Thalassaemia Flashcards

1
Q

What is thalassaemia?

A

Genetic unbalanced Hb synthesis with underproduction or no production of one globin chain

This causes damage to RBC membranes causing haemolysis

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2
Q

What is beta thalassaemia major?

A

Absece of beta chains

Chromosome 11

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3
Q

How does beta thalassaemia major present?

A
Presents in 1st year
Severe anaemia (microcytic)
Failure to thrive
Extra medullary haematopoiesis causes characteristic head shape - skull bossing
Hepatosplenomegaly 

HbA2 and HbF raised
HbA absent

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4
Q

What is management of beta thalassaemia major

A

Life long blood transfusions required
This results in iron overload/deposition seen after 10 years as endocrine failure (pituitary, thyroid, pancreas -> DM)

Aim for Hb > 90 to suppress ineffective extramedullary haematopoiesis

Splenectomy if hypersplenism persists with increasing transfusion requirements
(avoid til >5 years due to infection risk

Hormone replaceemnt for endocrine complications

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5
Q

What does iron overload cause? How is it treated?

A

Hypothyroidism
Hypocalcaemia
Hypogonadism

Desferroxamine SC infusion twice weekly
(Iron chelator)

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6
Q

What is beta thalassaemia trait?

A

Reduced beta chain production Carrier state

Usually asymptomatic

Mild hypochromic, microcytic anaemia
HbA2 raised

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7
Q

What is prevention of beta thalassaemia?

A

Genetic counseeling

Antenatal diagnosis using fetal blood or DNA

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8
Q

What Ix?

A
FBC
MCV
Film
Iron
HbA2
HbF
Hb electrophoresis
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9
Q

What is alpha thalassamia? Features of haemolysis?

A

Mainly caused by genetic deletions for allpha genes on chromosome 16

Bart’s hydrops - all four alpha genes deleted - in utero death

HbH if 3 alpha genes deleted
Anaemia and features of haemoalysis:
Hepatosplenomegaly
Leg ulcers
Jaundice
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10
Q

What is seen on blood film in alpha thalassaemia?

A

Microcytic cells
Target cells
Howell Jolly body

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