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Jason's Intersystem Block > Haemaglobinopathies > Flashcards

Haemaglobinopathies Flashcards

1
Q

disorders of haemoglobin usually inherited as?

A

autosomal recessive

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2
Q

adult haemoglobin made up of 3 things:

A

2 a chains
2 B-chains
4 iron

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3
Q

normal adult haemoglobin protein is what kind of protein?

A

heterotetramer: 2:2 a:B

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4
Q

a-chain found on which chromosome?

A

16

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5
Q

B-chains found on which chromosome?

A

11

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6
Q

where are the y-chains found? what purpose?

A
  1. found on chromosome 11 with B-chains

2. part of fetal haemoglobin

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7
Q

fetal haemoglobin tetrameter consists of? adult?

A

fetal: a2y2
adult: a2B2

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8
Q

what happens in a or B thalassaemias?

A

decreased synthesis of one or more globins = imbalance

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9
Q

structural variants of haemoglobin means what? eg.?

A

different shape, not different rate of synthesis

eg. sickle cell disease

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10
Q

what is hereditary persistance of fetal haemoglobin?

A

benign condition, more fetal haemoglobin as adult

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11
Q

what is HbE?

A

mild thalassaemia phenotype

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12
Q

in thalassaemias, what are the haemoglobin proteins structure like?

A

homotetramers = imbalance

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13
Q

how to homotetramers cause pathology?

A

insoluble in RBCs, non-functional, accumulate and damage RBCs = haemolytic anaemia

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14
Q

a-thalassaemias cause usually?

A

large deletions

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15
Q

B-thalassaemias cause usually?

A 
point mutations
-promotor
RNA splicing
nonsense
frameshift
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16
Q

what is B+ and Bo conditions:

A

B+ =some haemoglobin made

Bo = no haemoglobin whatsoever

17
Q

what do RBCs look like in B-thalassaemia homozygous?

A

microcytic

hypochromomic

18
Q

what happens to iron in B-thalassaemia

A

systemic iron overload

19
Q

consequences of bone marrow not being able to supply RBC demands?

A

marrow expansion and extramedullary erythropoiesis

20
Q

what happens to spleen in B-thalassaemia?

A

splenomegaly from filtering out the defective RBCs and the extramedullary erythropoieseis

21
Q

why are there tear-drop shaped cells in B-thalassaemia?

A

a4 aggregate inclusions on one side of cell

22
Q

what kind of cells in B-thalassaemia on slide?

A 
teardrop
microcytic
hypochromic
target cells
anisocytotic
23
Q

changes to blood parameter for heterozygous B-thalassaemia?

A

minor decreased/elevations, asymptomatic

24
Q

problem with blood transfusions in B-thalassaemia?

A

exaccerbate the iron overload, need chelation

25
Q

only known cure for B-thalassaemia?

A

bone marrow transplant

26
Q

why HRT for B-thalassaemia?

A

girls get menopause at 15 due to iron complications

27
Q

with alpha-thalassaemia, what kind of homotetramers can you get?

A

y4

B4

28
Q

how many functional genes in alpha-thalassaemia trait? two kinds?

A

2
a-/a-
aa/–

29
Q

in alpha-thalassaemia trait, what do we have to worry about for parents wanting to have children?

A

If parents both have aa/– then risk of having HbBart (–/–) is 1 in 4

30
Q

if both parents with alpha-thalassaemia trait have a-/a- then what are their children?

A

a-/a- and you get mild anaemia

31
Q

sickle cell disease point mutation where:

A

glutamate&raquo_space; valine

32
Q

how does sickle cell damage RBCs?

A

in deoxygenated/stress states, the HbS aggregate and cause sickling of RBCs, repetitive leads to irreversible sickling and adhere to endothelium

33
Q

sickle cells appear how on slide?

A

severe normocytic or macrocytic

34
Q

what kind of anaemia in sickle cell?

A

haemolytic anaemia

35
Q

how is MCV/MCH affected in heterozygous vs. homozygous sickle cell?

A

heterozygous: normal or reduced
homozygous: normal unless in crises

36
Q

what are compound heterozygotes?

A

2 kinds of mutation on the B-globin mutation, HbS or HbE?

37
Q

what are double heterozygotes?

A

B and a globin mutation. (actually do better, less imbalance)

38
Q

future therapies of thalassaemias?

A

gene therapy

Jason's Intersystem Block (19 decks)

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