Heme/Onc Flashcards
Primary site of hematopoiesis in fetus (in order)
Secondary yolk sac (until ~10 weeks)
Liver (6-22 weeks)
Bone marrow (after 22 weeks)
Predominant cell type in fetal liver
Mature macrophage
HgF made of which global chains
Alpha 2 gamma 2
HgA made of which global chains
Alpha 2 Beta 2
Which thalassemia detected at birth
Alpha thalassemia (HgF has alpha chains but no beta chains so don't notice beta thal until ~6 months when HgA predominant)
Absence of 1 alpha gene
Silent carrier
Absence of 2 alpha genes
Alpha thal trait = mild microcytosis, hypochromia, may be asymptomatic
Absence of 3 alpha genes
Hb H
moderately severe hemolytic anemia, Heinz bodies
Absence of 4 alpha genes
Hemoglobin barts
hydrops fetalis
Frontal bossing, maxillary hypertrophy, severe anemia
Beta thalassemia disease (homozygous) or Cooley anemia
Most common hemoglobinopathy in the world
Hemoglobin E
Decreased production of beta chains, resulting in chronic, mild, microcytic anemia
FA vs FAS vs FSA
FA normal
FAS sickle cell trait
FSA sickle B+ thalassemia
FS
Sickle cell anemia, sickle beta 0 thalassemia, sickle with hereditary persistence of hemoglobin
Kleihauer-Betke vs Apt test
KB on maternal blood, detects fetal blood
Apt test on fetal sample, detects maternal blood
Triphalangeal thumbs + macrocytic anemia
Diamond Blackfan and Fanconi anemia
Radial hypoplasia
Fanconi anemia and TAR
in TAR, thumbs and digits are developed normally
Hypersegmented neutrophils
Vitamin B12 and folate deficiency
Most frequently inherited enzyme defect
G6PD deficiency
G6PD catalyzes which process?
G6P to pentose phosphate and makes NADPH
Pyruvate Kinase catalyzes which process?
PEP to pyruvate and makes ATP
Normal paO2 but decreased oxygen saturation
Methemoglobinemia
Maternal platelet count in NAIT vs Neonatal autoimmune thrombocytopenia
Normal vs low
Bleeding with prolonged PTT
Hemophilia A or B
A in 70% cases
Bleeding with normal coagulation studies
Factor XIII (Autosomal recessive)
Bleeding with abnormal BT +/- prolonged PTT
vWF disease (AR or AD)
Bleeding with prolonged PT and normal PTT
Vitamin K deficiency
if extended time, PTT will also be prolonged
MC solid tumor in the neonatal period
Teratoma
What do ceftriaxone, sulfonamides and indomethacin do to bilirubin?
Bind albumin and displace bilirubin, increasing indirect hyperbilirubinemia
Hemangiomas + thrombocytopenia
Kasabach Merritt syndrome
(Coagulation activated locally within the hemangioma and platelets are sequestered)
Only 50% infants have visible hemangioma
chromosomal fragility and breakage
Fanconi’s anemia
First line treatment for NAIT
random donor platelets
IF ineffective, HPA-1a negative donor
IVIG and steroids may help reduce immune mediated destruction
Early onset hemorrhagic disease of the newborn
Within 24 hours
Placental transferred drugs that inhibit vit K ie anticonvulsants, cephalosporins, warfarin, barbiturates, rifampin, isoniazid
Classic hemorrhagic disease of the newborn
2-7 days
Late onset hemorrhagic disease of the newborn
2 weeks to 6 months
MC in boys, summer
Poor enteral intake of Vitamin K or liver disease
Leukocytosis with neutrophilic, thrombocytopenia and blasts
Transient myeloproliferative disease
5-10% infants with T21
Typical symptoms of infants with Transient myeloproliferative disease
Typically asymptomatic
can have HSM, effusions, bleeding or petechiae
Prognosis of Transient myeloproliferative disease
60-70% cases resolve spontaneously by 2 months
20% affected infants will develop AML
NAIT vs Rh disease, which can occur in 1st pregnancy?
NAIT
Recurrence rate >75% in subsequent pregnancies
Where is EPO made in the fetus?
Fetal liver (primarily) and kidney
When does most Fe transfer to the fetus occur?
After 30 weeks (accrued at 1.6-2 mg/kg/d)
Hypopigmented and hyperpigmented skin lesions, photosensitive malar rash, mild craniofacial dysmorphisms, high pitched voice
Bloom’s syndrome
Size and amount of megakaryocytes in adult vs fetus
Fetus - smaller but greater number circulating (still only 0.03-0.1% of nucleated cells in the BM)
<12 months + neuroblastoma = favorable or unfavorable prognosis?
Favorable
MC renal malignancy of children
Wilm’s tumor
Wilm’s tumor associated with which syndromes
BW syndrome
Denys drash (progressive renal disease, male pseudohermaphroditism)
Pearlman (fetal gigantism, visceromegaly, abnormal facies, b/l renal hamartomas)
WAGR (Wilm’s, aniridia, genitorurinary, mental retardation)
Heme oxygenase catalyzes which step
Heme to biliverdin
Biliverdin reductase catalyzes which step
Biliverdin to bilirubin
Can placenta remove indirect bilirubin? Biliverdin?
Bilirubin but not biliverdin
MC site of bleeding in hemorrhagic disease of the newborn
GI tract
Why is irradiated blood used?
Prevents GVHD
How to decrease risk of CMV in blood?
Leucodepleted
What shifts oxyhemoglobin curve to right and does that increase or decrease affinity?
Inc temperature, acidosis (dec pH), altitude, 2,3-DPG, Bohr effect
Inc offloading ie decreases affinity
Rh blood system consists of
C, c, D, E, e, G antigens
Albumin binding to bilirubin decreased by
Sepsis, acidosis, hypoxia, free fatty acids, albumin-binding drugs ie. Ceftriaxone
albumin = 2.5 is a risk factor
Irreversible sign of kernicterus
Opisthonus
Most severe of minor antigens
Kell
Nitrites, aniline dyes, prilocaine, nitrous oxide
Acquired methoemloglobinemia
Congenital methemoglobinemia tx
do NOT respond to methylene blue
Family history of parent with intermittent cyanosis
Congenital methemoglobinemia (AD)
Pure red cell aplasia
Diamond Blackfan Anemia (macrocytic)
Total blood volume to be exchanged in polycythemia
([hematocrit observed - desired) x blood volume] / hematocrit observed
Bleeding disorder ass with Noonan
Hemophilia C
Purpura fulminans
Protein C or S deficiency
Term infant with IVH, look for?
Cerebral sinovenous thromboses –> get MRI
When use TPA
limited to life or limb threatening thromboses
Which criggler najjar responds to phenobarbital?
Type II
What to do when infant showing advanced stages of acute bilirubin encephalopathy
EXCHANGE- DVET (80-100 mL/kg/day x 2)
Firm subcutaneous nodules bluish gray
leukemia cutis –> neonatal leukemia
