Anemia2

Question 1

ANEMIA OF ABNORMAL NUCLEAR DEVELOPMENT 5

Answer 1

CONGENITAL DYSERYTHROPOIETIC ANEMIAS
MEGALOBLASTIC ANEMIAS
PERNICIOUS ANEMIA
FOLATE DEFICIENCY ANEMIA
CONGENITAL DYSERYTHROPOIETIC ANEMIAS

Question 2

ANEMIA OF ABNORMAL IRON METABOLISM

Answer 2

IRON DEFICIENCY ANEMIA

Question 3

ANEMIA OF CHRONIC DISEASES

Answer 3

SIDEROBLASTIC ANEMIAS

LEAD INTOXICATION

Question 4

are a group of disorders in which cell maturation in the bone marrow is abnormal as a result of abnormal development of the nuclei.

Answer 4

anemias of abnormal nuclear development

Question 5

MEGALOBLASTIC ANEMIA

Less common causes include:

Answer 5

Defects of DNA synthesis

Drug induced disorders of DNA synthesis

Question 6

anemias of abnormal nuclear development are characteristically classified as 4

Answer 6

MACROCYTIC, NORMO to HYPERCHROMIC,
abnormal leukocytes (hypersegmented neutrophils),
erythrocytes (macrovalocytes), and
platelets (giant platelets)

Question 7

abnormalities in erythrocytic cell precursors but are INHERITED and NOT ASSOCIATED with leukocyte and platelet disorders.

Answer 7

CONGENITAL DYSERYTHROPOIETIC ANEMIAS

Question 8

Have a corrin ring (a ring composed of 4 pyrrole rings similar to hemoglobin) that contains cobalt

Answer 8

VITAMIN B12 CYANOCOBALAMIN

Question 9

Coenzyme forms of B12
– represents 75% of cobalamin in the plasma
– represents 75% of cobalamin in the liver , rbcs, and the kidneys

Answer 9

Adenosylcobalamin

Methylcobalamin

Question 10

Represents a family of compounds derived from folic acid (pteroylglutamic acid)

Answer 10

FOLATE

Question 11

Participates in carbon transfers and is required in three reactions that lead to DNA synthesis : 2 for purine and 1 for pyrimidine synthesis

Answer 11

FOLATE

Question 12

Folate is necessary for efficient _ synthesis and production of _.

Answer 12

thymidilate

DNA

Question 13

is the most important transcobalamin is a b-globulin synthesized in the liver and transports B12 to the liver, tissues and some in the bone marrow; it is needed in the transport of B12 across membranes

Answer 13

TC II

Question 14

are present in gastric fluid, plasma, amniotic fluid, milk, saliva, and granulocytes; called R (rapid) proteins or R-binders , since they migrate faster than intrinsic factor on zone electrophoresis

Answer 14

TC I and III

Question 15

binds most of the B12 in plasma and this is not transported in the marrow; believed to be secreted by granulocytes

Answer 15

TCI

Question 16

Deficiency in TC II causes _; TC I and III deficiencies are apparently harmless

Answer 16

megaloblastic anemias

Question 17

Derived from green leafy vegetables, liver, kidney, and whole grain cereals, , yeast, and fruits(especially oranges)

Answer 17

FOLIC ACID

Question 18

Folate uptake in rbcs require _ as a cofactor!

Answer 18

Vit B12

Question 19

_ and _ are integral components in DNA synthesis

Answer 19

Vitamin B12 and Folate

Question 20

MEGALOBLASTIC ANEMIAS

PATHOPHYSIOLOGY:

Answer 20

Vitamin B12 deficiency

“mehylfolate trap” hypothesis

Question 21

When B12 is deficient, _ cannot be converted to methionine and folate

Answer 21

homocysteine

Question 22

. THE __ PROVIDES A SENSITIVE TEST FOR B12 DEFICIENCY THAT IS NOT AFFECTED BY FOLIC ACID DEFICIENCY.

Answer 22

methylmalonic acid MMA LEVEL

Question 23

MEGALOBLASTIC ANEMIA PERIPHERAL BLOOD FINDINGS

```
anemia
MCV
MCH
MCHC
WBC
+
RDW
~~~

Answer 23

Mild to moderate anemia
MCV increased
MCH is increased
MCHC is normal
WBC count is normal but declines
(+) Macroovalocytesn with little or no central pallor
Anisocytosis common [increased random distribution width (RDW)]

Question 24

is associated with Vitamin B12 deficiency that results from an acquired atrophy of the stomach lining

Answer 24

Pernicious anemia or PA

Question 25

Vitamin B12 deficiency is associated with _; Folate deficiencies DO NOT exhibit these findings.

Answer 25

NEUROLOGIC DEFICIENCIES

Question 26

OTHER CAUSES OF ACQUIRED VITAMIN B12 DEFICIENCY 7

Answer 26

- Dietary deficiency - Castle’s Intrinsic Factor Deficiency - Intrinsic Factor Molecular Defect - Small Bowel Bacterial Overgrowth - Fish Tapeworm disease (Diphyllobothriasis) - Ileal Disease - Drugs ( neomycin and ethanol)

Question 27

A rare hereditary disorder that causes B12 malabsorption Affects homozygous children in the first 2 years of life Autosomal recessive inheritance Vitamin cannot be absorbed with or without IF Gastric secretion is normal

Answer 27

HEREDITARY VITAMIN B12 DEFICIENCY | IMMERSLUND SYNDROME

Question 28

Usually same with Vit B12 deficiency No neurologic findings Other causes: ``` Dietary deficiency Alcoholic cirrhosis Pregnancy Infant malnutrition Folate antagonists ``` (pyrimethamine [antimalarial] and methotrexate [chemotherapeutic drug])

Answer 28

FOLATE DEFICIENCY ANEMIA

Question 29

affects the ENTIRE small intestine and causes both B12 and folate deficiency; appears to be caused by infectious agents and responds to folate therapy and antibiotics

Answer 29

TROPICAL SPRUE

Question 30

Usually affects the PROXIMAL small intestine Two forms: – seen in childhood – seen in adults

Answer 30

GLUTEN SENSITIVE ENTEROPATHY– Celiac Disease Non-tropical Sprue

Question 31

– a rare hereditary autosomal recessive disorder of pyrimidine metabolism resulting in abnormal DNA synthesis, excessive urinary excretion of orotic acid, and megaloblastic anemia

Answer 31

OROTIC ACIDURIA

Question 32

– Is a rare X-linked disorder of purine metabolism caused by the lack of the enzyme xanthine-guanine phosphoribosyl transferase.

Answer 32

LESCH-NYHAN SYNDROME

Question 33

Characterized by refractory anemia that varies in severity, and abnormalities in rbc bone marrow precursors, including nuclear abnormalities, multinuclearity and other bizarre changes WBC AND Platelets ARE NOT AFFECTED

Answer 33

CONGENITAL DYSERYTHROPOIETIC ANEMIAS

Question 34

Causes neonatal jaundice but patients have a normal lifespan; Bone marrow shows binucleated cells; Autosomal recessive

Answer 34

Type I CDA

Question 35

– Referred to as hereditary erythroblast multinuclearity; Most common of the three; positive HEMPAS antigen which makes these cells resistant to the sugar water test to screen PNH; Autosomal recessive

Answer 35

Type II CDA

Question 36

– characterized by pronounced multinuclearity (up to 12 nuclei per cell) – called gigantoblasts; Autosomal dominant

Answer 36

Type III cda

Question 37

___ are negative to acidified serum test; only _ is positive to this test!

Answer 37

CDA Type I and III | Type II

Question 38

ANEMIA OF ABNORMAL IRON METABOLISM Three general etiologic mechanisms appear to be involved: Deficiency in raw material Defective release in of stored iron from macrophages Defective utilization of iron within the erythroblasts

Answer 38

(iron deficiency anemia) (anemia of chronic disorders) (sideroblastic anemia and anemia of lead intoxication)

Question 39

– reflects the body tissue iron stores and thus a good indicator of iron storage status; first laboratory test to become abnormal; decreased ONLY IN IRON DEFICIENCY ANEMIA Reference range: Men:_ Women:_

Answer 39

SERUM FERRITIN 15-200ug/L 12-150ug/L

Question 40

CHEMICAL LABORATORY TESTS USEFUL IN DIFFERENTIATING DISORDERS OF IRON DEFICIENCY

Answer 40

- -FREE ERYTHROCYTE PROTOPORPHYRIN - -TOTAL IRON BINDING CAPACITY (TIBC) - -TRANSFERRIN SATURATION - -SERUM IRON

Question 41

PICA

Answer 41

IRON DEFICIENCY ANEMIA

Question 42

IRON DEFICIENCY ANEMIA 6 | cracks in the corners of the mouth (soreness of the tongue) (flattening and spooning of the nails)

Answer 42

Physical Findings: ``` Angular stomatitis Glossitis Gastritis Koilonychia Splenomegaly – rare Neuropathies – not present ```

Question 43

Decreased Hgb, Hct and RBC] Decreased Indices Microcytic, hypochromic Elevated RDW Variable platelet count WBC and Reticulocyte count normal

Answer 43

IRON DEFICIENCY ANEMIA | (+) marrow sideroblasts

Question 44

Are a diverse group identified by a common feature of abnormal iron kinetics that produces excess accumulation of iron, which is deposited in the mitochondria of normoblasts

Answer 44

SIDEROBLASTIC ANEMIAS

Question 45

Three types of Sideroblasts: Type I – iron in the form of ferritin aggregates and at least _aggregates can be identified in approximately 50% of normoblasts Type II – contains _ aggregates Type III – __; shows larger granules situated in a ring or collar around the nucleus of a normoblast; are representatives of iron-laden mitochondria

Answer 45

4 6 pathologic ringed sideroblast

Question 46

For a diagnosis of Sideroblastic anemia, at least _ of normoblasts must be __ ringed sideroblasts.

Answer 46

15% | Type III

Question 47

CLASSIFICATION AND CAUSES OF SIDEROBLASTIC ANEMIA HEREDITARY (rare) ACQUIRED (common) Primary (idiopathic) Secondary

Answer 47

HEREDITARY (rare) --ALA synthase deficiency ``` ACQUIRED (common) Primary (idiopathic) --Acute myeloid leukemia --Myelodysplastic syndromes --Myeloma ``` - -Alcoholism - -Lead poisoning - -Chloramphenicol - - Drugs used in the treatment of tuberculosis

Question 48

Lead poisoning causes increased levels of _ and normal _ _. | THIS CONFORMATION DISTINGUISH LEAD POISONING FROM ACUTE INTERMITTENT PORPHYRIA in which BOTH d-ALA and PBG are elevated.

Answer 48

d-ALA | porphobilinogen levels

Question 49

Injury to red cell membrane, possibly by inhibiting ATPase | Defects in a and b globin chain synthesis

Answer 49

LEAD INTOXICATION

Question 50

LEAD INTOX Free erythrocyte protoporphyrin is _ in erythrocytes to A MUCH GREATER EXTENT than in iron deficiency. Urinary ALA is _ and PBG is __. Urinary coproporphyrins are also __

Answer 50

increased elevated normal increased