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Haematology > alpha Thalassaemia > Flashcards

alpha Thalassaemia Flashcards

1
Q

Symptoms of a-thalassaemia

A

extreme tiredness, pale, short breath, fast heart rate, jaundice, slow growth, misshapen skull bones

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2
Q

Causes of a-thalassaemia

A

Mutations on chromosomes 16
Often deletion

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3
Q

Silent Carrier a+ Heterozygote

A

One globin gene is deleted
No haematological abnormality
Carrier and without anaemia

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4
Q

a Thalassaemia trait a+ or a0

A

Two deletions (aa/— or a-/a-)
Clinically indistinguishable
DNA analysis will differentiate

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5
Q

alpha thalassaemia trait haematologically

A

Similar to IDA
Microcytic, hypochromic anaemia
MCH lower in 0 than +

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6
Q

Haemoglobin H Disease symptoms

A

(—/a-) or intermedia
Hb ~ 80g/l
Skeleton changes
Gallstones
Iron overload
Growth retardation
Hepatosplenomegaly

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7
Q

Haemoglobin H Disease Haemalogically

A

Microcytic, hypochromic haemolytic anaemia
Poikilocytosis
Target cells
Polychromasia
Hb H inclusion bodies

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8
Q

Haemoglobin Bart’s Hydrops Foetalis

A

(—/—)
Incompatible with life

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