hereditary anemia part 1

Question 1

what are the classifications of hereditary hemolytic anemia?

Answer 1

membrane defects
metabolism defects
haemoglobinopathies

Question 2

what are some cell membrane defect diseases?

Answer 2

hereditary spherocytosis and elliptocytosis

Question 3

what is the defect in spherocytosis?

Answer 3

the red blood cells become spherical in shape instead of biconcave so there a decreased surface area , they are unable to pass through the splenic circulation

Question 4

what is the mode of inheritance of spherocytosis ?

Answer 4

autosomal dominant

Question 5

what are the clinical features of hereditary spherocytosis

Answer 5

anemia present at any age 
jaundice is marked if associated with gilberts disease 
splenomegaly
pigment gall stones
aplastic crisis

Question 6

what is the aplastic crisis in spherocytosis usually precipitated by ?

Answer 6

parvo virus

Question 7

how do we diagnose spherocytosis ?

Answer 7

after full history taking and examination 
presence of anemia 
blood film showing microspherocytes
increased reticulocytes 
increased osmotic fragility 
negative Coombs test

Question 8

what is coomb test used for ?

Answer 8

to exclude or show any autoimmune haemolysis

Question 9

what is the principle form of treatment in spherocytosis ?

Answer 9

splenectomy

Question 10

what are the results after the splenectomy in hereditary spherocytosis ?

Answer 10

anemia improves but micro-spherocytes still form in RE system

Question 11

hereditary elliptocytosis

Answer 11

similar clinical and lab features as hereditary spherocytosis and is usually discovered by chance

Question 12

what are some defects in red cell metabolism

Answer 12

G6Pd deficiency

pyruvate kinase deficiency

Question 13

what are the most common genetic variants of enzyme G6PD

Answer 13

type A (African ) , type B ( western)

Question 14

what is the mode of inheritance of G6PD ?

Answer 14

sex-linked inheritance (X-linked recessive manner)

Question 15

what does G6PD protect against ?

Answer 15

has protective measures against malaria

Question 16

what are the clinical features of G6PD deficiency ?

Answer 16

acute hemolytic anemia

neonatal jaundice

Question 17

acute hemolytic anemia in G6PD is caused by

Answer 17

intravascular hemolysis

Question 18

what agents can cause hemolytic anemia in G6PD ?

Answer 18

infections and acute illnesses
Anti malarial drugs, antibacterial agents, analgesics
fava beans

Question 19

how do we diagnose G6PD?

Answer 19

full history and examination
blood count is normal between crisis
during crisis blood film may show contracted cells , heinz bodies
direct enzyme assay

Question 20

why may direct enzyme assay give false highs during attack in G6PD ?

Answer 20

assay will show low levels in G6PD when all red cells are of normal age distribution

Question 21

how do we treat G6PD ?

Answer 21

removal of the offensive/causative agent
maintain a high urine output
blood transfusion may be required in severe anemia
if there is severe neonatal jaundice then phototherapy and exchange transfusion may be required

Question 22

what is the mode of inheritance in pyruvate deficiency

Answer 22

autosomal recessive

Question 23

what is the function of pyruvate kinase

Answer 23

production of ATP from glucose

Question 24

what are the clinical findings in pyruvate deficiency ?

Answer 24

frontal bossing
jaundice is usual
gallstones are frequent

Question 25

what does the blood ffilm in pyruvate deficiency show ?

Answer 25

poikilocytosis

Question 26

what is the treatment for pyruvate deficiency ?

Answer 26

splenectomy

Question 27

how to diagnose pyruvate kinase deficiency ?

Answer 27

direct enzyme assay

Question 28

what is gilberts syndrome

Answer 28

is a common, harmless liver condition in which the liver doesn’t properly process bilirubin

Question 29

what is the type of haemolysis in hereditary spherocytosis ?

Answer 29

extravascular haemolysis