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EOR 3 - Peds > Heme > Flashcards

Heme Flashcards

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1
Q

What kind of anemia is iron deficiency anemia?

A

hypochromic, microcytic anemia
elevated RDW
high total iron binding capacity

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2
Q

When is iron deficiency anemia screened for?

A

universal screening at 1yo

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3
Q

What is the treatment for iron deficiency anemia?

A

ferrous sulfate (3-6mg/kg/day) for 2 months

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4
Q

When is packed blood transfusion the treatment for iron deficiency anemia?

A

if there are signs of heart failure

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5
Q

What is the most common cause of anemia in young infants between 6 and 9 weeks of age?

A

physiologic anemia

decrease in erythropoiesis d/t increase tissue oxygenation

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6
Q

What is fanconi anemia?

A

an autosomal recessive pattern

hematologic abnormalities are noted around 7yo

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7
Q

How do pts with fanconi anemia present?

A

pancytopenia (thrombocytopenia normally comes first) (platelets, WBC, RBC)

cafe-au-lait spots
short stature
upper limb abnormalities
deafness

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8
Q

What is the dx for fanconi anemia?

A

bone marrow - patchy hypoplasia

chromosomal breakage analysis – increased DNA breakage when exposed to mytomycin C and diepoxybutane (DNA crosslinking agents)

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9
Q

What is the tx for fanconi anemia?

A

transfusion and ABX for infections

stem cell transplantation

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10
Q

Dyskeratosis congenita

A

mutations in genes in telomere function

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11
Q

How do pts with dyskeratosis congenita present?

A

Classic mucocutaneous traid:

  • luekoplakia
  • hypo/hyperpigmentation
  • nail dystrophy

early graying hair

lung and liver fibrosis, as well as cancer

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12
Q

How is dyskeratosis congenita dx?

A

telomere length testing - will be very short for age

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13
Q

Diamond -Blackfan anemia

A

autosomal dominant inheritance

mutations in ribosomal subunits

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14
Q

How do pts with diamond - blackfan anemia present?

A 
typically in the first 3 months of life 
macrocytic anemia 
poor feeding 
deafness 
short stature 
craniofacial abnormalities
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15
Q

How is diamond blackfan anemia dx?

A

macrocytic anemia

RBC with markedly increased adenosine deaminase activity

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16
Q

What is the treatment for daimond blackfan anemia

A

corticosteroids

stem cell transplant may be curative

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17
Q

What is spherocytosis?

A

congenital hemolytic anemia (cause of neonatal jaundice in the first 24 hours of life)

autosomal dominant inheritance

mutations that affect RBC membrane (spectrin and ankyrin)

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18
Q

How do pts with spherocytosis present?

A

acute aplastic event (parvovirus B19)
jaundice
splenomegaly
early gallstones

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19
Q

How is spherocytosis dx?

A

osmotic fragility test

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20
Q

What is the tx for spherocytosis?

A

symptomatic
folic acid
splenectomy

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21
Q

What is sickle cell anemia?

A

a autosomal RECESSIVe disorder
single point mutation (Glutamic acid to valine) on the beta chain

upon deoxygenation HbS polyermizes within RBC causing sickle shape

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22
Q

How is sickle cell dz dx?

A

in the US, universal newborn screen

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23
Q

How do pts with sickle cell dz present?

A 
functionally aslpenic (HOWELL JOLLY BODIES) develops as early as 3-6 months 
pneumococcal infections
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24
Q

Osteomyelitis is most commonly cause by what pathogen? How does this differ in pts with sickle cell anemia?

A

normally: staph aureus

SCD: SALMONELLA

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25
What is the treatment for SCD?
sepsis prevention: PCN prophylaxis started by 3 months of age immunizations Fevers >38.5 = medical emergencies RBC transfusion for acute splenic sequestration hydroxyurea - reduces hemolysis and increases levels of fetal Hgb stem cell transplantation could cure SCD
26
What is the difference between alpha thalassemia trait and disease?
Trait is 2 gene deletion Disease is 3 gene deletion normal trait = 4 alpha globin genes and 2 beta globin genes
27
What kind of labs will you see with alpha thalassemia?
microcytosis hypochromic anemia HEINZ bodies Howell Jolly Bodies
28
What is the difference between beta thalassemia major and trait?
point mutations major: most severe (homozygous) trait: least severe (heterozygous)
29
How do pts with beta thalassemias present?
major: frontal bossing hypersplenism trait: asymptomatic mild microcytosis noted on CBC
30
How do you dx beta thalassemias?
major: at birth only HbF later HbF and HbA2 no Bs ever
31
What is the treatment for beta thalassemia major?
lifelong blood transfusions --> goal is hypertransfusion to shut off erythropoeisis
32
G6PD deficiency
X-linked recessive disorder | incomplete protection against oxidative states
33
What is the MC human genetic mutation?
G6PD deficiency
34
How do pts with G6PD deficiency present?
acute hemolytic anemia after exposure to oxidative stress --> fava beans, sulfa drugs, infections acute fatigue, jaundice, pallor, dark urine
35
What kind of labs would you expect to see with someone who has G6PD deficiency?
normocytic, normocromic anemia, reticulocytosis BLISTER CELLS elevated LDH, bilirubin
36
Basophilic stippling
lead poisoning microcytic, hypochromic anemia
37
What is the treatment for lead poisoning?
dimercaprol followed by edetate calcium disodium oral succimer is an alternative
38
What is the most common hereditary bleeding disorder?
von Willebrand disease autosomal dominant
39
What is von Willebrand disease?
a protein deficiency that is needed for platelet adhesion
40
How do pts with von Willebrand disease present?
easy bruising | platelet type bleeding: dental and nasal bleeding, menorrhagia
41
How is von Willebrand disease dx?
PTT is normal or may be increased VWF antigen assay - increased bleeding time
42
What is the treatment for von Willebrand disease?
desmopressin (causes release of VWF from cells)
43
Idiopathic thrombocytopenia purpura
acquired autoimmune disorder that results in platelet destruction --> autoantibodies directed against platelets often follows viral illness MC in children than adults
44
How does ITP present?
thrombocytopenia in the absence of other bone marrow pathology petechiae, purpura, gingival bleeding menorrhagia, GI bleeding, intracranial hemorrhage
45
What is the tx for ITP?
corticosteroids and/or IVIG start tx if platelet count is <10,000 or if it is <20,000 + mucosal bleeding
46
ALL (what is it and who gets it?)
acute lymphocytic leukemia affected cell progeny fail to differentiate but continue to proliferate (definition of leukemia?) early LYMPHOID precursors overtake the bone marrow MC form of cancer in childhood (peak 2-5yo) M>F
47
How do pts with ALL present?
hepatosplenomegaly LAD bone pain
48
How is ALL dx?
Philadelphia chromosome panyctopenia hypercellular marrow
49
What is the tx for ALL?
chemotherapy induction | bone marrow transplant
50
AML (what is it and who gets it?)
Acute myeloid leukemia affect cell progeny fail to differentiate, but continue to proliferate early MYELOID precursors overtake the bone marrow 80% of leukemias in adults M >F
51
How do pts with AML present?
splenomegaly | gingival hyperplasia
52
How is AML dx?
AUER RODS on peripheral blood smear pancytopenia hyerpcellular marrow
53
What is the tx for AML?
more intensive and toxic than ALL tx chemo + BMT after remission
54
What is the difference between hodgkin and non-hodgkin lymphoma?
hodgkin: lymphocyte neoplasm - B cell ---associated with EBV non-hodgkin: lymphocyte neoplasm - B, T, follicular
55
Who gets hodgkins lymphoma?
bimodal peaks 15-19 and 50yo M >>F
56
Who gets non-hogkin lymphoma?
>50yo
57
How do pts with hodgkins lymphoma present?
painless LAD of upper central body EtOH may induce LN pain
58
How is hodgkins lymphoma dx?
Reed-Sternberg cells (Owl's eyes) on biopsy CXR - mediastinal mass
59
What is the treatment for hodgkins lymphoma?
radiation therapy if local | chemo if advanced
60
How do pts with non-hodgkins lymphoma present?
PERIPHERAL painless LAD Burkitt Lymphoma is a type of non-hodgkins --> starry sky appearance
61
What is the treatment for hemophillias?
replacement of the missing factor concentrate Hemophilia A = 8 Hemophilia B = 9 X-linked recessive (although 30% are new mutations) DDAVP/stimulate

EOR 3 - Peds (9 decks)

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