Hi everyone I am new to this board and have spent some time reading through some of the posts on here but haven't found anything similar to my condition so I am looking for advice.
I am 27 years old I live in Sydney and I'm a mother of 3 kids aged nine, four and 8 weeks.
I found out I was a Beta thal carrier when I was 5. I had a blood test because I was very small but otherwise healthy so the Doctors wanted to rule out any serious health problems. They did find that I was a thal beta carrier (Hb around 88 from memory) which I inherited from my mother. They were not concerned by this and no further tests were done.
I had 2 healthy children but was quite sick during my pregnancy with a Hb of 65-75. I was seeing specialist Obstetricians throughout both pregnancies but there was no concern for the low Hb seeing as I was a thal b carrier.
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Last year during my 3rd pregnancy one of my Obstetricians was concerned about my low Hb (75) and referred me to a wonderful Haematologist who performed Genetic testing and urged me to have a transfusion. At 33 wees I had 2 units and my Hb went up to 108 (Wow! For the first time in my life I had red cheeks and felt great, I could not stop smiling for days)
My Genetic testing results came back positive for Thal B minor trait + Triplicated Alpha Genes. My partner was tested for both and thankfully cleared. My baby had genetic testing via his cord blood and I've just recently found out that he is also Thal Intermedia. I feel quite shocked and overwhelmed as with a 1/4 chance of thal; and 1/4 chance of triplicated alpha gene I did not think he would inherit either let alone both. I am eagerly awaiting to see paediatric haematologist in July where I will follow up for my baby and also have genetic testing done for my 2 other kids.
My Haematologist has informed me about possible iron overload among other things but she is satisfied with my health at the moment so I will continue to see her twice a year and hope for the best. She has also performed genetic testing on my mother but it will take a couple of months before we get the results.
I have gone my whole life feeling tired with a Hb around 90-100. I can literally sleep for 12 hours and still wake up tired. I can not believe that If it wasn't for my last pregnancy I would never have known about my condition.
This is all so new to me so I would really love to hear from anyone with advice.