Lisa Heme 2 -13

Front 1

defect in protein attachment to RBC membrane
+ HAM; CD 55/59 neg
thrombotic episodes
Hi coaguable state, risk of aplastic anemia or ANLL/leukemia

Back 1

Paroxysmal Nocturnal Hemoglobinuria

Front 2

If a sicke cell kid has microcytic anemia, what's cause?

Back 2

Either iron def or Beta THal

Front 3

anemia, ~ goat milk nitake, malabsorption, chemo, methortrexate, phenytoin, Crohns

Back 3

Folate; need to r/o B12 def

Front 4

Poor absorption of B12: GI d/o IBD, instrinsic factor; what test? and path?

Back 4

Vitamin B12 def; Schilling test, Cobalmin,

Front 5

weakness, paresthesia, sore tongue, impaired B12 absorption

Back 5

pernicious anemia: no intrinsic factor

Front 6

what is only hemolytic anemia that doesnt have a hi retic count?

Back 6

parvo virus ~ aplastic anemia

Front 7

X linked, black/Med boy; dark urine, jaundice, anemia;
-sudden, pallor, anemia
+ Heniz bodies, bite cells, spherocytes, anisocytosis

Back 7

G6PD

Front 8

mild/moderate anemia, splenomegaly, intermit jaundice, gallstones
? genetics behind increased MCHC, and cause
+ osmotic fragility test

Back 8

Hereditary Spherocytosis
AD
-defect in surface of Red cell

Front 9

common complx w/ HS

Back 9

Parvo B19, aplastic crisis

Front 10

Sx: anemia, jaundice, splenomeg
-Neg Osmotic frag test;
? genetics and cause

Back 10

Pyruvate Kinase Def
-AR
block in red cells energy producing pathway: no lactate and ATP;

Front 11

have fxnl asplenia by 5 ; sx > 6 mo, + NB screen; gallstones;
what prophylaxis need? and cause?

Back 11

sickle cell anemia- Glutamic acid replaced by valine
-need PCN progphlaxis until 5 yo
-pneumococcal vacc @ 2 yo (PPV)

Front 12

if palpable spleen

Back 12

then either Hgb SC or sickle w/ THal):

Front 13

Sx: anemia (pallor), low WBC (mucosal ulcers), low platelet (ecchymoses, bruises, petechiae)

Back 13

Aplastic Anemia; Increase in fetal Hgb and macrocytosis
-DX: bone marrow Bx
-due to suppression of red cell line in BM;

Front 14

what’s most common complx of sickle cell diz in 8 mo? and what’s most common cause: dehydration!! what's tx?

Back 14

Dacytilitis: vaso-occlusive crisis acute pain due to ischemia/infarction; warm hands/feet: dactylitis,F, leukocytosis;
-cause: dehydration

Front 15

Tx of sickle cell pt w/ shock picture: due to pooling of blood in liver/spleen due to infx; leading cause of death besides infx : sudden weakness, dyspena, abd distensions, pallor, shock;

Back 15

transfuse/hospitalize; sequestration crisis

Front 16

drop in Hct (also ~ w/ HS) in a sickle cell pt due to ?

Back 16

Aplastic crisis: due to parvo

Front 17

5. Acute Abd pain: F, guarding, Leukocytosis, RUQ in sickle cell pt

Back 17

acute cholecytistis due to increased Bili

Front 18

CP, infiltrate, hypoxia in sickle cell, what do next and tx?

Back 18

Acute Chest :ABG to confirm hypoxia (not O2 sats); Tx: transfuse
-a. If w/ F, cough, CP: tx for PNA and pulm infarct
b. CVA: stroke: transfusion w/ MRI; and if you haven’t diagnosed sickle cell ; get hgb electrophoresis to dx problem

Front 19

Short, Triphalangeal thumbs, Renal, skeletal, cardiac abnl ;
Craniofacial probs
-Macrocytic anemia ; hi Fe, ferritin, folic acid, B12, epo
Hi Hb F
When presents? DX? complx?

Back 19

infancy - dBAby
DBA: Diamond blackfan anemia ; arrest in maturation of red cells

Front 20

? DX DBA

Back 20

Hi RBC ADA (adenosine deaminase

Front 21

Nl exam; pallor, anemia, otherwise healthy toddler, Normocytic anemia
-Nl ADA, ~ what? and tx?
- Low retic initially, low hgb

Back 21

TEC: ~ Parvo virus
- Low retic initially, low hgb
Tx: nothing

Front 22

Short; Upper limb anbl: absent or hypoplastic thumb
Hypo/hyper pigmentation
FA facies : epicanthal folds, broad nasal base, microgntahia; renal abnl
-what age presentation, DX?

Back 22

Fanconi's anemia
age: mid-childhood marrow dysfunction; AR
macrocytic; skin and age presentation (vs DBA)

Front 23

Dx Fanconi's? and complx?

Back 23

macrocytic; Hi HbF
**DEB : chromosomal breakage test
-Severe Aplastic anemia, leukemia
(Fan made up of ice cream cones (chops off thumbs/feet-short), while spraying pigment all over room; which turns toilet into hard plastic (urine retention)

Front 24

** if mention dark urine or + Coombs, ?

Back 24

hemolytic process not DBA or TEC

Front 25

frequent infx, eye and skin , hair ablinism/hypopigmentation (blond/blue eyes), easy bruisability,
-Lung/skin infx: Staph a. s. pyogenes, pneumococcus
Cz, DX?

Back 25

Chediak-Higashi Syndrome
DX: blod smear: giant neutrophil granules; defects in neutrophils, monocytes, lymphoctes, NK cells

Front 26

Tx of Chediak higashi

Back 26

Tx: BMT (or death by < 10)

Front 27

no abnl in neutrophil count or chemotaxis
-PNA, empyema, lung abscess
-recurrent bacterial, fungal infx : skin, lungs, GI, liver, spleen
-recurrent staph, serratia, aspergillus or grm neg infx;
HPSM
What's dx, how dx, cause?

Back 27

Chronic Granulomatous Diz : phagocytic d/o – cant kill bugs they ingest
-no abnl in neutrophil count or chemotaxis
DX: NBT, measures oxidative burst or Dihydrorodamine reduction

Front 28

genetics of CGD and TX

Back 28

AR ; BMT, infx prophylaxis, INF

Front 29

Hi WBC (> 20) in absence of infx that increases to 40-100 w/ infx
-present first few months of life; delayed separation of umbilical cord, impaired wound healing, severe periodontal diz

Back 29

Leukocyte Adhesion Deficiency
-movement – problem: umbl cord – don’t move, ambulance don’t arrive ( poor wound healing), jaw don’t move: severe periodontal diz

Front 30

Neutropenia Define and what's associated w/

Back 30

ANC < 1000 in first yr, and < 1500 (after 1 yo);
Mild: ANC 1000-1500;
Mod: 500-1000;
Severe < 500; grm neg infx – skin, mucosal linings or GI tract; ulcerations ~ neutropenia

Front 31

congenital causes of Neutropenia

Back 31

cyclic, severe congenital: Kostmann, benign neutropenia and shwachman – diamond, chediak Higashi)

Front 32

Aq'd Neutropenia causes

Back 32

infx, drugs: macrolids: azithro/clarithromycin

Front 33

drop in WBC during viral/febrile illness, lasts couple days and tx?

Back 33

Transient Neutropenia
→ do nothing, repeat CBC in a few wks will normalize

Front 34

< 10 yo, q mo- neutropenia x 1 wk, Fever, ~ oral lesions; furuncles, ~ C. perfringes infx (pefumegin: oral lesions giving off odor)
? cause, genetics

Back 34

Cyclic Neutropenia, AD

Front 35

Usually 8-11 months; most < 3 yo; increased minor infx, + Anti-neutrophil ab
-incidental finding, rarely have oral ulcers, outgrow by 2-3 yo
? cause and treatment

Back 35

Chronic Benign Neutropenia/ “Lazy leukocyte
spontaneous remission (~like ITP, TEC)

Front 36

-ANC –remains low (< 300); F, frequent severe infx in 1st few months of life: omphalitis, somatiis, perirectal abscess;
-When present?

Back 36

Kostman Agranulocytosis: “severe congenital Neutropenia”: arrest in development of neutrophils
-infancy
(vs cyclic enutropenia –rises to nl as cycle ends)

Front 37

Genetics of Kostman, DX? adn Tx?

Back 37

AR
DX: BM: developmental arrest; no mature neutrophils ; TX: antbx, GCSF, BMT;
leukemia risk

Front 38

Neutrophenia, Panc insufficiency, pancytopenia , skeletal problems (clinodactyly syndactyly), diarrhea, recurrent infx , URI, skin ; CF picture w/ bone problems, but normal Sweat and Neutropenia; nl Lytes, no pulm probs

Back 38

Swhacman-Diamond
Syndrome

Front 39

thrombocytopenia

Back 39

Platelet abnl: < 150,000

Front 40

Viral → low plt, bruising, petechiae, low number plt, but big size

Back 40

ITP
TX: IVIG or Winrho; tx if plt < 20 K

Front 41

TIE: thrombocytopenia, Infx (bad diaper rash) /immunocompromised, Ezcmea; small plt
what's Tx?

Back 41

WAS: Wiskott-Aldrich Sndrome
~malignancies
Tx: BMT

Front 42

WAS genetics?

Back 42

X-linked recessive (mainly boys)

Front 43

Hemangioma, decreased plt due to hemangioma eating heme
~DIC; normal Bone marrow

Back 43

Kasabach-Merritt Syndrome

Front 44

Hi WBC , no Radius, low PLt
-symptomatic by 4 mo

Back 44

TAR: thrombocytopenia Absent Radius
Hi WBC (vs DBA, Fanconi),

Front 45

functional plt problem (can’t aggregate): bleeding w/ nL plt count and normal PT/PTT

Back 45

Glanzmann Thrombasthenia

Front 46

Nl PLt, low hgb, infancy, upper limb and thumb abnl
-? present

Back 46

DBA; infancy

Front 47

LOW PLt, low hgb, infancy, upper limb and thumb abnl
? present?

Back 47

Fanconi: mid childhood

Front 48

No radius but normal thumb, Low plt, Nl Hgb, ? present

Back 48

TAR, infancy

Front 49

Vit K Dependent Factors

Back 49

2,7,9,10 : 7 7 (7 + 2 = 9), 10 ~ PT : deficiency in vit K factors → hi PT
KEPT: vitm K, extrinsic pathway PT

Front 50

causes of Early onset Vit K dependent bleeding

Back 50

Meds: anticonvolusants, coumadin, antbx ~ vit K bleding
-Places: venipuncture sites, penis > circ; mucous membranes, GI
- BF baby born at home, bleeding @ 1 wk (no Vit K given)

Front 51

boys; + FH of boys on maternal side (carrier)
- HI PTT ; Nl PT
-neonates: bruising, bleeding from circ, or venipunc site; older kids: deep joint bleeds, hemotomas w/ Vit K shot
-? Genetics, calculate risk of having another child?

Back 51

Hemophilia; X linked recessive -8, 9 (a, B)
-risk of boy: 1/2 boys affected;
-25% affected child
25% Kids will be carries: girls (1/2 girls carries)

Front 52

malign, sepsis, burn
DX: LOW PLT, LOW fibronogen, HI D-dimers, HI thrombin

Back 52

DIC

Front 53

excessive bleeding > dental procedure or tonsillectomy, epistaaxis, eg: girl w/ menorrhagia
-DX? genetics, tx?

Back 53

vWF def (von WiTT) ~PTT
-AD, girls can get

Front 54

vWF def : Dx and tx ?

Back 54

DX: NL plt, HI PTT ( NL PT),
- HI BT, low vWF;
TX:usually None, minor: DDAVP, Factor 8 (major) and VWF, cryo