Hematology

Question 1

Hyperpigmentation of skin

Answer 1

Fanconi anemia, dyskeratosis congenita

Question 2

cafe-au-lait macules

Answer 2

Fanconi anemia

Question 3

Jaundice

Answer 3

Hemolysis

Question 4

Petechiae, purpura

Answer 4

BM infiltration, autoimmune hemolysis, autoimmune thrombocytopenia, HUS

Question 5

Frontal bossing of head

Answer 5

Thal major or Sickel Cell anemia

Question 6

Maxillary hyperplasia

Answer 6

Thal Major, sickel cell anemia

Question 7

Microcephaly and microphthalmia of eyes and ABSENT thumbs

Answer 7

Fanconi anemia

Question 8

Retinopathy of eyes

Answer 8

Sickle Cell Dx

Question 9

Glossitis

Answer 9

B12 Deficiency

Question 10

Hyperpigmentation of mouth

Answer 10

Peutz-Jeghers (GI blood loss)

Question 11

Telangiectasia of mouth

Answer 11

Osler-Weber-Rendu (GI blood loss)

Question 12

Leukoplakia of mouth

Answer 12

Dyskeratosis congenita

Question 13

Splenomegaly

Answer 13

SCD, thalassemia, immune hemolytic anemia, hereditary spherocytosis, leukemia, lymphoma, EBV, portal HTN

Question 14

Hepatomegaly

Answer 14

SCD, leukemia, lymphoma

Question 15

Absent radii

Answer 15

Thrombocytopenia-absent radius syndrome

Question 16

Triphalangeal thumb, shield chest, cleft lip

Answer 16

Diamond Blackfann

Question 17

Spoon nails

Answer 17

Fe deficiency: very rare

Question 18

What disease will you see Heinz bodies in? What are they?

Answer 18

In G6PD deficiency and thalassemia; it’s aggregate of denatured hemoglobin; also see bite cells

Question 19

When do we see Helmet cells?

Answer 19

THey are fragmented RBCs seen in traumatic hemolytic conditions: DIC, HUS or TTP

Question 20

When so we see basophilic stippling?

Answer 20

In lead poisoning, thalassemias; from ribosomal precipitates dispersed throughout the cytoplasm.

Question 21

When do we see Howell-Jolly bodies

Answer 21

These are seen in sickle cell and asplenic pts; its nuclear remnants or RBCs that the spleen usually removes

Question 22

What lab abnormalities are seen in ITP?

What treatment can we use?

Answer 22

Plats less than 20,000, otherwise normal CBC with normal bone marrow aspirate.
Mild ITP is self limited while significant bleeding you can use IVIG and corticosteroids

Question 23

15 mo old with recent viral illness develops pallor and goes into PCP. CBC shows HgB= 5 and retic = 0.2% with normal RBC adenosine deaminase levels. Dx and treatment

Answer 23

Transient erythroblastopnenia of childhood; triggered by viral infection; see profound anemia and reticulocytopenia but normal RBC ADA levels; may need 1 to 2 transfusions but this is self limited

Question 24

How do you tell the difference between Transient erythroblastopenia of childhood and Blackfann

Answer 24

Labs in TEC show low RBC and low retic as does Blackfann BUT TEC has normal RBC ADA while Blackfann has low ADA.
Also, TEC triggered by viral illness around 1.5-3 yo in otherwise healthy child while Blackfann presents at infancy with frontal bossing, triphalangeal thumbs, shield chest and short stature

Question 25

8 mo old with elevated hemoglobin H2 and mild microcytic anemia

Answer 25

B-Thal trait

Question 26

You have a high index of suspicion that your patient has G6PD defiency, he just came in with dark urine, jaundice and pallor after being treated with TMSX for an ear infection. What test do you order to confirm your diagnosis? What would you see on peripheral blood smear?

Answer 26

Order G6PD enZ activity… but wait several weeks AFTER the episode as patient will have transiently elevated G6PD as newly produced RBC will have normal amt of enZ
Smear shows Heinz bodies with bite cells

Question 27

What is the most common cause of retinoblastoma? Does t have a good rate? If inherited, what is the patient at increased risk for later in life?

Answer 27

Most common sporadic mutation and 90% of those cases will result in cure but often loss of vision in that eye. If inherited patient is at risk for soft tissues tumors later in life such as osteosarcoma or melanoma

Question 28

What is fetomaternal transfusion and how do you diagnosis it?

Answer 28

Patient has normal retic but will appear pale; often occurs at time of delivery. Test is the Kleinhauer Betke stain for fetal hemoglobin containing RBCs in mom’s blood.

Question 29

When do you see physiologic anemia of the newborn?

Answer 29

Seen 6–8 weeks of age: at birth erythropoeisis stops and you see progressive decline in HgB

Question 30

Which conditions present with spherocytes on peripheral smear

Answer 30

hereditary spherocytosis, G6PD deficiency, ABO incompatibility.
*Babies with neonatal hyperbili is seen in pt’s with hereditary spherocytosis

Question 31

How do you tell ABO incompatability and hereditary spherocytosis apart

Answer 31

Need to look at blood types of mom and baby as well as direct Coombs test on infant

Question 32

What factors are tested in PT test

Is PT prolongued or normal in Hemophilia A or B?

Answer 32

I, II, V, VII and X

NOT prolongued; hem A (def VIII) and Hem B is (IX) thus PT is normal

Question 33

What happens to PT, PTT and thrombin time in Vit K deficiency

Answer 33

Vit K is low II, VII, IX, X
will have prolongued PT, PTT but Thrombin time is normal as that is test for conversion of fibrinogen–>fibrin which is unaffected. Will also have normal plat count

Question 34

What is vWB role in clot formation?

What meds can help patient in bleeding episode with vWB?

Answer 34

clot formation by adhering to areas of vascular damage adn causes plats to attach and activate.
Use DDVAP or desmopressin to transiently increase levels of vWB

Question 35

How does osteosarcoma usually present? What does it look like on XRAY? What sydnromes is it associated with?

Answer 35

In second decade of life with localized swelling mostly in metaphyses of long bones. Sunburst on xray and associated with Li-Fraumeni, Paget or prior radiotherapy

Question 36

patient comes in with high suspicion for Hodkins, what initial test would you want to do? What would you do to confirm diagnosis?

Answer 36

Get a radiograph of chest; mediastinal mass increases likelihood for Hodgkins; especially in addition to findings of fever, weight loss, malaise and itching
Confirm with node biopsy

Question 37

What does a peripheral smear look like in child with folate deficiency

Answer 37

Hypersegmented PMNs