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HTS > Thalassaemia > Flashcards

Thalassaemia Flashcards

1
Q

thalassaemia

A

name for a group of inherited conditions that affects a substance in the blood called haemoglobin

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2
Q

people with thalassaemia produce either…

A

no or too little haemoglobin

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3
Q

thalassaemia can be divided into…

A

alpha & beta

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4
Q

most severe type of thalassaemia

A

beta thalassaemia major

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5
Q

alpha thalassaemia

normal

A
  • all alpha globin chains present
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6
Q

alpha thalassaemia

carrier

A
  • one missing gene
  • silent carrier
  • no abnormalities
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7
Q

alpha thalassaemia

Alpha thalassaemia minor

A
  • two missing genes
  • asymptomatic
  • mild microcytic anaemia
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8
Q

alpha thalassaemia

HbH disease

A
  • three missing genes
  • symptomatic
  • mild to severe anaemia
  • splenomegaly
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9
Q

alpha thalassaemia

alpha thalassaemia major

A
  • all 4 missing genes
  • incompatible with life
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10
Q

alpha thalassaemia results from deletions involving what genes?

A

HBA1 + HBA2

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11
Q

alpha thalassaemia presentation

malformed red blood cells

A

reduce oxygen carrying
* pallor
* shortness of breath
* fatigue

body removes damaged red cells
* enlarged spleen
* low number of cells
* jaundice

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12
Q

alpha thalassaemia treatment for anaemia

A
  • folic acid + good nutrition
  • transfusions of packed red cells
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13
Q

alpha thalassaemia treatment long term

A
  • bone marrow transplant
  • splenectomy
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14
Q

alpha thalassaemia treatment
avoid passing on condition

A

genetic counselling

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15
Q

what is beta thalassaemia

A

range of inherited conditons affecting B chains in haemoglobin

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16
Q

what is beta thalassaemia caused by?

A

caused by point mutations to a single gene on chromosome 11

17
Q

beta thalassaemia inherited in an…

A

autosomal recessive fashion

18
Q

beta thalassaemia

normal

A

healthy (B/B)

19
Q

beta thalassaemia minor

A
  • B/B+
  • B/B0
  • mild anaemia
20
Q

beta thalassaemia intermedia

A
  • B+/B0
  • may need transfusions
21
Q

beta thalassaemia major

A
  • B+/B+
  • B0/B0
  • both alleles have mutation
  • severe anaemia
  • bone deformities
22
Q

why does beta thalassaemia cause bone deformities?

A
  • makes bone marrow expand
  • bones widen
  • results in abnormal bone structure ( esp face + skull )
  • also makes bones thin and brittle
  • increasing chance of broken bones

HTS (17 decks)

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