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Royal College Exam > Hematology > Flashcards

Hematology Flashcards

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1
Q

What is hemoglobin A comprised of?

A

a tetramer consisting of one pair of alpha globin chains and one pair of beta globin chains

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2
Q

What is the defect in beta thalassemia?

A

impaired production of beta globin chains, leading to a relative excess of unstable alpha globin chains

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3
Q

What happens when you have excess alpha globin chains (as in beta thal)?

A

Excess alpha globin chains are unstable, incapable of forming soluble tetramers on their own, and precipitate within the cell, leading to a variety of clinical manifestations. The degree of alpha globin chain excess determines the severity of subsequent clinical manifestations, which are profound in patients homozygous for impaired beta globin synthesis

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4
Q

How do infants with beta thalassemia present at birth?

A

Infants with severe beta thalassemia major (BTM) are well at birth, because the production of beta globin is not essential during fetal life or the immediate perinatal period. The major non-alpha globin produced at the time of birth is gamma globin, such that the major hemoglobin in early postnatal life is fetal hemoglobin (Hb F, alpha2/gamma2).

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5
Q

When would an infant develop symptoms of beta thalassemia major?

A

During the second six months of life when gamma globin chain production decreases and should be replaced with the production of beta globin to form adult hemoglobin (Hb A, alpha2/beta2).

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6
Q

What is the classic xray finding in beta-thalassemia?

A

hair-on-end apperance of the skull

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7
Q

What is the Mentzer index?

A

MCV/RBC

if >13 iron deficiency is more likely

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8
Q

What is neonatal alloimmune thrombocytopenia (NAIT)?

A

fetal platelets contain an antigen inherited from the father that the mother lacks, most commonly human platelet antigen (HPA)-1a

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9
Q

What is the most likely cause for inability to reach therapeutic heparin level despite increasing doses?

A

Antithrombin III deficiency

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10
Q

1st line treatment for DVT?

A

Low molecular weight heparin

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11
Q

What does bone marrow aspirate show in transient erythroblastopenia of childhood?

A

Arrested erythroid precursors

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12
Q

What are predictors of poor outcome in sickle cell disease?

A

Dactylitis, Hb

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13
Q

What are the 3 main features of Wiskott-Aldrich?

A

(1) Severe eczema
(2) Thrombocytopenia
(3) Frequent infections

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14
Q

What would be the reason for increasing episodes of bleeding and hemarthrosis of the ankle despite meditation compliance?

A

Check FVIII and inhibitor levels

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15
Q

Types of Von Willebrand disease

A

Type 1 -Decrease in quantity
Type 2 - Abnormal quality
Type 3 - No VWF (most rare)

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16
Q

Medications used in VWD

A

DDAVP - increases release of VWF

*will not work in Type 2, Type 3

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17
Q

What is the antigen implicated in NAIT?

A

HPA-1A (used to be called PLA-1) *give PLA-1 negative platelets)

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18
Q

What is the pathophysiology/process in NAIT?

A

Caused by antibodies specific for platelet antigens inherited from the father but which are absent in the mother (analogous to Rh-)

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19
Q

What are the vitamin K-dependent factors?

A

10, 9, 7, 2

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20
Q

When does the classic form of hemorrhagic disease of the newborn present?

A

1 day - 2 weeks (not enough placental transfer from mom)

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21
Q

When does the early form of hemorrhagic disease of the newborn present?

A

< 24 hrs

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22
Q

When does the late form of hemorrhagic disease of the newborn present?

A

2 weeks - 12 weeks (exclusively in breastfed infants - not taking enough vitamin K)

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23
Q

Features of DIC

A

Elevated D-dimer, low platelets, low fibrinogen, elevated INR/PTT

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24
Q

Conditions associated with polycythemia

A

T21, recipient twin, LGA, maternal diabetes, Beckwith-Wiedemann, thyroid abnormalities, chromosomal abnormalities

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25
Q

Timing of physiologic hemoglobin nadir in preterm vs. term babies?

A

Term - 6 to 8 weeks

Preterm - 3 to 7 weeks

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26
Q

What do you see on the blood smear for a child with HUS?

A

Schistocytes (sign of intravascular hemolysis)

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27
Q

Signs of Diamond Blackfan anemia on physical exam

A

abnormal thumbs (long, bifid), absent radial pulse, craniofacial abnormalities

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28
Q

What is the objective of using leukoreduced white cells?

A

To prevent febrile transfusion reactions

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29
Q

What is Shwachman-Diamon syndrome?

A

Shwachman-Diamond syndrome (SDS, also known as Shwachman-Bodian-Diamond syndrome, Shwachman-Diamond-Oski syndrome, or Shwachman syndrome) is a rare inherited disorder associated with neutropenia that may progress to bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities that generally presents in infancy.

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30
Q

What is the appropriate empiric antibiotic regimen for ACS in HbSS?

A

Broad spectrum empiric coverage with a third generation cephalosporin (eg, cefotaxime or ceftriaxone) for bacterial coverage and a macrolide (eg, azithromycin or erythromycin) for coverage of atypical organisms (eg, mycoplasma and chlamydia) should be initiated immediately on admission.

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31
Q

Children with sickle cell are at risk of infection with which organisms?

A 
Strep pneumo
Haemophilus influenza
Neisseria
E coli
Salmonella
Klebsiella
Group B strep
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32
Q

chronic ITP - length of time?

A

> 12 months

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33
Q

complications of IVIG

A

aseptic meningitis, hemolytic anemia, TRALI, thromboembolism…

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34
Q

How many genes are involved in alpha thalassemia?

A

4

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35
Q

how many genes are involved in beta-thalassemia?

A

2

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36
Q

what are the possible mutations in alpha-thal trait?

A

aa/– (cis), a-/a- (trans)

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37
Q

what is the gene deletion in Hb-H? (alpha-thalassemia)

A

a-/–

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38
Q

what is Hemoglobin Barts Disease?

A

complete absence of alpha-thalassemia gene (–/–)

fatal

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39
Q

what is the gene deletion in beta-thal trait?

A

B/-

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40
Q

what is beta-thal major?

A

-/- (homozygous), cannot make HbA (makes HbF, aa/gg)

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41
Q

CD19 - what type of cell

A

B-cell

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42
Q

CD3 - what type of cell

A

T-cell

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43
Q

CD33 - what type of cell

A

myeloid

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44
Q

MPO - what type of cell

A

myeloid

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45
Q

what % of childhood cancer is acute leukemia

A

25%

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46
Q

favourable cytogenetics in acute leukemia

A

ETV-RUNX1 (TEL-AML), trisomy 4 and 10

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47
Q

translocation in Ph chromosome positive acute leukemia

A

t(9;22)

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48
Q

translocation in APML

A

PML-RARa, t(15;17)

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49
Q

which steroid is worse for causing osteonecrosis?

A

dex is worse than pred

50
Q

side effects of cisplatin

A

N/V, hypomagnesemia, hypokalemia, tubular dysfunction, hearing loss

51
Q

what is Li Fraumeni?

A

mutation in p53 - results in sarcomas, breast ca, medulloblastoma, adrenocortical ca

52
Q

What is Gorlin syndrome?

A

mutation in PTCH gene, causes basal cell ca, medulloblastoma

53
Q

What is DICER-1 syndrome?

A

mutation in DICER-1, causes pleuropulmonary blastoma, thyroid ca, ovarian ca, renal tumours

54
Q

what tumours do patients with NF1 get?

A

neurofibromas, nerve sheath tumours, optic nerve glioma

55
Q

B-symptoms

A
  • drenching sweats (w/i last month)
  • weight loss > 10% (x 6 months)
  • unexplained fever > 38C (within last month)
56
Q

what cell is characteristic of hodgkin’s lymphoma?

A

reed-sternberg

57
Q

Hemoglobin A - subunits

A

A2 B2

58
Q

Hemoglobin A2 - subunits

A

A2 delta 2

59
Q

Hemoglobin F - subunits

A

A2 gamma 2

60
Q

alpha globin genes on what chromosome?

A

chr 16

61
Q

beta, delta, gamma globin chains - on what chromosome?

A

chr 11

62
Q

How many normal hemoglobin types are there?

A 
SIX!
3 embryonic
fetal hemoglobin
HbA
HbA2
63
Q

Neonate and adult RBC lifespan

A

Neonate: 60-90 days
Adult: 120 days

64
Q

Effect of anemia on 2,3-DPG in RBCs and O2 saturation curve

A

anemia increases 2,3-DPG in RBCS

results in RIGHT SHIFT of O2 saturation curve (oxygen more likely to be distributed to tissues and less likely to saturate hemoglobin)

65
Q

PE features of DBA

A 
short stature
hypertelorism
snub nose
triphalangeal thumbs
absent radial pulse
66
Q

How can you distinguish DBA from TEC?

A

DBA - elevated RBC ADA activity, may have dysmorphic features, macrocytosis

67
Q

How do you treat DBA

A

Steroids after 6-12 mos of age

If unresponsive to steroids, then pRBCs + chelation

Can also do matched sib allogeneic transplant < 10 yrs - good outcomes but controversial

20% spontaneously remit in their first decade of life!

68
Q

What causes mortality in DBA?

A

Treatment (infections relating to steroid tx, iron overload)

Aplastic anemia, malignancy

69
Q

What age group of kids gets TEC?

A

6mo - 5 yrs

usually 1-3yrs

70
Q

TEC - other cell lines?

A

20% have neutropenia

Can have thrombocytosis

71
Q

When do kids recover from TEC?

A

1-2 mos

72
Q

Who gets aplastic crises with parvovirus?

A

children with hemolytic anemia conditions (HbSS, spherocytosis)

fetuses (congenital parvo), preterm infants

immunocompromised

(anyone with shortened RBC lifespan)

73
Q

What lab test differentiates anemia of chronic disease and iron deficiency anemia?

A

total iron binding capacity (serum transferrin) is normal/low in anemia of chronic disease and increased in iron deficiency

74
Q

Name three factors contributing to the physiologic anemia of infancy

A
  • Increased O2 at birth
  • Change in hemoglobin from fetal to adult (less affinity for oxygen, shift in O2 saturation curve to right)
  • decreased EPO production
75
Q

When does the physiologic nadir in HgB occur in the newborn?

A

8-12 weeks

76
Q

Why does the physiologic nadir occur earlier in pre-term infants? (3 reasons)

A
  • shorter RBC lifespan
  • less EPO upregulation (made by kidney in term infants, liver macrophages in preterm infants)
  • frequent blood sampling
77
Q

What are the other cell lines like in a megaloblastic anemia?

A

usually there is thrombocytopenia and leukopenia! (characterized by ineffective myelopoeisis)

78
Q

Where is Vit B12 absorbed?

A

ileum

79
Q

Where is folate absorbed?

A

jejunum

80
Q

ddx folate deficiency

A

increased requirements (hemolysis, pregnancy, growth)

decreased intake (malnutrition, powdered milk, goat’s milk)

malabsorption (jejunum - IBD, diarrhea, certain AEDs)

abnormal folate metabolism

81
Q

What test do you order to investigate folate deficiency?

A

RBC folate (more reflective of chronic deficiency)

82
Q

Lab values reflecting vit B12 deficiency

A

elevated homocyteine and methylmalonic acid (elevated urine MMA)

elevated LDH (as a marker of ineffective erythropoiesis)

thrombocytopenia, leukopenia

83
Q

PE findings of vit B12 deficiency (not anemia-related)

A 
glossitis
neurologic abnormalities (paresthesias, weakness, seizures)
84
Q

most common nutritional deficiency worldwide?

A

iron deficiency anemia

85
Q

non-hematologic side effects of iron deficiency

A

impaired cognition
impaired motor development
poor concentration
irritability

86
Q

What is pica?

A

the desire to ingest non-nutritive substances

87
Q

DDX of microcytic anemia that does not respond to iron supplementation

A
  • incorrect dose of iron
  • not taking iron
  • malabsorption
  • ACD
  • concurrent folate/B12 deficiency
  • bleeding
  • thalassemias
88
Q

When would you give IV iron?

A

malabsorption

poor compliance

89
Q

How much bovine milk should a child > 1 yr drink per day in order to prevent iron-deficiency anemia?

A

16-24 ounces per day

90
Q

Serum haptoglobin in hemolysis?

A

decreased

binds to free hemoglobin, cleared more rapidly when conjugated

91
Q

what pathogen can cause an aplastic crisis in a patient with hemolytic anemia, and how long does the aplastic crisis last?

A

parvovirus b19

typically lasts 10-14 days

92
Q

Why do RBC membrane abnormalities cause hemolysis?

A

Abnormal shape = less deformable = hemolyze in spleen

93
Q

HS is caused by mutations in what genes?

A

spectrin
ankyrin
band 3

94
Q

HS - PE and other findings

A

extra-medullary expansion
splenomegaly
pigmented gallstones

95
Q

DDX spherocytes

A 
HS
AIHA
Hemolytic disease of the newborn
Coombs + hemolysis
clostridial sepsis
Thermal injury
96
Q

What should a patient with chronic hemolysis take?

A

Folic acid 1mg per day

97
Q

What is Paroxysmal nocturnal hemoglobinuria?

A

RBCs are sensitive to complement, causes them to break down! results in intravascular hemolysis, hemoglobinuria

98
Q

What are two life-threatening things that patients with paroxysmal nocturnal hemoglobinuria at risk for?

A

thrombosis

aplastic crisis

99
Q

On what chromosome are the genes encoding alpha-globin?

A

chr 16

100
Q

On what chromosome are the genes encoding beta-globin?

A

chr 11

101
Q

Normal adult hemoglobin patterns

A

HbA > 95%
HbA2 < 3.5%
HbF < 2.5%

102
Q

HbSS - why is there an increased risk of bacterial infection? (two reasons)

A
  1. functional asplenia

2. deficient in alternative complement pathway serum opsonins against pneumococcus

103
Q

Criteria associated with increased risk of bacteremia in HbSS with fever

A
  • unwell appearing
  • hypotensive
  • fever > 40
  • WBC > 30
  • Plts < 100
  • hx of pneumococcal sepsis
  • severe pain
  • dehydrated
  • Hgb < 50
  • infiltrates on CXR
104
Q

Bugs causing osteomyelitis in HbSS

A

Salmonella

Staph aureus

105
Q

Clinical signs of splenic sequestration

A

Increase in spleen size
Hypovolemia
Drop in Hgb > 20 from patient’s baseline

106
Q

Treatment of splenic sequestration

A

Supportive care, IV fluids
consider small RBC transfusion (don’t want to over-transfuse, when blood returns to circulation can be hyper viscous and have stroke!)

Risk of recurrence highest within 6 mos post episode

Splenectomy - only way to prevent

107
Q

Stimuli for pain crises in HbSS

A 
physical stress
infection
dehydration
hypoxia
acidosis
cold
prolonged swimming
108
Q

Treatment of HbSS priapism lasting > 4 hrs

A

supportive therapy - sitz baths, pain medication

aspiration of blood from corpora cavernosa, irrigate with dilute epinephrine (urology consultation!)

109
Q

Management of stroke in HbSS

A

Urgent peds neuro consult
O2
Transfuse to Hb > 100
Consider exchange transfusion (to HbS < 30%)

110
Q

HbSS - CNS risks

A

Stroke
PRES
CSVT

111
Q

Reduction of stroke in HbSS

A

Transcranial doppler assessments - if abnormal, life-long transfusion therapy is initiated to keep HbS < 30%

(results in 85% reduction in rate of stroke!)

112
Q

How do you assess for iron overload in patients w/ HbSS on transfusion therapy?

A

MRI heart + liver

alternative: Ferriscan

113
Q

How do you treat ACS in HbSS?

A
  • oxygen
  • ceftriaxone + macrolide
  • incentive spirometry
  • pain management
  • avoid fluid overload
  • physio
  • consider t/f +/- exchange
114
Q

What two genotypes can cause Sickle Cell Anemia?

A

HbSS

HbS/b-thal 0

115
Q

What complications of sickle cell disease do patients with HbSC have more frequently?

A

Retinopathy
Splenic sequestration
Renal medullary carcinoma

116
Q

What complications are associated with HbSA (sickle trait)

A 
Renal medullary cancer
Hematuria
Splenic infarction
Exertional rhabdomyolysis
Exercise-related sudden death
Protection from falciparum malaria
Hyphema
Thrombosis
Recurrent spontaneous abortions
117
Q

HbAC phenotype

A

Asymptomatic

118
Q

HbSC phenotype

A

Less severe version of HbSS

119
Q

HbCC phenotype

A

Mild anemia, splenomegaly, pigmented gallstones

NO SICKLING
HbC causes hemolysis through disruption of RBC membrane

120
Q

What is Methemoglobin?

A

Hemoglobin that contains ferric iron (Fe 3+)

instead of ferrous iron, Fe 2+

121
Q

What can increase the methemoglobin percentage?

A

Nitrate exposures
G6PD
Medications (benzocaine, chloroquine, dapsone)

122
Q

How do you treat methemoglobinemia?

A

Methylene blue infusion

can’t use in G6PD!

Royal College Exam (32 decks)

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