Monday, January 04, 2010

What is Hereditary Spherocytosis?

You can google hereditary spherocytosis and get accurate documents, especially from reputable websites like webmd.  Here is my interpretation and experience with it.

First of all, it is a genetic disorder.  I was born with it, and I have family members on my mother's side with it.  As far as I know my two siblings do not present with symptoms.  According to the hematologist, my children each have a 50% chance of having it.  Obviously he has not read my blog post on statistics!  Too bad I wasn't on my game, or maybe I would have told him about it.

So what happens is my bone marrow produces some red blood cells that are abnormal, called spherocytes.  They are spherical in shape instead of flat and round.  Their cell walls are missing an important protein.  They don't expand at all (the hematologist said that to test for it years ago they would put cells into sucrose water and they would explode), and don't hold as much oxygen.  When they pass through the spleen they are prematurely destroyed because of the fragility of the cell wall. In people with a mild form of the disorder, the bone marrow simply remakes more blood cells to compensate.  It is possible to live for years without knowing or having symptoms of the disorder, then something (such as a virus) will trigger an aplastic crisis (anemia, low blood counts) and the bone marrow suddenly cannot keep up.  The spleen swells, and the "cure" is to remove the spleen (splenectomy).  This does not stop the bone marrow from making abnormal blood cells.  It does allow the blood cells to have a normal life span, therefore it cures the anemia (and also eliminates the risk of a ruptured spleen and the crisis that involves).

Iron deficient anemia is a little different.  Probably what I have experienced most of my adult life is just that.  It is normal to be anemic during the third trimester of pregnancy, when the baby really starts building its iron stores.  The doctor mentioned I had been as low as 8.8.  I don't actually remember that.  I do remember getting down into the 9's.  I am usually never in the 12's when I am tested (because why would I be tested during any NORMAL time).  Always being on an iron supplement gets me back on track right away.  In this instance, I have been taking iron supplements as soon as I found out.  I'm also not pregnant and can't explain why I would have low iron.  The hematologist said that my iron stores look good, and I'm not taking it for granted (I'll take whatever precious little information he is willing to give).  As a child I was always borderline anemic my mom says.  I remember trying to down liquid iron mixed in orange juice (yuck) and also eating fried chicken livers (not so bad with mustard) my grandmother made.  My spleen was palpable as a child (the doctor could feel it), but it wasn't as I grew and it wasn't during my recent previous pregnancies, according to my doctor.  It is definitely palpable now.  I can feel it, Mitch felt it, and Kristin felt it.  :)

I talked with my regular family doctor today, who helped answer a few remaining questions I have.  She supported the hematologist's decision to remove my spleen, saying that the best evidence was the fact that my numbers went so low and remained low with just a virus.  I should have a pneumococcal vaccine before the surgery and possibly the influenza vaccines as well.  She also said I could ask if the surgeon would like to "take care of" my gallbladder at the same time...he may not, but it wouldn't hurt to ask.  :)  I'm just thinking...there are now gall stones sitting there...and in a possible future pregnancy they could be a problem.  If not in a future pregnancy, just life in general.  That's all I know until after Wednesday!

12 comments:

  1. You don't want to be like the Dugger's and find out the hard way what gallbladder can do to you during a pregnancy!! Get it out!! Love and miss you all!! Stay warm!!

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  2. My husband and pretty much all of the women in his family have spherocytosis. It was passed along to our daughter, now two years old. She has a history of very high (104-106) temps, in which no one can ever give us a reason for. She is very active, a good eater, and a healthy child overall. Lately, however, she has been very tired, falling asleep during meals(even though she sleeps at least 11 hours at night), and has had an extreme loss of apetite. We've seen a specialist when she was a one, and they said there was pretty much nothing they could do until she was 5 or 6 (when they would most likely remove her spleen). I'm very concerned with her recent state, and not sure what to do. I've been told in the past that it is not advisable to give an iron supplement because it is not absorbed correctly, and can cause problems with the liver. Any ideas?

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  3. Yes, as the specialist said, they typically hope to wait until a child is 5 or 6 before doing a splenectomy. First of all, you could simply boost your child's iron by making sure she is getting plenty of iron-rich foods in her diet. Those will be the best absorbed by her body. You could also add a vitamin such as Enfamil Polyvisol with Iron for infants and toddlers. You should be able to have her regular doctor check her hemoglobin to make sure she is not anemic. If she's not, then there probably is not a problem right now with her HS. If she is anemic, then you will want to find out why. That's a good time to try the vitamin. If you give her iron supplements and her hemoglobin is STILL low after that, it would be a good idea to take her back to a specialist. The specialist I saw was a hematologist, but he was also an oncologist. I could have kept taking the maximum daily allowance of iron supplements, but my hemoglobin was NOT going back up--the data indicated my anemia was caused by an overactive spleen, not by iron deficiency. That was the final straw in the decision to remove my spleen.

    It's always important to remember that you are your child's advocate. She has no one else to speak up for her. If something doesn't seem right to you, then you should keep seeing the doctors to get the answers she needs. The symptoms you describe would concern me as a parent, and I would want my child to be seen by her normal doctor. Your normal doctor should do several tests, including a red blood count (hemoglobin). You should document the symptoms you observe to help you remember things and present a clear picture to the doctor.

    Blessings!!

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  4. i have a 9 year old with sphero. he was diagnosed at 1 day old. his normal rbc is 9 or 10. he still has his spleen. he contacted parvo virus 2 years ago, went into aplastic crisis and his bone marrow stopped working for too many days. it finally came back and we were released after 8 days. he lives an active life, sleeps well at night, pale, and his spleen is undetecetable at this time. his case is severe and he was going to have his spleen out, but i opted not to due to everything he could catch. we've been lucky so far. he is a healthy boy, considering his condition. his dad has it, uncle and cousin. we go to children's hosp in NYC and they are fine with him keeping his spleen this long. im afraid of virus' like the swine flu and other virus' that are undetected. you should see a pediatric hemotologist in a large city. i've had different doctors opinions and none were the same. find a doctor who treats this condition. many doctors havent had experience with this...so make sure you find a doctor who has treated it. they are much more knowledgeable about it. the hospital my son was born was so eager for me to have him treated there (it was a teaching hospital) i asked them how many cases they treated, they said none. i found a great doctor who has had many cases and transfered my son days after birth. do not be any doctor's first case-this is serious and u need a doc with experience. living with a 9 year old boy with this condition hasnt been hard. we are careful with his activities, he has gall stones so we watch his diet and control it easily. as long as your child's quality of life isnt hampered by this condition, than i feel no need to remove the spleen. also, i dont give iron supllements because it made him feel sick. my son eats a healthy diet and gets a lot of nutrients thru vegies and fruits. my husband is 51, had his spleen out at 3 adn other than catching a bad cold or bad poison ivy, he's a healthy man. good luck. be an advocate for your child, find a doctor who treats many cases, even if iit's a commute. sooo worth it. because as the child gets older, you will need less visits to the specialist and they can work with your pediatrician. also, the spleen can come out at a very young age, depends on the doctor. we almost had my sons spleen out at 2 but we didnt. so you see, get different opinions. well worth the leg work for peace of mind!!!

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  5. Thanks for the advice. We went to her normal doctor, then to the hospital for a complete blood count. She was low on basically everything. We were sent up to Columbia for an appoinment with a specialist a few weeks later. Of course, by that time, she was not sickly as she was before. They did tell me that her levels were normal for her. She was anemic, which was causing all the problems. She is taking Folic acid again, but not iron. She eats a veggie and fruit-rich diet, and gets plenty from that. Her regular doctor may not be satisfied with the counts, but her specialist is. She is a hematologist, as well as an oncologist, and has a number of patients with spherocytosis. We could not have been happier with the care we received, and have an ongoing annual appoinment. We have strict instructions to get a CBC each time she runs a high fever, and to let them know of any and all changes. We'll just stay on it, and decide on the splenectomy when the time comes, for now, we are just going to do our best to keep her healthy and happy!

    Thanks again!

    kdelinger_08

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  6. My grandson was just diagnosed with spherocytosis. Has anyone heard of non-hereditary spherocytosis? If so, do you know if symptoms, treatment, or seriousness is different?

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  7. Yes, non-hereditary spherocytosis appears to be different. You can start by reading here: http://en.wikipedia.org/wiki/Spherocytosis and then try a google search for "causes of spherocytosis" or "causes of non-hereditary spherocytosis". I would think that if heredity is ruled out, then maybe the doctors would want to find out what else is causing it to happen.

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  8. 6 yrs ago I caught parvo from my child & suffered a severe hemolytic crisis. Spleen has always been enlarged & I've always been anemic though not like during the parvo crisis. Had gallbladder removed at 19. This year during my 3rd pregnancy I had 6 transfusions as my count would drop below 9. We all thought it was the baby but he is 3 mos. Now & just had worst crisis to date. Drs suspect HS due to symptoms & presence of spherocytes. HOWEVER non committal because of # of transfusions ...a lot of my blood now belongs to someone else. Anyone have a similar experience? Anyone know of a New England area specialist?

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  9. I would think that in general you would not have received blood from someone with spherocytosis. If a person knowingly has spherocytosis, they prohibited from donating blood. It is equally unlikely that someone that does not know they have it could give blood, because they are more likely anemic or suffer from anemia often enough that they do not donate. The spherocytes are extremely fragile. If there is a presence of spherocytes and your spleen is enlarged, to me that indicates a need for a splenectomy (there is no cure). It makes more sense to assume that it is YOUR marrow that is producing the spherocytes. Your body is always producing new blood--so regardless of transfusions in the past, I would not say that "a lot of [your] blood belongs to someone else." Look for a hematologist...the one I saw works at a cancer center (he is an oncologist). You also want to make sure that the surgeon you choose is familiar with spherocytosis and has done splenectomies in the past for it. If you have a splenectomy, your body will still produce spherocytes, but your spleen will no longer be there to destroy them--thus your hemoglobin should rise. I am now in my 8th pregnancy and at 8 weeks pg I found out that my hgb count was 13.9--this was amazing!!

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  10. Thank you so much! I suspected as much re: the transfused blood & see a Splenectomy on my future. Good luck w #8. Maybe post-splenectomy I can think about #4. If you or any contacts know of a GOOD New England area center please share. I trust my hematologist but the local hospital probably doesn't have a lot of experience w spherocytosis & related Splenectomies

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  11. My son is 8 and has spherocytosis. No one in my family or my husbands family has it. We have been told it was a spontaneous mutation that caused it. As far as I know they still treat it the same way as Hereditary Spherocytosis. He is generally a healthy kid and has never needed a transfusion. His spleen is enlarged. He will be getting his gallbladder out soon since the gallstones are starting to become a problem. We are not having his spleen removed at this point since it plays such an important role in immunity and his hemaglobin has never been so low that he has needed a transfusion. If one day we do need to make a decision about his spleen we are considering a partial spenectomy.

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  12. I have spherocytosis anemia. I got really sick when I was born, then at the age of 11 then even worse at 20. I was jaundice and hit fevers of 107.1. My physician finally told me that if I did not remove my spleen I would die. So, a month later I had the surgery and I feel better than I did when I was younger. I'm 30 now and I visit my hematoligist once a year. However, the downfall is that now I have a really high platlet count and I'm at risk for blood clots.

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