Sideroblastic Anemia

Question 1

What is the most common congenital cause of SA? What enzyme defect is present?

Answer 1

X linked SA (XLSA) which is due to a def of ALAS2 enzyme which is required for the first step in heme synthesis.

Question 2

What will be the laboratory signs of XLSA?

Answer 2

They will have mild anemia with varying macrocytosis or microcytosis and signs of hemolysis and varying degree of iron overload

Question 3

What is the MCV difference between males and females in XLSA?

Answer 3

Males will be microcytic while with females they will be normocytic or macrocytic.

Question 4

What is the treatment of choice in XLSA? What tx is contraindicated?

Answer 4

Pyridoxine 50-100mg/day and low doses chronically. Splenectomy is contraindicated (very bad outcomes).

Question 5

What mutation is assoc with MDS-RS-SLD and MDS-RS-MLD?

Answer 5

SF3B1

Question 6

What is the treatment for MDS-SA-SLD? for the anemia findings

Answer 6

GCSF with EPO

Question 7

What are the basic presenting findings with copper def?

Answer 7

Variable MCV, anemia, +/- neutropenia, hypocellular marrow, vaculolated inclusions in erythroid/myeloid precursors, dysplasia, ringed sideroblasts.

Question 8

What neurological symptoms can be seen in copper def?

Answer 8

ataxia, myelopathy, sensory neuropathy.

Question 9

What are some drugs that can cause acquired SA?

Answer 9

INH, chloramphenicol, linezolid

Question 10

Besides medications what are some other causes of acquired SA?

Answer 10

Alcohol, copper def, and hypothermia.