Hola a todos
Después de que mi médico me lo mencionara por primera vez en mayo, acabo de tener mi primera V y recibí los resultados genéticos. Tengo hemocromatosis compuesta heterocigota. ¿Alguien puede decirme más sobre esto, por favor, y quién en mi familia puede estar en riesgo, ya que la enfermera no pareció poder decirme mucho más que solo proviene de un lado de mi familia.
La primera V no salió bien. Casi me desmayé. Tardó una hora y media antes de que ella estuviera lo suficientemente satisfecha con mi presión arterial para dejarme ir y media hora para que mi brazo dejara de sangrar. Espero que no pase cada vez. Otra en dos semanas, no veré al médico en otros dos meses.
Laura.
My doctor ordered an IV of saline before they draw my blood and that makes a huge difference. I too passed out and blood pressure went down by not when they give me saline
Yo también casi me desmayo. Me empezaron a dar suero salino después de la flebotomía. Lo hacía una vez por semana y ese día me sentía enfermo y muy agotado durante 3-4 días. El suero salino ayuda mucho.
Hi Laura welcome to the Forum, To answer your question about other family members let me explain. Your Parents need to be checked first.
This is to determin which Parent (Sometimes Both) has the Faulty Gene.
In my case, it was my Dad, But he is only a Carrier, which means his Iron levels remain normal and he has no symptoms.
So in my case any brothers or sisters had to be tested. I had 2 brothers, 1 tested positive and 1 negative. My Dad has an older brother with 2 sons, So i contacted them and 1 was Positive and 1 Negative.
Now i was Diagnosed at 40yrs, and i have 2 sons of my own. but my doctor has told me my sons dont need Tested until 18yrs old. Oh my Wife was also Tested to rule out a Rareity that 2 people meet / get married / and discover both have HH. Its not impossible so tell your Hubbie to get Tested. I think if both Parents are HH then every child born to them will have HH.
Regarding the Saline IV, I never experienced any side effects while having my blood removed, so cant comment but sorry to hear a few experiencing passing out etc. Everyone with this HH has a different story to tell, so your in the right place to get well educated.
So Far i have had over 20 pints removed but struggling with Chronic Fatigue and Depression etc etc. However i am very grateful to have had an early diagnosis before any major organ damage so i hope you all are as fortunate. Good-Luck and God bless us all xxx
My parents are no longer living, had my sons tested and they both have one gene. My brothers are being tested now. How will I ever know which family it came from
Hi Mary, Sorry to hear your parents are no longer living, i hope you are ok, I would say if your Parents have any living blood relatives, ie, brothers or sisters, or perhaps their son`s or daughters then you could still find out which side of the family it came from.
I immediatley thought it was my mothers side as she has lots of on-going issues as does at least 3 maybe 4 of her sisters. Also my gran was Irish so i thought it was mum`s side. To my total amazement my mum tested Negative and my Dad was Positive, He is the Fittest one from us all, and after a bit of investigating Family Tree`s etc. It turns out their is Irish Desendents on my Dad`s side also.
If you are compound heterozygous, which means C282Y/H63D, the nurse gave you incorrect information.
It means you got the C282Y from one parent and the H63D from the other. So that means both of your parents were carriers at least.
My son is compound heterozygous C282Y/H63D, I am homozygous C282Y and his father is homozygous H63D, so our son (we only got the chance of one child) could not miss out. If we had more, they would all be C282Y/H63D.
If your parents were only carriers, i.e. heterozygous, then there are more chance of their children being only heterozygous or none at all. If at least one of your parents were homozygous, then all their children would at least be heterozygous, or compound like you.
Hola, disculpa por la tardanza en responder y gracias por tus respuestas. He estado investigando y encontré esto, lo he pegado a continuación. Me cuesta creer que el compuesto sea una forma más leve, ya que mis síntomas, que he comentado previamente en el foro, y que solo tengo 36 años. Sé que es diferente para cada persona. Además, por curiosidad, mi médico me dijo que ignorara el TS% ya que la prueba no es fiable. ¡El mío está en el 80%! Parece que los médicos ni siquiera se ponen de acuerdo en nada, ¿cómo se supone que vamos a entender lo que está pasando??
C282Y/H63D Compuesto Heterocigoto
Las personas que son heterocigotas compuestas para C282Y/H63D tienen un mayor riesgo de desarrollar una forma clínicamente más leve de hemocromatosis hereditaria. Esta forma se encuentra en aproximadamente el 3 al 8% de las personas que están clínicamente afectadas por hemocromatosis hereditaria. Aproximadamente el 1% al 2% de las personas con este genotipo desarrollarán evidencia clínica de sobrecarga de hierro. Si bien las personas con este genotipo pueden tener índices de hierro aumentados, muchas no desarrollan la enfermedad clínica sin otros factores precipitantes (hepatitis, abuso de alcohol).
C282Y/S65C Compuesto Heterocigoto
Las personas que son heterocigotas compuestas para C282Y y S65C pueden tener un pequeño riesgo de hemocromatosis leve. Esta variante rara muestra una penetrancia muy baja.
C282Y Heterocigoto
Las personas que son heterocigotas para C282Y pueden tener síntomas leves de hemocromatosis, como letargo, dolor articular y debilidad, pero es poco probable que desarrollen la enfermedad.
H63D Heterocigoto
Las personas que son heterocigotas para H63D es poco probable que tengan síntomas de sobrecarga de hierro y no tienen un riesgo significativamente aumentado de desarrollar la enfermedad.
Nota: Las personas que son heterocigotas para S65C o heterocigotas compuestas H63D/S65C no parecen tener un riesgo medible aumentado de hemocromatosis hereditaria. En consecuencia, la mutación S65C solo se informa cuando es parte del genotipo heterocigoto compuesto C282Y/S65C.
Sorry, my response was meant for Laura who said she was compound heterozygous but you probably realised that.
Quick-fit, are you saying you are only heterozygous (you said your mother was negative and your father was positive)? Maybe you told us that long ago, but the memory bank is not so good anymore.
The latest I heard from Prof John Crowe, Dublin, at a recent conference, is that fatigue is caused by mitochondrial overload. As there was no chance to ask questions after that particular address I did not find out what we can do about it . So I googled it, and the only thing I came up with, is to take CoQ10 - a good one. We need 150-300mgs. I had tried it on and off (as a treat for myself now and then!!!) but can't say any difference was obvious. Now trying BioCeuticals which are bioactive, more expensive of course, but one gets desperate.
Have you had your B12 and Vit D tested too? Probaby a repeat question - sorry!