Heme

Question 1

Baby with severe thrombocytopenia with normal maternal platelets. Next step?

Answer 1

Get HUS, Plt transfusion, and IVIG

Neonatal Alloimmune Thrombocytopenia
Production and transfer of maternal alloantibodies against paternally inherited antigens on fetal platelets
Intracranial hemorrhage in 10 to 15% of cases
› Normal coagulation testing
› Most common cause: Incompatibility in HPA-1 (PLA-1)

Question 2

Baby and mother with thrombocytopenia. Which is the most common disease in mother?

Answer 2

ITP

Think autoimmune.

Milder neonatal thrombocytopenia

Tx IVIG
Only give platelets random donor if bleeding (avoid if possible)

Question 3

Neonates have _____ clotting time as compared to adults

Answer 3

Shorter clotting time

Question 4

Male with prolonged PTT and bleeding. Dx?

Answer 4

Hemophilia A, Deficiency factor VIII
X linked recessive

Question 5

Bleeding in a noonan infant. Which dx?

Answer 5

AR, Factor XI

Question 6

Bleeding in a neonate, umbilical stump. Clotting studies are normal. Dx?

Answer 6

Factor XIII

Question 7

Reason for anemia of prematurity

Answer 7

Low epo production
Insufficient placental transfer of iron
Short survival of fetal and neonatal RBC
Phlebotomy losses

Question 8

Which type of platelet transfusion should be ordered for pt with suspected NAIT?

Answer 8

Random donor plts

Question 9

Enzyme responsible for enterohepatic bilirubin circulation

Answer 9

Β glucuronidase- deconconjugates bilirubin which allows for its réabsorption in the intestine

Question 10

What enzyme catabolizes biliverdin to unconjugated bilirubin in the RES of spleen, liver and bone marrow?

Answer 10

Biliverdin reductase

Question 11

Thrombocytopenia is inversely correlated with gestational age.
T or F

Answer 11

True

Question 12

Irradiation of prbcs is done to prevent _______?

Answer 12

Graft vs host disease

Side effect: hyperkalemia

Question 13

How does hbg F differ from maternal hgb in KB test?

Answer 13

Resistance to acid elution

Question 14

What is the clinical presentation of TMD (Transient Myeloproliferative Disorder), lab findings

Answer 14

Typically asymptomatic, may present w/ HSM (MC presenting sign), effusion, bleeding, petechiae
Leukocytosis, neutrophilia, thrombocytopenia, blasts on smear
10% of T21 patients
Chemo reserved for hyperviscosity- does NOT prevent leukemia reoccurence
Usually self limiting, resolve by 2 mo

Question 15

Fetal megakaryocytes are smaller than adult megakaryocytes, but there are a larger number circulating in fetuses compared with adults

T or F

Answer 15

TRUE

Question 16

Stem cells originate from ______

Answer 16

Mesoderm

Question 17

Where does early activé hematopoiesis occur?

Answer 17

Secondary yolk sac
(2-6 weeks)

Déclines after 8 weeks

Question 18

When does the liver become the primary site for hematopoiesis?

Answer 18

Primary site: 6-22 weeks’ gestation

Question 19

Which red blood cell indices INCREASE with increasing gestational age?

Answer 19

RBC Number
Hématocrit
Reticulocytes (peaks at 26-27 weeks) then declines

Question 20

Which red blood cell indices DECREASE with increasing gestational age?

Answer 20

MCV
Nucleated RBC

Question 21

Complications of hemangiomas

Answer 21

Hypothyroidism- if involves thyroid (2/2 ⬆️ in type 3 iodothyronine deiodinase)
High output ❤️ failure - if involves liver

Question 22

Describe the triad in Kasaback-Merritt Syndrome

Answer 22

High output heart failure, DIC and thrombocytopenia

Question 23

What does leukocyte reduced RBC blood prevent?

Irradiated RBC?

Answer 23

CMV

Graft vs host reaction

Question 24

Delayed cord clamping decreases _______

Answer 24

Need for transfusion

Question 25

What percent of iron stores are accrued in 3rd trimester

Answer 25

80% Iron content in term baby 75mg/kg body weight

Question 26

How can a neonate have a normal G6PD enzyme levels yet be deficient later in life?

Answer 26

Significant Hemolysis leads to increased reticulocytes that have normal enzyme levels.

Question 27

What is the differential for late onset thrombocytopenia

Answer 27

Sepsis (bacterial, viral, fungal) NEC IEM (propionic acidemia, methylmalonic acidemia, Gauchers)

Question 28

What is the role of hepcidin in fetal iron transfer?

Answer 28

Hepcidin is a key regulator of maternal - fetal iron metabolism Maternal hepcidin exerts negative effect on iron absorption and placental transfer Fetal hepcidin can downregulate placental iron delivery once its needs are met Hepcidin levels will decrease throughout pregnancy to allow more iron absorption

Question 29

Low fetal iron stores occur with what maternal conditions ?

Answer 29

``` Placental insufficiency Diabetes Severe stressors Obesity Chronic illness ``` *increased maternal hepcidin levels —> decreased placental iron transfer (endowment)

Question 30

What metabolic derrangements are associated with polycythemia?

Answer 30

Hypoglycemia Hypocalcemia Thrombocytopenia

Question 31

What are the features of hepatoblastoma?

Answer 31

Abdominal mass - MC in RIGHT lobe Thrombocytosis Elevated AFP (>90%) - low levels can indicate poor prognosis

Question 32

Baby with macrocytic anemia, reticulocytopenia, increased RBC adenosine deaminase, increased RBC Hb F and I antigen, triphalangeal thumb. Dx?

Answer 32

Diamond Blackfan Anemia

Question 33

What is the bilirubin:albumin ratio?

Answer 33

Measure of bili binding capacity of albumin Surrogate to estimate free bili Increases with increasing GA <0.8 in healty term neonates

Question 34

How to test for G6PD?

Answer 34

Decreased NAPDH levels Enzyme active <30% of normal is confirmatory Common in mediterranean, african, asian descents X linked recessive Heterozygotes- protected against malaria

Question 35

Whai is neonatal auto immune thrombocytopenia?

Answer 35

Mother + baby with decreased platelet Caused by maternal auto antibodies (MC in Mommy’s with ITP or lupus)

Question 36

MC tumor of the kidney

Answer 36

Congenital mesoblastic nephroma

Question 37

Where is epo primarily produced in the fetus? Does EPO cross the placenta? does epo admin decrease blood donor exposure? | In preemies,

Answer 37

Liver NO NO

Question 38

5 or more cutaneous hemangiomanas. Next best step?

Answer 38

Hepatic US AV shunting of blood through large hepatic hemangiomas can lead to CHF Rarely seen is a consumptive form of hypothyroidism with HH. Excessive production of type 3 iodothyronine deiodinase leading to inactivation of thyroid hormones

Question 39

The ratio of B/A (bilirubin to albumin) can be used as a surrogate for unbound bilirubin T or F

Answer 39

True | As part of multi factorial analysis

Question 40

What are the 3 types of hemorrhagic disease of the newborn ?

Answer 40

Early (within 24 h) Placentally transferred drugs that inhibit Vit K production (anticonvulsants, cephalosporin, warfarin) Classic (DOL 2-7) Bleeding from umbilical stump or after invasive procedure Vit K stores < Vit K intake *Exclusively breastfed at ⬆️ risk Late Onset (2w - 6mo) ⬆️ boys, in summer Poor enteral intake Vit K or liver disease

Question 41

Hemolytic anemia w/ normocytic, normochromic, appropriate RC response, Amish

Answer 41

Pyruvate Kinase deficiency

Question 42

Sacrococcygeal Teratoma: classification, girls vs boys, risk of recurrence?

Answer 42

- Classified Mature (most neonatal) or immature (high malignant potential) - More common in girls - Sporadic - RIsk of recurrence 10%, malignant transformation 15-20%

Question 43

Predominant source of EPO in the fetus

Answer 43

Liver Switchest to kidney 3rd trimester Hepatic source>renal source

Question 44

Congenital Leukemia increased risk w/ which diagnoses? lab findings? skin findings?

Answer 44

Fanconi's Anemia, Diamond Blackfan, T21 >100,000 WBC Palpable cutaneous nodules "leukemia cutis"

Question 45

Factor IX deficiency

Answer 45

Hemophilia B Christmas Disease X linked recessive

Question 46

Factor XI deficiency

Answer 46

Hemophilia C AR Associated w/ Noonan, greater incidence ashkenazi Jews

Question 47

Factor XIII deficiency

Answer 47

AR Normal routine clotting studies

Question 48

Von Willebrand Disease- genetics, function

Answer 48

AD or AR Component of Factor VIII, ligand b/w plt and vessel

Question 49

TAR Syndrome

Answer 49

AR BL absence radii/ulnar; normal thumbs/digits Blockage in differentiation of early megakaryocyte precursor--> dec plt production. Normal Thrombopoietin and receptors Associated with CHD, usually TOF

Question 50

Embryonic hemoglobins

Answer 50

Gower 1 Gower 2 Portland Zeta and epsilon switch to alpha and gamma to make HbF

Question 51

Kleihauer Betke test

Answer 51

Fetal blood detected in maternal blood

Question 52

Alpha thalassemias: 4 types

Answer 52

Missing 1: carrier Missing 2: trait Missing 3: HbH- has heinz bodies Missing 4: Barts Hb More common in african, mediterranean, asian populations

Question 53

Hereditary Spherocytosis genetics, test

Answer 53

AD Osmotic fragility test

Question 54

Partial Exchange blood volume formula

Answer 54

Pt's HCT-desired Hct/pt Hct x infant's Blood volume