Haemoglobinopathies in the Neonate Flashcards
Where are embryonic haemoglobins produced in fetal life?
The erythroblasts of the human yolk sac, till 12 wks then in the liver
Which are the fetal Hbs?
Hb Gower1
Hb Gower2
Hb Portland
HbF and adult Hb is also produced after 4 weeks
Why is gower known as a transient Hb?
The epsilon chains are completely transient and switched off after 6 weeks
When do Beta thals present and why?
They present after birth usually around 3-6 months as they aren’t properly switched on till this point
detection at birth must be done with screening
When do alpha thals present?
At birth is usually evident
What are the types of alpha thalassemia?
SEA - spare zeta
MED - spare zeta
FIL
THAI
What happens in zeta spared alpha thal?
the child is born prematurely without any apha because portland keeps them alive
What are the clinical features of hydrops fetalis?
Severe haemolytic anaemia hepatosplenomegaly cardiac failure and oedema pulmonary hypoplasia genital abnormalities limb abnormalities
What can be seen on a blood film for HbBarts babies?
Polychromasia - increased reticulocytes
Target cells
Increased erythroblasts
How should alpha thal major be managed?
Identify high risk pregnancies in first trimester
Then serial ultrasound and dopplers to identify fetal anaemia
Intra-uterine transfusion if continuing pregnancy
Risk management of mother - severe Hypertension
How does beta thal major present in a baby?
Failure to thrive at 3-9months
This is due to protection by HbF
What is seen on a blood film of a beta thal major baby?
Hypochromia and microcytic anaemia after 3-6months
Is sickle cell disease observed at birth?
No
Only seen if there is screening at birth
What is the blood film of sickle cell baby like?
Normal usually may have some subtle abnormalities
There are target cells in HbSC
