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Celiac Disease Pre-Diagnosis, Testing & Symptoms
If you haven't yet been diagnosed this is the place you can discuss your symptoms and any test results that may indicate that you might have the disease.
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- Scott Adams replied to Fabrizio's topic in Related Issues & Disorders11Kan-101
Another one bites the dust! Oh well...- 1
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- Shelley22 replied to Fabrizio's topic in Related Issues & Disorders11Kan-101
KAN-101 may be dead: https://www.reddit.com/r/Celiac/comments/1mnd628/kan101_is_dead_in_the_water_i_believe/- 1
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- Scott Adams replied to Kirita's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms3
Help with genetic testing
The genetic testing results you provided indicate that your child carries two copies of the HLA-DQ2.5 beta chain (DQ Beta 1 *02:01, *02:01), which is a high-risk genetic marker for celiac disease. However, the alpha chain (DQ Alpha 1 *05:01, *05) is only partially present, as HLA-DQ2.5 typically requires the alpha chain *05:01 paired with the beta chain ...- 1
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I started my gluten-free journey about 13 years ago so I'm not new to this, but every once in a while something hits me hard. My group in the office decided to go to lunch for 2 birthdays and I was thrilled to find out it was at a restaurant that had options for me. No sipping water while I dread questions about why I'm not eating (they know I have celiac, but I think they assume its fine if it's not breaded). I had to run straight from a meeting to this lunch so I made sure I knew where and when it was before going to my meeting and let someone know I would be a few minutes late. I asked the host at the restaurant and he said they only had one group there (it wasn't my group) so I figured they were running late and texted to ask where they were. 20 minutes later I got a text that they decided to change the restaurant (20 minutes before lunch) and just... forgot to tell me I guess. Add to that, the new restaurant was very unsafe for me. Normally I still join anyways, I just eat before we go. But now I would be 30+ minutes late to lunch, hangry because I thought I would get to eat at lunch, and upset at not being notified of the change, so I went home instead of trying to join. Sorry about the long rant, I'm just feeling sad and really hating having celiac today.
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By Scott Adams · Posted
The genetic testing results you provided indicate that your child carries two copies of the HLA-DQ2.5 beta chain (DQ Beta 1 *02:01, *02:01), which is a high-risk genetic marker for celiac disease. However, the alpha chain (DQ Alpha 1 *05:01, *05) is only partially present, as HLA-DQ2.5 typically requires the alpha chain *05:01 paired with the beta chain 02:01. Since your child has two copies of the beta chain (02:01) but only one full *05:01 alpha allele (the other appears truncated as *05), this suggests they are heterozygous for HLA-DQ2.5 rather than homozygous. The term "permissive for celiac disease" means your child has genetic susceptibility but not necessarily the highest-risk genotype (homozygous DQ2.5). Since celiac disease development also depends on environmental triggers and other factors, further testing (such as antibody screening or biopsy) may be needed to confirm a diagnosis. Consulting a genetic counselor or gastroenterologist can help clarify these results and next steps.
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