lecture 14: sideroblastic anemia

Question 1

siderblastic anemias are a —-and dianosed by —

Answer 1

heteroeneous roup of disorders caracterized by anemia of varyin
severity /ring siderbplasts in te BM aspirate

Question 2

The sideroblastic anemias have —–/ but have in common an ———, as a result of —— due to te 2 —-

Answer 2

diverse etiologies/impaired biosynthesis of heme in the erytroid cells of te BM/ eiter impaired production of protoporporyn or defective insertion of protoporpopryn into iron in te erytroid cell / two major enzyme defiencies involved in the emoglobin syntehtic pathway namely Heme synthetase ((ferrochelatase).) or δ
aminolevulinic acid synthase

Question 3

Iron delivery to the —–is not down regulated in the face of the —–, and iron continues to be transported normally to the ——. ,but since it cannot be incoporrated into the heme, /

Answer 3

to te erytroid cells/ impaired heme synthesis/ normally to te mitochondria/ it accumulates there in a ring form around te nucles

Question 4

picturees paes 1 and 2

Question 5

Non-heme iron accumulates in RBC mitochondria surrounding the nucleus instead of
cytoplasmic ferritin. A ring of iron is seen as opposed to the normal situation where only a few
———

Answer 5

(<4) small aggregates of iron (ferritin) are present.

Question 6

These iron deposits are identified using the —-and the resulting abnormal
cells are identified as —-. For a diagnosis of sideroblastic anemia, at least —–

Answer 6

perl’s prussian blue stain/ rin siderblasts/15% of
the normoblasts must be ring sideroblasts.

Question 7

Although the various types of sideroblastic anemia have the common feature of ring sideroblasts
in the bone marrow, ——-

Answer 7

they appear to have different etiologies

Question 8

sdierblastic anemias are typically classfied as – or –. acquired sideroblastic anemias are further classified as —

Answer 8

acquired or hereditary/idiopathic (RARS) or secondary to drugs or toxins

Question 9

graph page 3

Question 10

herediatry siderblastic anemia is — and is —

Answer 10

uncommon and is clinically and genetically heterogenous

Question 11

pathopysioloy of ereditary sideroblastic anemia:

Answer 11

patients ave decreased -aminolevulinic acid
synthase (ALA-S) activity: tis enzyme bein the first enzyme in the porphoryn and heme synthesis pathway and catalyzin gthe condesnation of GLYCINE AND SUCCYNIL COA

Question 12

clinical presenttaion and pysical findings

Answer 12

ereditary sideroblastic anemia is manifested during infancy. pateints typically dispaly sins and symptoms of anemia/in addition, patients may also ave
manifestations of iron overload

Question 13

LAB FINDINS:

Answer 13

1)periperal blood: