Heme disorders

Question 1

Sideroblastic anemia can be from what? (its basically difficult to make RBCs)

Answer 1

Genetic Defect in heme making

Acquired:
Alcohol Abuse
Isonizide

Question 2

Lab for sideroblsatic anemia?

Answer 2

Microcytic
RDW is high

Ringed sideroblast in bone marrow (you just see small microcytic in periphery)

Sideroblasts are normal, but when they are ringed it is abnormal

Question 3

Tx sideroblastic anemia?

Answer 3

Vitamin B6 (pyridoxime) 
Treat underlying cause

Question 4

Alpha thalaseemia

Answer 4

Defect in alpha globin (you have 4 alleles for it)

African and asian

Question 5

Beta thalasemia

Answer 5

Seen in mediterranean

Question 6

Alpha thalassemia minima?

Answer 6

1 mutated allele. Minimal disease and asymptomatic

Question 7

Alpha thal minor?

Answer 7

2 mutated alleles, Mild microcytic anemia

Question 8

HbH disease?

Answer 8

3 mutated alpha alleles, so you have all beta global

HEMOGLOBIN H: Shift to left and binds to oxygen too tight

chronic hemolysis

Question 9

Hemoglobin Bart’s?

Answer 9

Baby can only make gaba global

Incompatible with life. HYDROPS fettles b/c can’t let go of oxygen

Question 10

Beta globin has 2 alleles

Beta thal minor?

Answer 10

Decreased Beta global

Increased HbA2 which is alpha globin and delta globin

Question 11

Beta thal minor is what?

Answer 11

NO Beta

Have HbA2
HbF (fetal

Question 12

Smear seen with thalllasemia?

Answer 12

TARGET CELLS

Question 13

Iron overload happens b/c lots of transfusion with thallesemia. Tx for that?

Answer 13

chelate iron

Deferoxamine

Question 14

Dx of thalllasemia?

Answer 14

Do iron studies first

Then hemoglobin electrophoresis

Question 15

What does hydroxyurea do?

Answer 15

More hemoglobin F in sickle cell (no need for beta globin)

Question 16

Kid with sickle cell gets what?

Answer 16

Vaccines to encapsulated (SHiN)

Prophylaxis with penicillin until age 5 for pneumococcal

Question 17

complication in 10% of sideroblastic anemia?

Answer 17

Acute leukemia