MISSED HEME

Question 1

Most common cause of priapism in children?

Answer 1

sickle cell disease

Question 2

PCT has defective

Answer 2

uroporphyringogen decarboxylase, prophyrins accumulate in the skin causing photosensitization.

Blisters, urine appears red or brown (dark colored), pigmentation on skin.

Assocatiated with excessive alcohol use, Hep C, excess iron, estrogen use, HIV, smoking.

Question 3

Acute Intermittent Porphyria Clinical Manifestations

Answer 3

5 P’s

Painful abdomen
Polyneuropathy
Port wine urine
Precipitated by drugs, starvation and alcohol
Psych symptoms

Question 4

Enzyme with AIP

Answer 4

Porphobilinogen deaminase

Question 5

Increased Homocysteine but normal MMA

Answer 5

Folate deficiency, macrocytic anemia

Question 6

AMS, constipation, headaches, isolated motor neuropathies (wrist and fingers), Memory loss

Answer 6

Lead poisoning

Question 7

terrible nutrition from poor diet, alocholics, hypersegmented neutrophils, normal MMA, increased homocysteine

Answer 7

Folate Deficiency

Question 8

Where is folate absorbed?

Answer 8

jejunum

Question 9

Increased Homocysteine, Increased MMA with neuropsych symptoms, hypersegmented neutrophils

Answer 9

B12 deficiency, Macrocytic anemia

Question 10

Howell Jowell Bodies associated with

Answer 10

Hereditary spherocytosis –> normocytic anemia

Question 11

See Heinz bodies or bite cells think

Answer 11

G6PD deficiency –> normocytic anemia

Question 12

Defect in PIGA gene = decrease in CD55 (DAF) + CD59

Answer 12

Paroxysmal nocturnal hemoglubinuria - normocytic anemia

Question 13

low iron, low hepcidin, increased ferritin, decreased TIBC

Answer 13

Anemia of Chronic Disease

Question 14

In Beta thal major, what do you see?

Answer 14

HBF increased
HBA2
NO HBA!!!
Target Cells
Crew cut skull on xray
chipmunk facies
2 deletions

Question 15

In alpha thal, 2 deletions with mild anemia.. Asians have a

Answer 15

CIS deletion

Question 16

In alpha thal, 2 deletions with mild anemia.. Africans have a

Answer 16

TRANS deletion

Question 17

Increased iron, Increased ferritin,decreased TIBC

Answer 17

Sideroblastic anemia

Question 18

pt with TB taking isoniazid/b6 or ALA synthase deficiency, or lead poisoning

Answer 18

Sideroblastic anemia

Question 19

what syndrome is associated with Iron Deficiency

Answer 19

Plummer Vinson Syndrome

Question 20

decreased iron, Decreased ferritin, increased TIBC,

Answer 20

Iron deficiency anemia

Question 21

symptoms of severe anemia, pallor, fatigue, cyanosis, webbed neck, cleft palate, triphalangeal thumbs

Answer 21

Diamond Blackfan anemia

Question 22

ineffective erythropoiesis, and patients typically present within the first year of life with a nonmegaloblastic, macrocytic anemia and structural defects. Decreased reticulocytes and increased fetal hemoglobin

Answer 22

Diamond Blackfan anemia

Question 23

early childhood, failure to thrive, delayed development, and a megaloblastic macrocytic anemia that does not improve with supplementation of folate and vitamin B12.

Answer 23

orotic aciduria

Question 24

autosomal recessive defect in uridine monophosphate synthase

Answer 24

orotic aciduria –> elevated orotic acid in serum

Question 25

autosomal recessive defect in DNA repair mechanisms, can cause normocytic or macrocytic anemia. Have pancytopenia (decrease in all blood lines, red blood cell, white blood cell, platelets) and thrombocytopenia and leukopenia. Have structrual defects like absent thumbs, short stature, skin hyperpigmentatoin.

Answer 25

Fanconi anemia

Question 26

pure red cell aplasia

Answer 26

Diamond black fan

Question 27

dactylitis seen in what?

Answer 27

sickle cell

Question 28

sickle cells is what penetrance

Answer 28

autosomal recessive

Question 29

hemolytic anemia, jaundice, splenomegaly think

Answer 29

Hereditary Spherocytosis.. Will probably see spherocytes on peripheral blood smear as well.

Question 30

increased lactate dehydrogenase, increased total bilirubin, increased reticulocyte count and decreased haptoglobin level show

Answer 30

signs of hemolysis --> hereditary spherocytosis

Question 31

extracellular iron deposition in the heart is associated with

Answer 31

herediatry hemochromatosis. In the heart, iron deposition can result in heart failure caused by dilated or restrictive cardiomyopathy.

Question 32

what is dystrophic calcification?

Answer 32

age related calcifications likely due to aortic stenosis

Question 33

Spoon shaped nails (koilonychio) atrophic glossitis with atrophy of lingual papillae, weakness, fatigue, pallor, and dyspnea

Answer 33

iron deficiency anemia

Question 34

triad of iron def anemia, dysphagia, and cervical esophageal web is known as

Answer 34

plummer vinson syndrome --> increased risk for esophageal squamous cell carcinomas

Question 35

Gain of function mutations in JAK2 result in

Answer 35

Polycythemia Vera

Question 36

how to tx osteomyelitis in sickle cell disease?

Answer 36

vancomycin + ciprofloxacin

Question 37

fatigue, conjunctival and mucosal pallor, glossitis, spoon nails, pica

Answer 37

Iron deficiency anemia

Question 38

iron studies in iron deficiency anemia

Answer 38

decreased serum iron decreased serum ferritin increased transferrin decreased transferrin saturation increased total iron binding capacity

Question 39

target cells seen in what?

Answer 39

HALT: HbC disease Asplenia (splenectomy) Liver disease Thalassemias

Question 40

peripheral blood smear of iron deficiency can show

Answer 40

anisocytosis

Question 41

bone marrow failure , what anemia?

Answer 41

aplastic anemia

Question 42

Increased EPO Decreased Reticulocytes No hemolysis Leukopenia Thrombocytopenia

Answer 42

Aplastic Anemia

Question 43

microangiopathic hemoyltic anemia, thrombocytopenia, neuro symptoms, fever, renal dysfunction , shizstocytes

Answer 43

deficiency of ADAMS13 which cleaves large VWF factors TTP!

Question 44

onset of bleeding: immediately after trauma location: mucous membranes presentation: petechiae, prolonges menses, purpura

Answer 44

VWF disease

Question 45

onset of bleeding: minutes - hours after trauma Location of bleeding: deep tissues (joints) Presentation: large, palpable ecchymosis

Answer 45

Hemophilias

Question 46

most common hereditary cause of thrombosis

Answer 46

Factor V leiden

Question 47

Activated protein c resistance also known as

Answer 47

factor V leiden syndrome

Question 48

intense itching after shower, severe burning pain red/blue coloration , JAK2 mutation, disorder of RBC, decreased EPO

Answer 48

Polycythemia Vera