RBC membrane is excessively permeable to potassium

Answer 50

DEHYDRATED HEREDITARY STOMATOCYTOSIS

Question 51

potassium leaks out of the cell

Question 52

Other Hereditary Membrane Defects

Answer 52

I. Familial Pseudohyperkalemia II. Cryohydrocytosis III. Rh Deficiency Syndrome

Question 53

is a term used to describe a group of rare inherited disorders characterized by neurologic impairment and acanthocytes on the PBS

Answer 53

Neuroacanthocytosis

Question 54

Under Neuroacanthocytosis

Answer 54

I. Abetalipoproteinmeia II. McLeod Syndrome III. Chorea acanthocytosis

Question 55

characterized by fat malabsorption, progressive ataxia, neuropathy, retinitis pigmentosa, and acanthocytosis

Answer 55

Abetalipoproteinmeia

Question 56

an X-linked disorder caused by mutations in the KX gene

Answer 56

McLeod Syndrome

Question 57

characterized by chorea, hyperkinesia, cognitive impairments, and neuropsychiatric symptoms

Answer 57

Chorea acanthocytosis

Question 58

caused by an acquired clonal hematopoietic stem cell mutation that results in circulating blood cells that lack CD55 and CD59

Answer 58

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Question 59

the absence of CD55 and CD59 on the surface of the RBCs renders them susceptible to spontaneous lysis by complement

Answer 59

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Question 60

mutation in the PIGA gene

Answer 60

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Question 61

Laboratory diagnosis for PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Answer 61

I. Sugar water test II. Sucrose hemolysis test III. Acidified serum test/ Ham test

Question 62

RBCs are particularly vulnerable to oxidative damage and subsequent hemolysis during oxidant stress

Answer 62

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Question 63

is the most common RBC enzyme defect

Answer 63

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Question 64

one of the important intracellular enzymes needed to protect hemoglobin and other cellular proteins and lipids from oxidative denaturation

Answer 64

G6PD

Question 65

catalyzes the first step in a series of reactions that detoxify hydrogen peroxide formed from oxygen radicals

Answer 65

G6PD

Question 66

confers protection against life-threatening P. falciparum and P. vivax

Answer 66

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Question 67

Laboratory diagnosis for GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Answer 67

Ascorbate cyanide screening test

Question 68

detects deficiencies in the pentose phosphate pathway

Answer 68

Ascorbate cyanide screening test