I have two randparents from Sicily. My dad had Thalassemia Beta Trait, I and all of my siblings have it (4 total), my three children have it. This does not fit the typical pattern, so I have been wondering if we might have the rare dominant form.
I have some questions and am extremely appreciative for any guidance offered!
How to get genetic testing? Would testing one of us be sufficient to diagnose, and if so, which generation? My two grandchildren?
I have high blood sugar, but not diabetic levels, which is actually easy to control by avoiding sugar and carbs. What is the relationship between high blood sugar and Thalassemia? Beta-something?
I especially want to help one grandchild (10) who is very overweight, and I would love to be able to help her normalize her weight as it seems to be affecting her ankle bones. She also has diagnosed brain issues, anxiety, panic attacks, tantrums, even bedwetting, as she just can't wake up once she falls asleep.
My mother, who did not have it, used to say her kids all had tired Italian blood, as she was used to seeing more active children than we were. My children also exhibit fatigue, they are all in their 30s, and cannot wait for the weekend to sleep in, even though they are all sports active. Not me, all I can do anymore is walk.
I have so many issues from head to toes. Over the years (63) I have had what I feel are too many medical conditions. Foot pain (diagnosed plantar fasc.) Shin splints if I walk without warming up with a long period of slow walking (had this in chilhood and teen years, not age nor weight related.) Childhood inability to keep up with other kids in running and sports, I was miserable in hockey and lacrosse, ok in gymnastics. Joint pain and muscle pain especially if I overdo exercise. Very painful cellulitis on upper thighs and hips. Kidney stones. GERD. Several occasional extreme gastric pain episodes with visits to the ER, unexplained by gall bladder problems, there were no stones. Unexplained abdominal pains. Cardiac vasospasm (recorded during an angiogram.) Angina. Overdoing physical activity causes typical heart symptoms, headache, angina, left arm pain, etc, but no enzymes. Minor heart arrhythmia. Cerebral vasospasm. Dizzyness. Sleep apnea with CPAP treatment. Fibromyalgia and myofascial hardening. Early stage osteoporosis. New last year is mild asthma. New this year is high blood pressure, which began after a cardiac episode in August, and since then exercise intolerance, (cannot push through it, get faint, nausia, headache.) And the aforementioned high blood sugar. Very short stature, the only person in my elementary school grades and in high school who was shorter has dwarfism. My kids are shorter than predicted too, well below the 10% line on the growth chart. Fortunately, they are all intelligent, and responsible adults. So, is it possible some of these are Thalassemia-related?
I went to a local "blood dr" last year wanting to finally nail down the cause of my fatigue, as the CPAP helps, but didn't cure it, who basically read me a textbook description. I already know I have Thal B from testing done during my first pregnancy, and fetal compensators. This doctor ignored my question about the dominant pattern I wonder about in my family, on both expensive visits. He said I have enough iron, no treatment needed, Thal B is symptomless.
Again, thank you for any help with this. It will help 9 people in my immediate family, and possibly cousins too.