Sorry it took me a while to respond; I was out over the weekend.
Now for some answers to some questions:
Andy is definitely right in his statements regarding the nature of Hemoglobin H disease. Exactly what type it is - what deletions and if it is a combination of alpha and beta or just alpha - will help determine what complexities will result from the HgH Disease.
Many HgH patients - myself included - have lived our entire lives with Hg levels between 8-10 (mine's 7.X) without being transfused and have adapted ourselves to live with the HgH peaceably with more or less minimal issues.
Other HgH patients have had a harder time - be it lower Hg levels or just the nature of HgH and anemia in itself - and have taken the path to transfusion therapy.
I'm actually caught in between, because despite me saying that I've managed fine for 24 years without transfusion therapy, I do believe that a lot of my issues that I've encountered the last 4 years or so in my life could maybe have been avoided if I had been on transfusion therapy, which would theoretically have given me more energy to take on the various challenges in life.
But that's also a what if.
The fact of the matter remains that:
I'm 24. I've had a 7.something Hg level all my life as far as I know and remember. I graduated high school on time. I attended university on-time and got accepted into a competitive university to boot. I managed with some difficulty to get through my classes and keep up with my university level peers. I've also struggled with issues that may or may not be related to my low hemoglobin count, like depression and catching illnesses at all the wrong times and with annoying frequency and not being able to literally catch up with my peers in physical activities or sometimes just in class due to exhaustion.
So here's a rundown of my story.
To reiterate, I got diagnosed when I was approximately 12 months old. The doctor didn't consider the possibility of thalassemia when I was first diagnosed and so I was misdiagnosed as having iron deficiency-related anemia.
It turned out that I didn't have iron-deficiency anemia because I didn't 'get better' (my paleness didn't go away) with iron supplements and my doctor sent my blood in for a more complete workup which showed my HgH Disease. Of course, I stopped iron supplements and went to folic acid supplements instead, which I do believe did help!
I do believe that my HgH is 3-gene deletional, though my hematologist is seriously questioning the possibility of having HgH Constant Spring, which is a variation of HgH. The reason for the questioning comes from the fact that my hemoglobin levels are on the 'lower' end (7.X) of what's expected in a typical healthy HgH Disease patient, which is 8-10. Constant Spring tends to have a lower Hg level that's in the 7s rather than 8-10.
I believe what the doctor means when he says that the severity of the HgH depends on where the patient comes from stems from the fact that certain variations of HgH tends to show itself in certain ethnic groups. It doesn't mean it does, but it does mean that there's a tendency for it. I'm Taiwanese and my parents came from Taiwan and I have 3-deletional gene HgH Disease or so I've been told. I'll be doing another blood workup to verify this later.
ON IRON SUPPLEMENTS:It's hard to say whether or not iron supplements should be used and my advice is to ask the doctor to test for iron levels in the blood to make absolutely sure that there actually IS a deficiency of iron.
HgH, like the other thalassemias, has the problem with iron overload and I have two and a half times the 'normal' iron load and THAT is considered 'normal' for someone who has my type of thalassemia and hasn't been transfused. Obviously, you don't want to overload on iron supplements if you already have an iron overload.
If there IS an iron deficiency, iron will be okay to take because that means within your blodostream itself, there either isn't enough iron or the iron isn't easily used by your body, but I definitely recommend monitoring iron absorption. My mother taught me that you watch the color of the stools to see if the iron's been absorbed. Dark to even black stools indicate absorption and lighter to normal colors indicate non-absorption, which means the liver will possibly be hoarding away the iron, which isn't good.
Another thing too, is, if the iron deficiency is only a little bit, consider using natural methods of ingseting iron. Leafy greens like spinach and kale and a bit of red meat (if this is allowed in your diet) are all more easily absorbed than iron pills or even iron drops.
Since I never had a problem with iron deficiency (we had a lovely garden at my old house and we got lots of fresh veggies!), I avoided high-iron foods like fortified cereals and breads and breakfast items, and too much red meat and shellfish that are known to have a lot of iron.
ON DIETS:Provided that iron deficiency is NOT an issue, a diet that avoids high levels of iron is much recommended. Also, avoid FAVA BEANS.
ON THINGS TO AVOID:There used to be a great PDF handout I used to have, but can't find anymore, and it detailed a good list of things to avoid. If someone else has one, please do post! I know I have a copy -somewhere- on my computer, but can't find it at the moment.
Mostly, though, avoid fava beans, mothballs, and sulfa drugs and other foods, chemicals (like benzene), or drugs with OXIDANTS in them. Oxidants promote hemolysis (breaking apart of red blood cells) and that's something to avoid if at all possible.
When the child becomes an adult, it's prudent to avoid excessive alcoholic ingestion. I have extremely low alcohol tolerance because of my HgH and I have gotten alcohol poisoning from having only a 'little bit' of a drink and almost got sent to the ER.
The reason to avoid it is because alcohol has a tendency to thin the blood and where one might think it's good to thin it because of the iron, it actually works in reverse and makes one light headed and can actually cause a drop in Hg levels.
I believe this has something to do with accelerated oxidation of red blood cells?
ON ILLNESSES:This is something definitely to talk about.
HgH patients oftentimes are more prone to illnesses and if they catch an illness, it will hit them a lot harder and for a lot longer. Careful medical attention and care is absolutely necessary.
Illnesses should not be allowed to prolong any longer than absolutely necessary and fevers especially are to be taken care of as soon as possible because of the complication of increased hemolysis (breaking apart of red blood cells). Fevers are particularly bad for this reason because it helps promote the breaking down of red blood cells.
If a fever goes on for too long, enough damage to the blood cells might be done to require a transfusion, especially if the patient has a fairly low Hg level to begin with.
I was actually quite sickly as a child and came down with sever upper respiratory infections frequently. My other was oftentimes at my bedside to make sure my fever wasn't getting worse and to make sure I was drinking enough water and keeping my fluids down and making sure I wasn't getting too anemic if my illness was bad enough.
Also, it was very important to make sure the illness had completely gone away, too, and to not overwork/overstress me during recovery time. IE: If the child has just gotten over a cold, do not let him or her out to play in the rain or get too cold because the child is more than likely more prone to relapse into illness again.
I've been hospitalized as a toddler before because of double pneumonia and its pesky fever that just didn't want to go away, but I never needed transfusions even though my Hg levels dropped to 6.
Nowadays, I still catch colds on and off and when I do, they still hit me harder and take longer for me to recover, but as long as I take care of myself and don't push myself during that time, I will make a sound recovery and that's that.
OTHER THOUGHTS:Something I really appreciated my mother doing for me is giving me both as normal of a life as possible while still giving me specialized medical and personal attention when I needed it.
I had a hard time going through my schooling because I was frequently sick and I was physically not very strong and didn't have very good endurance and so I didn't do well with sports and was thus teased mercilessly by my peers.
But my parents pushed me to do what -I- could, comforted me when I couldn't do it, and kept encouraging me to exercise and not let my experiences in PE color my point of view on exercise in general.
I loved swimming as a young child and still do and I love going for walks and taking hikes at MY pace.
I couldn't and can't catch up with everyone wanting to run a mile or jog up a steep path, but I can walk my way there and get a good deal of exercise out of it.
My parents also encouraged me to listen to my body.
If I was tired, then I was tired. If I was hungry, then I was hungry.
I tried to keep as normal of eating and sleeping schedules as possible, but depending on how much activity I had done in the day, I might need a nap or an extra mini meal and that was okay. Sometimes, I was exhausted to the point of sleeping 10-12 hours after a particularly rough day and that was okay, too.
I'll add here that I wasn't transfused and so my Hg levels were pretty low and thus, I was probably more easily tired than other people with higher Hg levels.
My parents avoided taking me to the mall and other heavily populated places during the cold and flu season because I always seemed to get sick during those times.
My time outside in really cold or rainy weather was more limited than my sisters' times were and where I thought that to be unfair, it made sense.
Everything was 'normal' until I caught a bad cold, more or less, and I was treated 'normally' for the most part, though I believe my teachers didn't quite understand the nature of thalassemia at the time.
RANDOMNESS:I'm 5'4" now, but as a child, I was short and small and stayed short and small for quite a while until I had my growth spurts. According to the doctor, I developed normally and fully, if a bit slower. I believe this was due to the superb care I received from my mother and my doctors as a child.
I had horrible leg pains when I was a child up until I was a teenager. I think they were growing pains because they ached only at night and mostly went away during the day. Some doctors have told me that such pains are not unusual for HgH patients.
I've been transfused twice, both times within the last 2 years in an attempt to see if transfusion therapy would boost my Hg levels and my energy levels. Because of my low Hg, I would need a more constant transfusion therapy to really see if transfusing makes a difference and because of issues of constant fatigue, illnesses, and chronic depression, I'm considering transfusion therapy to see if elevating my Hg levels would help combat those issues.
During my first visit to the hematologist, my hematologist was delighted to see that aside from my HgH disease, everything else he measured was okay - thyroid, various vitamins and minerals levels, etc. Credit goes to my parents who were mindful in how they cared for me.
So that's what I can think of off the top of my head Leandra and I hope it helps some.
If you or anyone else have any other questions, please feel free to ask away!