I wish I’d gone with my mother to her last appointment with her new hematologist, because according to her among other things she’s being tested to see if she has some sort of hereditary blood disorder, the name of which she didn’t write down. My interest in it is her insistence that the doctor said if she has whatever it is there’s a 100% certainty that my brother and I do too. She has a variation of sickle cell anemia (which tends to surprise medical types before they realize she’s 1/8 black) but said it has nothing to do with that.
Hopefully the test results will arrive soon, but until then any guesses what it is? I can’t think of any blood diseases that are always inherited by one’s children.
Well, any recessive X-chromosome-linked hereditary disorder would do, right? She would have to have two copies, and since you and your brother are (I assume) male and would thus have only 1 X-chromosome total (edit: that is, 1 total each), you’d only have to inherit one to get it, and the chances of that would be 100% since both her copies would have to have it, right?
Hemophilia, perhaps?
Edit number 2: okay, I just realized that’s a pretty stupid suggestion, since you’d have to know by now that you have it, given that it’s a clotting disorder. Isn’t it usually diagnosed quite young?
Well, there’s the classic: X-linked hemophilia. If your mother has the disease, she’s homozygous, because it’s recessive, and all sons would definitely inherit one of her X chromosomes, which will always cause hemophilia in males.
However, he’s more likely testing for an autosomal dominant blood disorder, and may be testing whether she’s homozygous – if both of her whatever-it-is genes are positive, your single copy will cause the disease.
This assumes that she got the doctor’s story right, and isn’t just saying that you’ll be a carrier.
Sorry, took me a while to get back to this. As you’re female, the only possibility is an autosomal dominant disorder; however, there are several, and more are being discovered.
Factor V Leiden clotting disorder, thrombocytopenia, red cell macrocytosis, antithrombin deficiency, and benign neutropenia all come up in my search. Of these, only macrocytosis seems likely to have gone unnoticed until now, but IANAD, and clinical details often escape me.
If I find out, I will but I’m not sure that the lab will report on negative results if she doesn’t have whatever it is.
Von Willebrand disease wouldn’t really surprise me, because as long as I can remember she’s bruised badly for no reason and worries doctors when they preform clotting time tests. It doesn’t look like it’s always inherited by one’s kids, though, and Vynce and I don’t have any of the symptoms ourselves. It’s possible that the doctor meant we’d have it or be carriers, and said that ambigiously.
The blood genetic disorder, haemochromatosis, runs in my family. It’s too much iron in your blood. The oversaturated iron is deposited in organs such as the heart, the liver and the pancreas. Eventually, if not treated, the extra iron in these organs causes them to stop functioning.
My dad had the disease so he was homozygous for the recessive gene. I have two brothers and one cousin who are also homozygous. I am heterozygous. My wife had to get blood tested to determine if she was heterozygous so that we would know to get our two children genetically screened. She’s not heterozygous, she doesn’t possess the recessive gene, so the kids are safe.
But I don’t think that haemochromatosis would be the culprit in your case. If your mother had the disorder, it wouldn’t necessarily mean that both you and your brother would suffer from it. Haemochromatosis needs both recessive genes to show. I am proof that a single recessive gene will not produce the disorder.
I know more about hemochromatosis than anyone really wants to know. Even homozygotes have a lowish risk of developing actual disease because there are so many other factors involved - mainly diet. Problems are caused by very long-term buildup of iron to very high levels, so simply eating a diet low in iron will take care of the risk in most people. Women, in particular, have almost no chance of having problems, no matter their genetic makeup, because they lose so much blood via menstruation. I’ll stop before I start rambling about the molecular biology of the mutation.
My brothers and my father, when he was still alive, have to have blood removed on a regular basis. It’s like they make a regular blood donation but no one can use their donation.
Yep. The treatment for hemochromatosis is the oldest in the book - bloodletting. Though they call it “theraputic phlebotomy” to make it sound more modern. The best way to get rid of iron is to remove some blood.
I have it, in the minor form. A single parent having it doesn’t guarantee the child will have it but even if you are a carrier (the minor form) it is unlikely to be harmful in and of itself unless you go to have children with someone who is also a carrier.
