A
If Dad has hereditary hemochromatosis (HH), whether and when to screen the baby depends on the genetics.
First: What type of HH?
Most common is Hereditary Hemochromatosis, usually caused by mutations in the HFE gene (commonly C282Y).
HH is autosomal recessive, meaning:
A child must inherit two mutated copies (one from each parent) to be at risk of developing iron overload.
What to do for your baby
1️⃣ Test the mother first (most important step)
If mom does NOT carry an HFE mutation → baby will only be a carrier → no childhood screening needed.
If mom IS a carrier → baby has a chance of inheriting two copies → genetic counseling recommended.
2️⃣ When to screen the baby?
For typical HFE-related HH:
Routine iron blood tests are NOT recommended in infancy or childhood.
Iron overload from HFE HH almost never causes problems before adulthood.
Most guidelines recommend waiting until age 18 (or adulthood) before testing, unless symptoms appear.
Why?
Iron builds up slowly over decades.
⚠️ Exception: Rare juvenile form
There is a rare severe type called Juvenile Hemochromatosis.
Causes symptoms in teens.
Very uncommon.
Usually involves a strong family history of early severe disease.
If dad developed symptoms only in adulthood, this rare form is unlikely.
Practical Summary
| Situation | What To Do |
|---|---|
| Mom not a carrier | No baby screening needed |
| Mom carrier | Consider genetic counseling |
| Concerned parent | Discuss with pediatrician |
| Routine testing age | Usually adulthood (18+) |
If you'd like, tell me:
At what age was dad diagnosed?
Does mom know her carrier status?
Is this a newborn or older child?
I can give you a more precise plan based on that.
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