Scared about Hereditary spherocytosis and need advice

I am 29 year old male and I recently found out that I have Hereditary Spherocytosis. Apparently my parents knew that I had Hereditary spherocytosis since I was a baby, but didn't tell me, and I had to go to the ER for pnemonia to find out.

Child Abuse? I can't understand for the life of me why my parents didn't tell me. Also I have an enlarged spleen which makes matters worse.

I had my gallbladder removed at the age of 26, due to gallstones. I don't know if Hereditary spherocytosis and the Gallstones were connected, because I do have high biliburin, but there was no pigmentation that should occur with HS, and to be honest I don't really exercise and my diet is mostly junk food, but I am improving. So maybe Hereditary spherocytosis and diet lead to my gallbladder being removed.

As I said I found out about HS when I went to the ER as I had pneumonia and mono at the same time. For the past few months they have been running all sorts of tests, my Retic Auto is 8.3% or 420 Count. I recently did an ultrasound and my spleen is about 23cm, which is severely enlarged, but some of it might be due to the mono. My hematologist told me that I should wait a few months and take some more tests just to see my baseline. Also they are running tests, as I might have Thalassemia traits, which is really not of concern unless I marry someone with Thalassemia and pass it on to kids.

I just need advice from people that have had similar issues with HS. I am only anemic when I get sick, but normally my hemoglobin is around the low end of the standard range.

My concern is that I am always tired and fatigued. For a long long time, I have been tired and fatigued and knew that it wasn't normally. I would go to school and just pass out, I would come back from work and be dead tired. Just felt like complete exhaustion from doing things. It gets to the point where I don't think I can have kids, as it is so so hard for me to get up in the morning. I barely have enough energy for myself, let alone other people.

My doctor is thinking of recommending a splenectomy, due to the anemia and the fact that my spleen is so large that a rupture would be devastating. I am 29 and already have taken out my appendix and my gallbladder, and getting scared from another surgery at such a young age. I should be running marathons not going to doctors all the time.

I don't know if I have mild or severe HS, but just wondering if people with similar situations had a lot of energy after a splenectomy. Was quality of life better? I just want to live a normal life, but worried about the cons of a splenectomy, with the issues of being more vulnerable of some illnesses.

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Hi pal. I feel for you. Ive been there all my life. First I can tell you if you get rid of your spleen it will improve your quality of life. Your gallbladder problems are a result of red cells breaking down so fast, typical of HS. You will have headaches, sore muscles/joints, shortness of breath if you are moderate/severe. I was transfusion dependent until splenectomy at age 5. My Hbg ranges 9. to 10 since with elevated bilirubin of4.to -5.0. My levels worsen quickly if I get sick or loose sleep. Find a good hemotologist.If he tells you to take iron without testing your iron levels[mine are high] run out the door. I have 5 healthy children.NoHS.Hang in there. It'll get better. Katine

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I understand. I have spherocytosis and I had gallstones about the same age as you. The gallstones are directly caused by the spherocytosis. The concentration of bilirubin in your gallbladder gets so high that it solidifies out as the gallstones. It's unlikely your diet had anything to do with it. 40% of 20 year olds with spherocytosis have gallstones. You've probably done the right thing having your gallbladder out - this is a problem that often recurs unless treated.

Rupture of the spleen caused by spherocytosis is very rare. The decision to have your spleen removed should look at the risk of having no spleen versus the potential benefit of alleviating the symptoms of spherocytosis. There are life-threatening risks of not having a spleen, but if you are vaccinated against a range of infections (pneumococcus etc.) and get regular boosters then these risks are much lower. Are you capable of making sure you get an influenza vaccine every year for the rest of your life? The advice is normally that if you have a mild case of spherocytosis then you should keep your spleen. If your hemoglobin is at the low end of normal then you probably have a mild case.

I have mild spherocytosis and I've kept my spleen, but I know others who have had their spleen removed. I also knew someone who died from blood sepsis because they had no spleen.

Are you taking any folic acid? This is needed for your body to make more red blood cells and you're making more than most people. Perhaps, this will help you with your tiredness. Katine is quite right about iron supplements. Don't take these unless you've been tested as having low iron levels. Spherocytosis can often lead to excessive iron levels which can damage your liver.

ChrisG - creator of spherocytosis.info (an information site for spherocytosis).

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Hey there,

I am a 32 mom of four. I have HS, never had any issues but the occasional low iron count and enlarged spleen. Last year I had terrible pain, found out gallbladder was bad and spleen was huge, I believe it was 23cm when they removed it. I had open surgery
to remove both spleen and gallbladder. It took about 7 days before I could go home. I had a nasty GI tube down my throat for 4 days, but I made it through fine. I have my vaccinations, no more jaundice and normal counts. I was very happy I went through with it.
I would reccomend you do it too. Good luck

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HI Mikesha-My sister married a man with HS-no DNA profiles back then-;^))Anyway-to make a long story short-all her 4 kids had splenectomies-and all have perfectly normal lives-incl. having normal children--so removing the spleen reduces the rate at which the red cells are being destroyed--and having spherocytes even hastens the red cell destruction-which accounts for the anemia.
My brother-in-law-Herb apparently was the first splenectomy for HS done in Canada-his only claim to "fame"-;^))
Anyway-I do hope your health improves-Best Wishes-v152

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I can understand your fear. I am the 3rd generation in my family to have HS. I have passed it on to 2 of my 3 kids. Even though I knew about HS and requested testing, I had a doctor tell me not worry about it I didn't have it. I was finally diagnosed at age 30 when I was pregnant with my first child and was severely anemic. As my pregnancy continued and a second pregnancy ensued my spleen enlarged. I had my spleen removed at age 33. I have had so much more energy since having my spleen removed. I do not take a prophylactic antibiotic but do know that when I start to feel feverish I need to see a doctor. I would recommend finding a hematologist in your area that understand HS and works with adults. My experience has been that many doctors who treat adults have limited knowledge about HS. I have learned more from my kids pediatric hematologist than my own. When I started looking for information on HS there was very limited information. The information available online has mushroomed since I was first diagnosed. My father had his spleen removed at age 21 and is now 70 yrs old. So you can live a normal life, yes there are other side effects but they can be managed.

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Hi!
Did you end up getting it removed?

I'm 17 and I'm starting to get a little worried too, but I don't want to get it removed anytime soon...
Does anyone know what happens if you don't get anything removed and the disease gets severe?

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Side effects if the spleen is not removed can be anemia, lethargy, forgetfulness, jaundice, some viruses can cause anemic crisis where your bone marrow doesn't produce bloodcells. This could end up in transfusion. As the disease progresses when the spleen enlarges, you can experience abdominal pain and you could experience splenemic rupture. You do not want that to happen. I would recommend that anybody that has HS have a hemologist that you work with. I see mine every couple of years now, we work with my family doctor to watch my platelet counts and currently do very little maintenance. Basically what I am saying is learn about the disease, find out how severe your case is, contact a hematologist and work with them to manage it. I had a laproscopic splenectomy, four small incisions and some recovery time. I have been relatively healthy since, a couple of bouts with strep throat here and there. Make sure you get your flu shot and pneumonia every year.

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I hope you are doing well. It can be terrifying to find out you have something like this. Don't hold it against your parents. Parents are people too and we do the best we can with what we think is right. I'm sure they had their reasons for not telling you. My parents told me about it because my father had his spleen and gallbladder removed when I was about 16. It made no difference in my life except that I knew to look for it should I end up in the hospital. Now, even after I've told my doctor of my genetic history he still thinks I'm crazy. So, knowing is only half the battle.

I hope you have a good doc and a good hemotologist. Be educated about what tests you need. If you can understand medical lingo I found an awesome site: http://www.ncbi.nlm.nih.gov/books/NBK258/ This tells you what your doc's should be looking for. My dad's doc (a family friend) called me and helped me through many of my fears and gave me what I need to know to take care of myself. He said keep in mind that this is extrememly rare and not all doctors will be familiar with it so sometimes you'll need to educate your doc. The most important thing is to be informed.

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I actually just went to my hematologist for a follow-up because I had pneumonia when I was originally diagnosed with HS. So the doctor said that I am at my baseline again. My spleen still measures 20-21 cm and my hemoglobin is at the lower end of the normal range, and my Retic Auto is around 8%. He said that I should have the surgery, but it would have to be an open surgery because my spleen is so big.

I am most likely going to get a second opinion, but I am gearing towards having this surgery. My doctor said that the biggest risk is that my spleen could rupture or my hemoglobin could drop to low levels when I get sick. I just really want to have the surgery because of my energy levels. There is no way that I could have kids right now or get married right now.

I have maybe 6-7 hours of sleep a night, but when I come home from work, I am dead tired and I collapse on my bed. Like there would be no way I could take care of children. If I don't have this surgery, or if my energy levels doesn't improve after the surgery, than I am going to have to make a choice if I should get married or not. It is just hard for people to understand how debilitating this is. I am only 30, and the girls I dated in my previous relationships would always comment on me always being tired. I honesty wouldn't be able to get up in the mornings and it would be embarrassing. I feel like a 60 year old man.

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I am 34 years old. had my spleen taken out when i was 9 years old. My Hemaglobin (Hgb) used to be 8 and now is 15. I am married with 2 children and 1 on the way.
There is no reason why shouldn't have a normal life!
Take your spleen out. you will be as normal as anybody else. I sleep 7 hours a night and am fine. not tired.

Do it ASAP so that you can continue with your life. It will take you a few weeks to recover, but in your case it is well worth it.

Good luck and stay strong.
Jonathan

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Hi Mike,

I am 30 and never really knew about HS until I had it act up at 27. I had no energy, where I couldn't get off the couch. My skin was yellow. I was dizzy all the time. I had lots of test which showed my counts were all low, but my iron was fine. The Doctor told me to take Folic Acid and with in two days, I felt so much better. I have continued taking a higher amount then a normal vitamin has and I have not needed to take a nap everyday around 2. I also try to get more sun light to keep my Vitamin D level up. I still have my spleen, and I get blood test every couple of years unless I feel off.

Hope you are feeling better and please keep us posted.

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I have had my spleen and my gallbladder out. I do not suffer from any major fatigue at all. i was a competitve runner and really you will feel a lot more energy once you have the spleen out. Dont be too scared really of this disorder. my mom has it, and is 80 and in great shape, with no spleen.

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ncgas: What was your energy level like before you had your spleen removed?

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Hi everybody,

I posted a couple of months ago. since then my newborn baby has also been diagnosed with HS. has had 2 blood transfusion.
I also discovered that I have Gall bladder stones. I am 34 and probably have them for many years. I am contemplating whether to take the gallbladder out. I am wondering what is the research with silent stones in the gallbladder that originate from of high bilirubin and not from eating faty food. does anybody know?

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I really couldn't tell you , I was 2. I have 2 kids who have this also though. Both had spleens removed at about age 7 and 9. My daughter was always tired. She had very low red blood cell counts. When I say tired, I mean exhausted from a day of school, couldn't keep up with the other kids in normal physical activity. We struggled to get her to do any homework at all, because she was wiped from the school day. Now she swims on a swim team, and is a straight A student, and I have to tell her to go to sleep. she is fine . my son had similar fatigue issues, but with him it went more in waves. His blood counts would drop and he could really just not function, complete fatigue. He is now a college athlete.

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Hi,

I wanted to give an update on my condition. After reviewing the information and getting a second and third opinion I decided to do the surgery. I should note that the 2nd and 3rd opinion were 50/50 on me having the surgery. But I trusted my first doctor who diagnosed all the issues and told me that my spleen might rupture.

So I had the surgery on July 11, 2012, and my spleen was actually bigger than the ultrasound showed. My spleen measured 25-26 cm, which is up for 20-21 cm that the ultrasound showed. The surgeon did a laparoscopy and open surgery. I have five small incisions and an small opening. I am not surprised because the surgeon told me that it was a pretty huge spleen.

I won't lie this was a very very hard procedure. I am only 5 days out, but it was a very tough and I had to spend 4 nights in the hospital. I could have stayed an extra night, but I was going crazy. I have to go back to the doctor in a few days to remove the staples and this is going to a tough and long recovery.

I still don't know if I made the right decision. The hematologists told me that I had a mild case, which wouldn't warrant a splenectomy, but I also had thalassemia, along with hereditary spherocytosis and the enlarged spleen. But I just recently turned 30 and I am hoping that in a few months my energy level will increase and I will have a markedly better energy output.

I am worried about all the risks in removing my spleen, the list of infections just goes on and on, but hopefully I made the right decision. But just a note, this a very long and tough process and I can't even tell you the amount of pain and anguish. I think I have cried on 5 different occasions, just at the fact that I am 30 and getting a spleen removed, instead of being married or out with friends or traveling, etc.

But if anyone needs to talk, please contact me, cause no one really understand it, other than than people with similar symptoms.

I will write another update in a few weeks, I am told that I will be fully healed in about 6 weeks.

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Mikesha--I am glad you made the right choice re surgery--I am sure you will be as right as rain and buzzing with new found energy-Best wishes-v152

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Thank you for the wishes. This has probably been one of the hardest things I have done in my life. The pain has been unbearable and just the lack of mobility. I've basically been stuck in my brother's house for the past three days and that is after spending four days in the hospital. I just pray to g-d that I made the right decision and the healing process and ends sooner rather than later. I am 30 and have had a gallbladder surgery and now this. I hope this will be the end.

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Hi,

It's been about 20 says since my surgery and while it hasn't been easy, I believe I made the right decision.

I do feel better than before and I do feel like I have more energy, even 20 days after the surgery. My hematologist said that it would be 2-3 months before my body fully adjusts to not having a spleen.

My spleen was so big that they had to have an open surgery and my incision is still covered up, so I don't know how big or bad it is.

I am suppose to see my hematologist in a few weeks and I will post again and report back my blood test results. I am hoping my bilirubin is more normal and that my blood production isn't as extreme as it was before. I am supposed to get my pathology report in a few days.

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Hi,

Just wanted to say that things are going well. It has been one month after the surgery and I feel as good as before the surgery. Hopefully my body adjusts and I will have more energy in a few months. I have to take baby aspirin because my platelet count is very high after the surgery, and I am going in for a checkup soon to see if I need to keep taking aspirin or do anything else.

The only thing that really frustrates me was that my spleen was so big, so now I have pretty big scar running down my belly button. Just hard to see a huge scar every time I look in the mirror at 30, honestly I have cried a few times since the surgery. Not only do I have a huge incision, I also have 5 other small incisions over my belly, and it is super tough to see it.

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