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UNIT 6 HEMATOLOGY > P2 GENETICS > Flashcards

P2 GENETICS Flashcards

1
Q

hemolysis is

A

Destruction of RBCs

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2
Q

the type of HA thats known as extrinsic HA

A

Acquired HA

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3
Q

the type of HA thats known as intrinsic HA

A

Hereditary HA

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4
Q

Pathogenesis of hereditary HA ( time of destruction)

A

Destroying RBCs earlier than normal

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5
Q

Pathogenesis of acquired HA ( time of destruction)

A

normal RBCs destroyed later

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6
Q

Factors causing Acquired HA

A
  • infections
  • blood cancers
  • drugs
  • SLE , RA
  • hypersplenism
  • reaction to blood transfusion
  • defective heart valves
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7
Q

causes of hereditary HA

A

Abnormalities in 1 or more of the genes controlling RBC production

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8
Q

mention the types of hemoglobin a normal human have

A
  • HbA
  • HbA2
    -HbF
    -HbA1C
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9
Q

what is HbA

A

major adult Hb

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10
Q

what is HbA2

A

`minor adult Hb

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11
Q

Composition of HbA2

A

2 alpha 2 delta chains

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12
Q

what is HbF

A

fetal Hb

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13
Q

Composition of HbF

A

2 alpha 2 gamma chains

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14
Q

Composition of HbA

A

2 alpha 2 beta chains

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15
Q

Composition of HbA1C

A

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

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16
Q

Genes encoding HbA

A

HBA1 , HBA2 & HBB

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17
Q

alpha globulin is encoded by what genes

A

HBA1 AND HBA2

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18
Q

beta globulin is encoded by which genes

A

HBB

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19
Q

alpha globulin genes are located on which chromosome

A

Chromosome 16

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20
Q

beta globulin genes are located on which chromosome

A

Chromosome 11

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21
Q

sickle cell anaemia is caused by

A

miss-sense mutation in HBB gene

22
Q

in sickle cell anaemia , the substitution is between what AAs

A

from glutamic acid to valine

23
Q

the substitution is between which nucleotides

A

from Thymine to Adenine

24
Q

chemical properties of glutamic acid

A

hydrophilic negatively charged

25
Q

chemical properties of valine

A

Hydrophobic neutral

26
Q

life span of sickle shaped RBC

A

20 days or less

27
Q

genetic predisposition of SCD

A

Autosomal recessive

28
Q

Heterozygotes with sickle cells allele are resistant to which infection

29
Q

at which gestational week HbF is produced

30
Q

Genetic predisposition of thalassemia

A

Autosomal recessive

31
Q

alpha thalassemia affect what Hb

A

HBA 1 & HBA2

32
Q

levels of beta globin in alpha thalassemia

A

Accumulated

33
Q

levels of alpha globin in alpha thalassemia

34
Q

cause of alpha thalassemia

A

Deletions on chromosome 16

35
Q

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

A

silent carrier

36
Q

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

A

alpha thalassemia minor

37
Q

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

A

HbH disease , moderate to severe

38
Q

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

A

most severe form , fetal death

39
Q

cause of beta thalassemia

A

point mutations on chromosome 11

40
Q

rare causes of beta thalassemia

A

Insertions / deletions

41
Q

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

A

beta thalassemia minor

42
Q

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

A

cooley’s anemia / intermediate to severe

43
Q

hereditary sphereocytosis is due to

A

RBC membrane protein defect

44
Q

shape of RBC incase of HS

A

spherocytes

45
Q

defects in what genes causes HS

A

ANK1
EPB42
SLC4A1
SPTA1
SPTB

46
Q

Genetic predisposition of HS

A

Autosomal dominant in most cases

47
Q

mot common enzyme defect causing hemolytic anemia

48
Q

causes of G6PD def.

A

missense mutation in G6PD gene

49
Q

Factors that precipitate G6PD def.

A
  • environmental stress
  • viral , bacterial infections
  • favism
  • sulfa drugs , antimalaria drugs
50
Q

genetic predisposition in G6PD def.

A

X linked recessive

51
Q

Gender at risk for G6PD def.

52
Q

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

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

UNIT 6 HEMATOLOGY (33 decks)

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