P2 GENETICS

Question 1

hemolysis is

Answer 1

Destruction of RBCs

Question 2

the type of HA thats known as extrinsic HA

Answer 2

Acquired HA

Question 3

the type of HA thats known as intrinsic HA

Answer 3

Hereditary HA

Question 4

Pathogenesis of hereditary HA ( time of destruction)

Answer 4

Destroying RBCs earlier than normal

Question 5

Pathogenesis of acquired HA ( time of destruction)

Answer 5

normal RBCs destroyed later

Question 6

Factors causing Acquired HA

Answer 6

• infections
• blood cancers
• drugs
• SLE , RA
• hypersplenism
• reaction to blood transfusion
• defective heart valves

Question 7

causes of hereditary HA

Answer 7

Abnormalities in 1 or more of the genes controlling RBC production

Question 8

mention the types of hemoglobin a normal human have

Answer 8

• HbA
• HbA2
  -HbF
  -HbA1C

Question 9

what is HbA

Answer 9

major adult Hb

Question 10

what is HbA2

Answer 10

`minor adult Hb

Question 11

Composition of HbA2

Answer 11

2 alpha 2 delta chains

Question 12

what is HbF

Answer 12

fetal Hb

Question 13

Composition of HbF

Answer 13

2 alpha 2 gamma chains

Question 14

Composition of HbA

Answer 14

2 alpha 2 beta chains

Question 15

Composition of HbA1C

Answer 15

Glucose residues attached to beta chains
2 alpha 2 beta attached with glucose

Question 16

Genes encoding HbA

Answer 16

HBA1 , HBA2 & HBB

Question 17

alpha globulin is encoded by what genes

Answer 17

HBA1 AND HBA2

Question 18

beta globulin is encoded by which genes

Answer 18

HBB

Question 19

alpha globulin genes are located on which chromosome

Answer 19

Chromosome 16

Question 20

beta globulin genes are located on which chromosome

Answer 20

Chromosome 11

Question 21

sickle cell anaemia is caused by

Answer 21

miss-sense mutation in HBB gene

Question 22

in sickle cell anaemia , the substitution is between what AAs

Answer 22

from glutamic acid to valine

Question 23

the substitution is between which nucleotides

Answer 23

from Thymine to Adenine

Question 24

chemical properties of glutamic acid

Answer 24

hydrophilic negatively charged

Question 25

chemical properties of valine

Answer 25

Hydrophobic neutral

Question 26

life span of sickle shaped RBC

Answer 26

20 days or less

Question 27

genetic predisposition of SCD

Answer 27

Autosomal recessive

Question 28

Heterozygotes with sickle cells allele are resistant to which infection

Answer 28

Malaria

Question 29

at which gestational week HbF is produced

Answer 29

6 weeks

Question 30

Genetic predisposition of thalassemia

Answer 30

Autosomal recessive

Question 31

alpha thalassemia affect what Hb

Answer 31

HBA 1 & HBA2

Question 32

levels of beta globin in alpha thalassemia

Answer 32

Accumulated

Question 33

levels of alpha globin in alpha thalassemia

Answer 33

Decreased

Question 34

cause of alpha thalassemia

Answer 34

Deletions on chromosome 16

Question 35

severity of the disease incase of 1 deleted allele in alpha thalassemia

Answer 35

silent carrier

Question 36

severity of the disease incase of 2 deleted allele in alpha thalassemia

Answer 36

alpha thalassemia minor

Question 37

severity of the disease incase of 3 deleted allele in alpha thalassemia

Answer 37

HbH disease , moderate to severe

Question 38

severity of the disease incase of 4 deleted allele in alpha thalassemia

Answer 38

most severe form , fetal death

Question 39

cause of beta thalassemia

Answer 39

point mutations on chromosome 11

Question 40

rare causes of beta thalassemia

Answer 40

Insertions / deletions

Question 41

Severity of the disease incase of 1 mutated allele in beta thalassemia

Answer 41

beta thalassemia minor

Question 42

Severity of the disease incase of 2 mutated allele in beta thalassemia

Answer 42

cooley's anemia / intermediate to severe

Question 43

hereditary sphereocytosis is due to

Answer 43

RBC membrane protein defect

Question 44

shape of RBC incase of HS

Answer 44

spherocytes

Question 45

defects in what genes causes HS

Answer 45

ANK1 EPB42 SLC4A1 SPTA1 SPTB

Question 46

Genetic predisposition of HS

Answer 46

Autosomal dominant in most cases

Question 47

mot common enzyme defect causing hemolytic anemia

Answer 47

G6PD def.

Question 48

causes of G6PD def.

Answer 48

missense mutation in G6PD gene

Question 49

Factors that precipitate G6PD def.

Answer 49

- environmental stress - viral , bacterial infections - favism - sulfa drugs , antimalaria drugs

Question 50

genetic predisposition in G6PD def.

Answer 50

X linked recessive

Question 51

Gender at risk for G6PD def.

Answer 51

males

Question 52

cases a female can be affected with an X linked recessive disease

Answer 52

- affected father & carrier mother - female with turner syndrome - incase of skewed X-inactivation