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Hematologic D/O Flashcards

1
Q

Alpha Thalassemia has how many versions?

A

4

  1. Silent (1 mutation)
  2. Alpha-Thalassemia trait (2 mutations)
  3. Hgb H disease (3 mutations)
  4. Bart Hgb/hydrops fetalis (4 mutations)
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2
Q

Beta Thalassemia has how many version?

A

3

    • Thalassemia Minor (1 mutation)
    • Thalassemia Intermedia (2 mutations)
    • Thalassemia Major (2 mutations)
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3
Q

Alpha Thalassemia w/ 1 gene mutation S/S?

A

Silent carrier

- Asymptomatic

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4
Q

Alpha Thalassemia w/ 2 gene mutation S/S?

A

Alpha Thalassemia trait

  • mild microcytic anemia
  • mild decreased MCV, H/H
  • NL retic count, Hgb electrophoresis
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5
Q

Alpha Thalassemia w/ 3 gene mutation S/S?

A

Hgb H disease

  • Microcytic anemia and mild hemolysis
  • Hgb Electrophoresis = High hgb-H (B4)
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6
Q

Alpha Thalassemia w/ 4 gene mutation S/S?

A

Bart Hgb/hydrops fetalis

  • Severe anemia
  • CHF - heath in-utero or at birth.
  • Anasarca
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7
Q

TXT of Alpha Thalassemia w/ 3 gene mutation?

A

Supplement Folic acid
Genetic counseling
Occ. Transfusion if ever during a crisis

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8
Q

Anasarca is?

A

Generalized swelling throughout body

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9
Q

Beta Thalassemia w/ 1 gene mutation S/S?

A

Thalassemia Minor trait

- Mild microcytic anemia

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10
Q

Beta Thalassemia w/ 1 gene mutation genotype?

A

-Heterozygous- (1 normal gene)
B/B+ -Reduced beta chain synthesis (B+)
or
B/B0 -No beta chain synthesis (B0)

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11
Q

Beta Thalassemia w/ 2 gene mutation compound heterozygous S/S?

A

Thalassemia intermedia

  • Moderate hemolysis
  • Splenomegaly
  • Mod-Sev anemia (no TRXF yet)
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12
Q

Beta Thalassemia w/ 2 gene mutation compound heterozygous genotype?

A 
Thalassemia intermedia
-Compound Heterozygous-
B+/B+ -both reduced beta chain synth
or
B+/B0 -1 is reduced beta synth (B+) - No beta synth (B0)
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13
Q

Beta Thalassemia w/ 2 gene mutation compound heterozygous Hgb electrophoresis result?

A

High Hgb A2 (Alpha 2, Delta 2)

High Hgb F (Alpha 2, Gamma 2)

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14
Q

Beta Thalassemia w/ 2 gene mutation homozygous S/S?

A 
-Cooleys Anemia or Thalassemia Major-
Severe hemolysis w/ bad EPO = Trxf dependent
Anemic Crisis REQ Trxf by 2mo
Hepatosplenomegaly
Hemochromatosis
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15
Q

Hemochromatosis is?

A

Iron overload

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16
Q

Beta Thalassemia w/ 2 gene mutation homozygous TXT?

A

Deferoxamine - Iron chelation for Hemochromatosis

Hematopoietic stem cell TrxP (High Success rate)

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17
Q

Beta Thalassemia w/ 2 gene mutation homozygous Hgb electrophoresis result?

A

High Hgb-F (Alpha 2, Gamma 2) - Lack of normal Hgb A

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18
Q

Beta Thalassemia w/ 2 gene mutation homozygous genotype?

A

B0/B0 - No Beta-chain synth

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19
Q

Sickle cell trait genotype?

A

S/A - heterozygous for Hgb S gene (Asymptomatic)

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20
Q

Sickle cell disease genotype?

A

S/S - homozygous for Hgb S gene (Severe Anemia)
= no Hgb A
- Hgb F distributed

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21
Q

Triggers of SCA?

A

Hypoxia / Acidosis

Fever, Hypothermia, Dehydrated

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22
Q

Pathophys SCA?

A

Sickled RBC cannot move through capillary system
= Thrombosis
= Sequestration
= Infarction

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23
Q

Infants w/ SCA may present w/?

A

Life threatening infections by 4mo due to splenic dysfx

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24
Q

What organisms are SCA pts susceptible too?

A

Encapsulated bacteria (Streptococcus Pneumoniae)
or
Parvovirus B19

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25
Q

What Organ issues are involved w/ SCA?

A

Splenic infarction (2-4yo)
Hand/Foot swelling
Priapism (6-20yo)

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26
Q

2 types of vasocclusive events experienced by SCA?

A

Pain crisis

Acute chest syndrome

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27
Q

MC type of vasocclusive event?

A

Pain crisis

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28
Q

SCA Pain crisis is?

A

Pain localized to Arm/Leg long bones lasting 2-7d

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29
Q

Complication of a SCA Pain crisis?

A

Femoral head avascular necrosis

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30
Q

TXT of a SCA pain crisis?

A

Fluids - O2

Analgesics (Narc/Nsaid)

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31
Q

SCA acute chest syndrome is?

A

Vasocclusive crisis w/in lungs - ass/w infection or infarction

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32
Q

CXR of SCA pt w/ acute chest syndrome will show?

A

New infilitrate

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33
Q

S/S of SCA acute chest syndrome?

A

1st CP > Cough, INC HR/RR, hypoxia, Resp distress

PE - DEC breath sounds, dull percussion

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34
Q

TXT of SCA acute chest syndrome?

A

Fluids/O2
Analgesics
ABX
B-Dils, incentive spirometry, RBC Trxf

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35
Q

Complications of SCA?

A

Splenic Sequestrian Crisis
Fx Asplenia
Stroke (Overt vs Silent (no neuro findings)
Aplastic crisis (Fifth dz)
Infection/Respiratory distress
Bone pain - Femoral head avascular necrosis

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36
Q

Number one cause of death of SCA w/ Fx Asplenia?

A

Sepsis (S. Pneumo or Salmonella Osteomyelitis)

- Spleen cant sequester

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37
Q

Splenic sequestration crisis pathophys?

A

Splenic pooling of RBC’s due sickling >
Hyperacute drop in H/H >
Hypovolemia

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38
Q

What organism will throw SCA pt in Aplastic crisis?

A

Parvovirus B19 (5th disease)

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39
Q

Pathophys os aplastic crisis in SCA?

A

B19 virus infects RBC precursors in BM >

Anemia ensues

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40
Q

SCA and fever req what W/U?

A

R/O sepsis

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41
Q

Chronic TXT of SCA?

A 
Hydroxyurea - ( increases hgb F production)
Stem cell Trxp (HLA match = curative)
Daily PO PCN at Dx for prophylaxis
Vaccinate!
Folate supplement
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42
Q

Types of RBC enzyme deficiencies?

A

G6PD

Pyruvate kinase deficiency

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43
Q

G6PD pathophys?

A

Glutathione is reduced and absorbs free radicals >
Free radicals damage/oxidize Hgb = Heinz bodies>
RBC membrane fragility > Hemolysis

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44
Q

S/S G6PD?

A

Hgb-uria
Anemia
Jaundice (24-28h of ingestion of oxidizing agents)

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45
Q

CBC differential stand out clues of G6PD deficiency?

A

Heinz bodies

Bite cells - RBC bit by Macrophages eating Heinz body

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46
Q

Compounds ass/w exacerbating G6PD deficits?

A 
Fava beans/Mothballs (naphthalene)
Sulfa Rx
ASA
Primaquine
Nitrofurantoin
Serious infection
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47
Q

Dx of G6PD req?

A

G6PD levels

NADPH production

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48
Q

TXT of G6PD?

A

Avoidance of oxidative Rx/Agents

Support

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49
Q

Pathophys of Pyruvate Kinase (PK) deficiency?

A

ATP depletion >
Na/K pump fails >
Rigid RBC impairs survivability

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50
Q

S/S of Pyruvate Kinase (PK) deficiency?

A

Hemolysis > Anemia/jaundice

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51
Q

Dx of Pyruvate Kinase (PK) deficiency?

A

PK activity

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52
Q

TXT of Pyruvate Kinase (PK) deficiency?

A

Neonates - req Trxf

Splenectomy if severe

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53
Q

Types of hemostatic disease?

A 
Idiopathic Thrombocytopenic purpura (ITP)
Wiskott-Aldrich syndrome
Hemophilia (A/B)
vW Dz
Kawasakis
Henoch-Schonlein Purpura (HSP)
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54
Q

Define thrombocytopenia?

A

<150k

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55
Q

Spontaneous Bleed risk of PLT value?

A

<20k

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56
Q

Bleeding risk only if surgery/major trauma PLT value?

A

<80k

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57
Q

Petechiae is?

A

Non-blanching lesions <2mm in size

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58
Q

Purpura is?

A

Adjoining petechiae (+- raised/palpable)

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59
Q

Hematoma is?

A

Raised, Palpable ecchymoses

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60
Q

Thrombocytopenic causes of bleeding?

A

ITP

Wiskott-Aldrich syndrome

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61
Q

Coagulopathic causes of bleeding?

A

vW Dz

Hemophilia A/B

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62
Q

Vasculitis causes of bleeding?

A

Kawasakis

Henoch-Schonlein purpura

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63
Q

MC childhood bleeding D/O?

A

ITP

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64
Q

Pathophys of ITP?

A

Autoimmune

  • IgG/IgM binds PLTs >
  • PLTs coated w/ ABs are destroyed in spleen
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65
Q

Etiology/epidemiology of ITP?

A

Young children 1-4w s/p viral infection

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66
Q

S/S of ITP?

A

1-4w s/p viral infection >
Petechiae, purpura
Epistaxis, bleeding gums, hematuria

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67
Q

Dx of ITP?

A

CLinical and PLT count

68
Q

Labs of ITP?

A

Severe decreased PLT
BM Bx - Increased megakaryocytes
EVERYTHING else is NL

69
Q

TXT of ITP w/ PLT >30k?

A

No TXT - resolves w/in 6mo

70
Q

TXT of ITP w/ PLT <10k?

A

Prednisone
IVIG
IV Anti-D (if Rh Positive Pt)
Splenectomy if life threat

71
Q

TXT of chronic ITP lasting >6mo?

A

R/O 2ndy causes - SLE or HIV

Splenectomy

72
Q

Definitive TXT of ITP is?

A

Splenectomy

73
Q

Wiskott-Alrich syndrome is?

A

Cytoskeletal protein defect in Lymphocytes and PLTs

74
Q

What cells does Wiskott-Alrich syndrome affect?

A

Lymphocytes and PLTs

75
Q

S/S of Wiskott-Alrich syndrome?

A

Hypogammaglobinemia
Eczema
Thrombocytopenia

76
Q

CBC diff of Wiskott-Alrich syndrome shows?

A

Small PLTs

77
Q

Wiskott-Alrich syndrome TXT?

A

Splenectomy improves PLT levels

78
Q

What is genetic inheritance of Wiskott-Alrich syndrome?

79
Q

What is the genetic inheritance of Hemophilia?

80
Q

Differences of Hemophilia A vs B?

A

A - VIII (8) deficit (inherited or spontaneous)

B - IX (9) deficit

81
Q

Which hemophilia is MC?

A

Hemophilia A

82
Q

How different is TXT for hemophilia A vs B?

A

They are exactly the same EXCEPT

Hemophilia A - Desmopressin (increase VIII, vWF)

83
Q

S/S of Hemophilia?

A

Severe hemophilia - Symptomatic 1st yr of life

  • Spon/Excess bleeding - minor trauma
  • Hemarthosis - bleed into joints
84
Q

Severity of hemophilia is based upon?

A

Degree of factor deficit

85
Q

Coag studies of Hemophilia?

A

PTT - prolonged
PT/Bleed time - NL
Factor assay

86
Q

Definitive Dx of Hemophilia?

A

Factor assay

87
Q

TXT of hemophilia?

A

Avoid trauma/risks
Factor replacement
Recombinant factors

88
Q

Hemophilia A additional TXT?

A

Desmopressin (Increase VIII and vWF synth)

89
Q

MC congenital bleeding d/o?

90
Q

What is vW Dz?

A

Deficit in quantity OR fx of vWF

91
Q

Fx of vWF?

A

Bridges PLTs and subendothelial collagen

Binds VIII to keep from clearing circulation

92
Q

Subtypes of vWF?

A

Type 1 - Decreased production of vWF
Type 2 - NL production - defective protein
Type 3 - No production (Rare)

93
Q

MC subtype of vWF?

A

Type 1 (decreased production of vWF)

94
Q

Genetic inheritance of vWF?

A

Autosomal dominant

95
Q

vW Dz S/S?

A

Mild prolonged bleeding +- trauma

  • bleeding gums, epistaxis
  • heavy menses
  • mucocuaneous bleeding
96
Q

vW Dz Labs?

A

vWF factor assay - quantity

Ristocetin - assess fx of vWF

97
Q

vW Dz TXT?

A

Type 1-2 = Desmopressin

Type 3 = vWF Concentrate

98
Q

TXT of hemophilia A?

A

Desmopressin or Recombinant factor 8

99
Q

TXT of hemophilia B?

A

Recombinant factor 9

100
Q

HSP falls under what category for bleeding d/o?

A

Vasculitis

101
Q

MC childhood systemic vasculitis?

102
Q

Pop of HSP?

A

MC <6yo (3-15yo)

103
Q

HSP is?

A 
Following URI - Inflammation of SML blood vessels w/
- Leukocyte infilitration into tissue
- Bleed
- Ischemia
Due to IgA deposition
104
Q

HSP immune complex to blame?

105
Q

IgA immune complex deposition can lead to?

A

Glomerulonephritis

106
Q

S/S of HSP?

A 
Rash - purpura to ecchymosis
Arthralgia/arthritis
Cramp abdominal pain (ischemia)
Renal involvement
Edema of calves, feet, scalp, genitals
107
Q

HSP Rash is characterized by?

A

Palpable purpura below waist (Ass/LE)

Small macules > Urticarial lesion > Purpura > Bruise

108
Q

Location of arthralgia or arthritis w/ HSP pts?

A

Ankle/Knee (Acute pain and non-WGT bearing)

109
Q

HSP crampy abdominal pain is due to?

110
Q

HSP renal involvement includes?

A

Glomerulonephritis > hematuria, HTN, ARF

111
Q

Dx criteris of HSP?

A

Pediatric cause - <20yo at onset
Palpable purpura W/OUT thrombocytopenia
Bowel angina
Dx Bx - Histology of IgA or granulocytes in walls

112
Q

HSP is involved w/ what GI d/o?

A

Intussusception

113
Q

How long does HSP last?

114
Q

How long does a HSP rash last?

A

Wax/Wane for 1yr

115
Q

Eval of HSP?

A 
PLT = nl or elevated
WBC = elevated
ESR/CRP = elevated
Renal Fx - UA, BUN/Cr
Stool for occult blood - ischemia
116
Q

TXT of HSP?

A

Supportive
NSAIDs arthritis
Admit if severe

117
Q

Rare but serious progression of HSP?

A

Renal failure due to IgA deposition

118
Q

Kawasaki’s Dz is?

A

SML to MED arterial inflammation w/ aneurysm formation

119
Q

One key difference between HSP and Kawasaki’s Dz?

A

Kawasaki’s Dz is actue febrile illness

HSP is NOT febrile

120
Q

Epidemiology of Kawasaki’s Dz?

A

Japan
<5yo (MC - 2-3yo)
Feb-May

121
Q

Phases of Kawasaki’s?

A

Acute (1-2w)
Subacute (Lasts until 4th wk)
Convalescent (6-8w after)

122
Q

Characteristics of Kawasaki’s Dz acute phase?

A 
High fever >40c
Conjunctival erythema
Dry cracked lips
Strawberry tongue
Cervical LAD
Scarlatina-like rash <24h after fever onset
Hand/foot edema
123
Q

Characteristics of Kawasaki’s Dz sub-acute phase?

A

Gradual fever dissipation
Skin desquamation
High PT count
Coronary artery aneurysms

124
Q

Characteristics of Kawasaki’s Dz Convalescent phase?

A

Symptom resolution to NL ESR

125
Q

What risks increase the possibility for coronary artery aneurysm in Kawasaki’s Dz?

A

Prolonged fever
HIGH ESR
<1yo or >6yo
Male

126
Q

Criteria for Kawasaki’s Dz?

A

Fever >5d + 4 or more changes
-Bilateral non-suppurative conjunctivitis
-Mucus membrane (Red throat/lips, dry lip, strawberry-T
-Extremities (Red, Edema, desquamination)
-Rash - primarily Trunk
-Cervical LAD >1.5cm
OR (CAD dx w/ echo/cath + 3 changes)

127
Q

Eval of Kawasaki’s Dz?

A

Blood and Urine Cx - r/o infection
WBC, ESR, CRP - elevated
PLTs - NL or Low
Echo at 2-3w AND 6-8w

128
Q

TXT of Kawasaki’s Dz?

A

IVIG - mainstay (CAD prevention)

ASA - High dose > reduced dose

129
Q

Acute anemia results in?

A

Tachycardia

130
Q

Anemia of chronic disease is ass/w S/S?

A

Growth failure or FTT

131
Q

S/S of these suggests?
Pallor
Jaundice
Splenomegaly

132
Q

S/S of these suggests?

Petechiae/purpura

A

Deeper bleeding - hemostatic conditions

133
Q

S/S of these suggests?

Hepato-Splenomegaly and LAD

A

Infiltrative d/o or systemic illness

134
Q

S/S of these suggests?

Anemis + thrombo/pancytopenia =

A

Congenital anomalies or growth delays

135
Q

Microcytic anemia is due to?

A

Inadequate Hgb production

136
Q

Microcytic anemia DDx? Mnemonic?

A

FLATS

  • Fe deficit anemia (IDA)
  • Lead poisoning
  • Anemia of chronic Dz
  • Thalassemia
  • Sideroblastic anemia
137
Q

MC cause of anemia in the world?

138
Q

RFs of IDA?

A

Breast milk or Too much cows milk or given to early
Menses in teenage girls
Lead poisoning
Socioeconomic

139
Q

TXT IDA w/?

A

4-6mg/day iron for 3-4mo w/ reeval after 2w.
(Hct 1% increase - Hgb increase 0.25g) (4-30d to NL)
(Reticulocytosis improves w/in 48-72h)

140
Q

Bottle fed infants require?

A

Formula w/ iron

141
Q

Breast fed infants require?

A

> 6mo iron supplementation

142
Q

At 6mo an infant should be introduced to?

A

Iron-enriched solid foods

143
Q

At 1yo a child should be introduced to?

A

Cows milk and increase solid foods

144
Q

Lead poisoning has a characteristic CBC diff of?

A

Hypochromic microcytic anemia

- Basophilic stippling

145
Q

Lead poisoning is ass/w what other anemia?

146
Q

What behavioral is ass/w lead poisoning?

A

PICA (older home and chipped pain/lead)

147
Q

When should lead levels be investigated?

A

> 20ug/dL w/ single visit
OR
Persistent 15ug/dL over 3mo period

148
Q

What levels of lead will cause learning issues?

149
Q

TXT of lead poisoning?

A

Remove exposure
Chelation
IDA TXT

150
Q

Lead PVT consists of?

A

Standardized screening questions - ALL ages 6mo -6yo

w/ blood screens at 12 and 24mo

151
Q

Common normocytic anemias types?

A

TEC - transient erythoblastopenia of childhood

Infectious agents causing pancytopenia

152
Q

TEC - transient erythoblastopenia of childhood is due to?

A

Low RBC production due to BM suppression from viral infection (HHV/Parvo B19)

153
Q

Characteristics of transient erythoblastopenia of childhood TEC?

A

Slow onset - 1-2mo in PEDs 1-4yo (MORE SUBACUTE)
Asymptomatic and Self limiting
Rx - PO CCS if refractory

154
Q

Rx TXT of transient erythoblastopenia of childhood?

A

PO CCS if refractory case does not self limit

155
Q

MC viral agent causing pancytopenia?

A

Parvovirus B19

156
Q

Characteristics of Infectious agents causing pancytopenia?

A

Parvovirus B19

Severe aplastic crisis lasting 1-2w (MORE ACUTE)

157
Q

TXT of Infectious agents causing pancytopenia?

A

Supportive +- blood Trxf

158
Q

Clues hemolysis is occurring?

A

Increased bilirubin
Increased free Hgb but Decreased haptoglobin
+- Hemaglobinuria
+- Hyperkalemia

159
Q

Macrocytic Anemia DDx? and Mnemonic?

A 
FAT BC
F- Folate deficit
A- Alcohol abuse
T- Thyroid (Hypo)
B- B12 deficit
C- Cirrhosis/chronic liver Dz
160
Q

W/U for Macrocytic anemia?

A

Labs - B12, Folate, TFT, LFTs

161
Q

TXT of Macrocytic anemia?

A

B12/Folate replacement (CBC improves <1wk)

Txt underlying d/o

162
Q

Aplastic anemia causes?

A

MC - Idiopathic
Rx (Felbamate, chloramphenicol
Toxins (Benzene)
Infections (Mono, Hepatitis)

163
Q

Dx of Aplastic anemia req?

A

Bone marrow Bx

164
Q

Severe aplastic anemia criteria?

A

Absolute - Retic <50k and SEGs <500k
PLT <20k
BM cellularity <25%

165
Q

TXT of aplastic anemia?

A

Stem cell TrxP

Immunosuppressive therapy

166
Q

Types of Hemoglobinopathies?

A

Thalassemia

Sickle cell disease

Phase 2 PEDs (23 decks)

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