Alpha Thalassemia plus

[Bluelady-sing]

Hi

I have just been diagnosed reaching out for some support

[Gambit62 Administrator]

Bluelady-sing. Please note that although this forum has anaemia in its title PA is actually an auto-immune disorder of the gut, which leads to problems absorbing B12. One of the symptoms of B12 deficiency is a specific type of anaemia in which red blood cells are larger and rounder than normal (macrocytosis). don't think there is a forum on HU that deals specifically with anaemia.

[FlipperTD]

Hi. Retired scientist, not medic.

One thing for certain, if you've been diagnosed with a thalassaemia, then you've had it since birth as it's inherited. depending on exactly what genes you have, then it can make subtle changes to your Full Blood Count. Thalassaemia traits generally have smaller red cells [microcytosis] and reduced Mean Cell Haemoglobin [hypochromasia] which, to the unaware, can be mistaken for Iron Deficiency. Unless you are investigated and found to be iron deficient, then iron supplementation is a bad thing best avoided. Likewise, the effect of B12 or folate deficiency typically results in bigger red cells [macrocytosis] secondary to megaloblastic change in the bone marrow. The effect of megaloblastosis in thalassaemia trait on red cell size is likely to be less obvious, so it's important that you make sure whoever it advising and treating you knows and understands about your thalassaemia gene/s.

As Gambit points out, it looks like you've managed to end up in the wrong place, unless you have Pernicious Anaemia too! [which is always a possibility.]

Good luck; I hope you get the support you seek.

[Bluelady-sing]

I have been taking iron, how will I cure my anaemia should I take folic acid instead. I was very sick when transfused the h.b bearly responded. Is this a problem for marriage?

[FlipperTD in reply to Bluelady-sing]

Scientist, not medic.

This isn't something that can be answered on here as it's outside the usual area. The Thalassaemia Society is far more appropriate.

Only take iron if you're shown to be iron deficient from an iron panel, and even then, it needs to be controlled.

Only take folate supplements if you're shown to have folate deficiency. If you are iron deficient, then that's a symptom of something else which needs investigation.

Likewise, Serum B12 should be checked 'just in case'.

Good luck in your quest!

[Bluelady-sing in reply to FlipperTD]

There is no support forrum so I have no one to ask, the NHS site tells me I have 50% chance of passing on to my future children even if the other party has normal status true?

[FlipperTD in reply to Bluelady-sing]

Hi.

Scientist, not medic, but...

Yes, the NHS site is quite correct. It's simple Mendelian Genetics.

Your local branch of the Sickle Cell Society probably has a genetic counsellor who can help you. It's not an area I'm comfortable venturing into. The sneaky nature of alpha thalassaemia is that you don't know it's there unless you look for it. The other way of looking at it is that it's not a 'disease' as such, it's simply a genetic polymorphism.

If you have an anaemia that isn't resultant of a deficiency of Iron, B12 or Folate, then none of those will help. Thalassaemia traits generally show up as microcytic [small red cell] pictures, and that's 'normal' for them.

Referral to a Consultant Haematologist is probably a good start, as they have the contacts.

[Bluelady-sing in reply to FlipperTD]

Yes I might pluck up the courage to ask, for genetic counsellor via haematologist.

I have a gynae problem was in hospital H.b was 6.4, has breaththless palpitations. Post transfusion 7.8. I have always had a baseline anaemia.

I asked for the test, now having researched I had no idea how serious could be.

My father found out age 60+ prostrate cancer investigations and blood tests.

My mother does not have, but I was suspicious, the diagnosis is un surprising, part of me is pleased I know what is wrong another part has created worry.

I thought about a hematology review but my gp might not support a referral.

I fully appreciate your not a Doctor, please do not be offended by me replying to you .

One scientific question I though the abnormal haemoglobin would genetically be from mother as I am a girl. Is female mitochondria not more dominant ?

[FlipperTD in reply to Bluelady-sing]

Hi. I'm not the least offended. I only point out I'm not a doctor, and therefore can't offer medical advice.

Haemoglobin inheritance is 50/50 from each parent, so you inherit from both parents. You have a beta globin gene from each parent, and two alpha genes from each parent. [It's more complicated than that, but it's a start.] Thalassaemias occur when at least one of the globin genes is faulty or missing. The thalassaemias are a fascinating area. They vary considerably globally, and you will find that different variations on the theme are present in different areas of the World. A genetic counsellor will be able to explain things to you.

Mitochondria are something else entirely; they are inherited down the female line, because they reside in the egg cell. All our mitochondria come from our mothers.

Good luck!

[Sleepybunny]

Hi,

There is a UK charity that supports people with thalassaemia.

UKTS (United Kingdom Thalassaemia Society)

ukts.org/

NHS link about thalassaemia

nhs.uk/conditions/thalassae...