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