14 dx

Question 1

sickle cell anemia

Answer 1

• Based on clinical s/s and laboratory testing of Hb.
• Metabisulfite screen is (+) in both disease and trait.
• Electrophoresis.
• Prenatal amniocentesis or chorionic biopsy.

Question 2

Bthalassemia minor

Answer 2

o Must confirm diagnosis to rule out iron deficient anemia.

o Need to dx to know if need to do genetic counseling

Question 3

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Answer 3

Flow cytometry detection of RBCs deficient in GPI linked proteins (CD59)

Question 4

pernicious anemia

Answer 4

• Moderate-severe megaloblastic anemia.
• Leukopenia with hypersegmented granulocytes.
• Decreased serum B12.
• Increased homocysteine and methylmalonic acid.
• Abs detection
• Hct should rise ∼ 5 days after administration of B12 with increased reticulocytes (pts may be empirically treated)

Question 5

folate deficiency

Answer 5

• diagnosis of folate deficiency can be made only by demonstration of decreased folate levels in the serum or red cells
• Rule out B12 deficiency before treating with folate as folate may exacerbate neuro defects of B12 deficiency

Question 6

iron deficincy anemia

Answer 6

• Decreased Hb and Hct.
• Microcytic, hypochromic anemia.
• Poikilocytosis (abnormal RBC shape).
• Decreased serum iron and ferritin.
• Increased iron binding capacity.
• Decreased transferrin % < 15.
• Inhibition of hepcidin synthesis.

Question 7

Chronic Immune Thrombocytopenic Purpura (ITP)

Answer 7

Diagnosis of exclusion (no reliable Ab tests).