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Does anyone know of any new research or treatment for
HEREDITARY SPHEROCYTOSIS?
My husband, our two children, and now our grandchild has this blood disorder.
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HEREDITARY SPHEROCYTOSIS
- By csmp
- Posted May 27, 2008 at 7:15 pm · 67 replies
- In Tips for caregivers
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- By Blblues_1
- Posted November 15, 2009 at 9:03 am
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No I believe that there is 2 parts to this test. I will look through my paper work and let you know.
- By Blblues_1
- Posted November 15, 2009 at 8:59 am
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I was lucky to have one of the greatest hemotologist. I don't just say that, I lost him to the Mayo Clinic, I believe. He was offered the head of Hemotology. In my mind that is one of the best! Any way so sad to lose him. I have 3 baby boys with HS. 2 are worse than the 3rd. My youngest, who is 10 months, has never had a blood cound higher than 8. The hemotologist said not to transfuse him until he hits 6. Transfusing these children are not going to atomatically make their counts stay stable. Some are just going to be low. However, you have to do what you feel comfortable with. I myself have lived with this disease for 32 years so I know what to expect. As I say you are your child's best advocate. Don't let these Doctors bully you!!!
- By cemebel7
- Posted November 14, 2009 at 1:47 pm
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The retic count was part of the blood work I was talking about. The last time she was at 7 and sent us home they did another test to determine if a transfusion was actually needed. Not sure what that one was though since they had already did a retic count. They are great at Children's but was wondering about the Department at U-M. Not sure how much focus is given to H.S. there. I came across better information from a Children's Hospital in Seattle. They actually recommend Folic Acid and some other supplements for all patients. Where as the dept. at Children's Detroit basis those supplements on current bloodwork status. If you have any information from Mott's Children's in Ann Arbor please email me.
- By JMsMomma
- Posted November 14, 2009 at 8:26 am
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Hi CEMEMBEL - We are in the Detroit area too! We live in the western suburbs and take our son to the pediatric hematology/oncology group at Beaumont in Royal Oak. (Thinking of moving to the U of M group because we are half way between Ann Arbor and Royal Oak.)
Thanks so much for your reply. Interesting that different docs have such different thresholds for transfusion. What our hema's told us was that adults don't need to worry until they are at 7 or below. But since children are in critical growth stages, they often choose to transfuse at higher levels, especially if their retic low is lower than they would like. (Meaning that it doesn't appear that their bone marrow is "ramping up production" to meet the need for new red blood cells.)
I really appreciate you sharing your experience. I hear that the group you take your children to is terrific.
- By JMsMomma
- Posted November 14, 2009 at 8:26 am
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Hi CEMEMBEL - We are in the Detroit area too! We live in the western suburbs and take our son to the pediatric hematology/oncology group at Beaumont in Royal Oak. (Thinking of moving to the U of M group because we are half way between Ann Arbor and Royal Oak.)
Thanks so much for your reply. Interesting that different docs have such different thresholds for transfusion. What our hema's told us was that adults don't need to worry until they are at 7 or below. But since children are in critical growth stages, they often choose to transfuse at higher levels, especially if their retic low is lower than they would like. (Meaning that it doesn't appear that their bone marrow is "ramping up production" to meet the need for new red blood cells.)
I really appreciate you sharing your experience. I hear that the group you take your children to is terrific.
- By cemebel7
- Posted November 13, 2009 at 10:43 pm
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My daughter was diagnosed at a little over 2. After she was diagnosed we then had our other children tested and my 11 year old was found to have it. Really never noticed any problem in him. As for when to transfuse would be in the hands of the doctor. Our hematologist sent my daughter home with a hb of 7 on a friday and said they don't like to transfuse unless they have to and they start thinking of doing it around a hb of 6 but only if blood work shows it is needed. This doctor is at the hematology/oncology clinic at Children's Hospital in Detroit. She has been down to 7 a few times possibly lower at times and has yet to be transfused
- By JMsMomma
- Posted November 12, 2009 at 7:53 pm
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Hello All - New to the group tonight with a specific question.
My son is almost 7 years old, dx'd with spherocytosis 5 years ago.
His hemoglobin has averaged about 8, with rises and falls as you would expect. Our pediatricians have told us that a transfusion wasn't needed unless it went down to 7.
Our hematologists just scolded us a bit for allowing the pediatricians to "make the transfusion call" because they feel that children have a higher threshold than 7 for needing transfusions to keep them healthy. They felt that it was reasonable to tranfuse a sphero child at 8, depending on his symptoms.
Can you let us know what you (or your child) have experienced in this area? Where have your hemoglobin levels been when (or your child) were transfused?
So grateful to have an experienced group of people to talk to; Thanks!
- By Duracell
- Posted November 3, 2009 at 7:06 am
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I had some bloods back. Is 12umol/L high for billrubin? Doctor has put me on thyroxine for an underactive thyroid, few if any spherocytes found. Also looking at a sleep study but as of yet not even discussed gallstones, spleen/liver function.
- By Duracell
- Posted October 29, 2009 at 9:55 am
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Yeah I had a spell of really bad back pain at the start of the year and was advised (by the doctor who later then missed my high bilirubin level) it was purely muscular, and was advised to take painkillers for it which seemed to make it far worse. I stopped taking the painkillers and the pain went away. When the headaches cam on around May time I took painkillers and the back pain came back, so now I just suffer the headaches rather than do anything about it.
- By k2k9
- Posted October 29, 2009 at 9:41 am
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I get that too! I have had severe lower back pain for years. The numbness and tingling and also the headaches. I've had the headaches since I was 10.
Interesting.
- By Duracell
- Posted October 28, 2009 at 9:36 am
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k2k9 hope you get the results soon. On your other point, I sometimes get really bad paralysis in the morning, but rarely, more likely I wriggle in my sleep so put it down to that. More often I get deep lower back pain, tingles in my feet and transient headaches that come and go but can be dull for the whole day or attack me for about 20 minutes then fade.
As of today I've been waiting 2 months to speak to someone about my HS records from when I was 5 years old. So I've no way of linking anything to HS yet.
- By k2k9
- Posted October 28, 2009 at 9:03 am
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Duracell,
With my situation, my primary doc just does the regular ol' blood tests for cholesterol and so forth. She sent me to a hematologist/oncologist because she said she detected hemolysis. The hematologist is the one who did all the various tests and determined I have HS. Osmotic fragility was one of the tests, but the report he had typed up said it was "not ready" and would be done that day. He never got back to me on that. I'm going to send him an email today and just ask him to give it to me for my records. Also, he did the Coombs direct and indirect (aka DAT) and those came back negative. They did Coombs on my blood several times and it always comes back negative.
So, my regular doctor doesn't do the special tests. She does test my hemoglobin and all that every year, and I'm always mildly anemic.
- By Duracell
- Posted October 28, 2009 at 8:18 am
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Do you have to specifically ask for a Osmotic Fragility Test? I've had a few blood tests and the RBC count has been reasonable, but bilirubin levels up. From what I gather thus far light may have something to do with the test and that tubes should be sealed from light, however each test I've had have been with clear tubes, from that I take that they haven't looked at Osmotic Fragility.
It's not that I don't trust doctors it's more a case I feel i have to guide them to do the right things?
The blood tests that i seem to be having are very generalised, ie checking for cholesterol, lipids etc, which are all fine. I'm worried they aren't doing the right tests and doing the best things with the information I'm giving. No wonder I'm not getting anywhere, apparently all these blood tests say there is nothing wrong, but usually at the same time everyday my body just shuts down.
- By k2k9
- Posted October 27, 2009 at 5:06 pm
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Oh, also, do people with HS have chronic pain and neurological problems like I described in my first posting? They've tested me for everything and say all my results are normal. But I'm in constant widespread pain and have all kinds of parasthesias. The only abnormal test is my red blood tests/hemoglobin etc.
I thought I lived in the best part of the U.S. as far as docs and hospitals go, but I guess not!
- By k2k9
- Posted October 27, 2009 at 5:02 pm
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Hi,
Everything I've read on the internet says that Osmotic Fragility Test is not only for HS but also for other hemolytic anemias that have spherocytes (such as Autoimmune Hemolytic Anemia, which is what I think I really have because my blood tests were normal in 1996). I went thru my blood test papers, and the Ostmotic Fragility results were "not ready" the day the report was made. I sent in a request for my full records, and again no results from the Osmotic Fragility Test. There is a thing called "Osmolality, Serum" -- that's not the same thing, is it?
Thanks
- By Blblues_1
- Posted October 27, 2009 at 3:01 pm
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I am an Expert via experience LOL!!! Please feel free to ask whatever you have questions about. I have AWSOME Drs. here!!
- By schester99
- Posted October 26, 2009 at 8:20 am
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k2k9,
My granddaughter is the first in our family to have HS. The hematologist here thinks its very possible it was passed on from my daughter. They are basing this mainly on a history of being anemic during her pregnancy. However they never tested my daughter for it, and said at the time the source wasn't a big factor in treating my granddaughter's condition. I'm sure the fact that she is a Medicaid patient ddidn't help.
Anyhow what I've discovered since my granddaughter's dx of HS - from reading as much as I could get my hands on via internet, and via support groups like this one is that this disorder has varying degrees of severity. And yes like you many are mild and would never even know they have it without the right tests.
In our case my granddaughter was 1st known case of HS; determined by symptoms that required a transfusion at age 3 weeks. This means that my daughter could be the one that gave it to her, either by having it herself or by being a carrier (all the time unknown to us). This also means that IF my daughter has it or is a carrier, she could have gotten it from me.
Neither my daughter or myself have ever been symptomatic. I don't think we've even given docs cause to look for this in our blood work. Every now and then we've been told we were anemic, and docs suggest we take iron supplements and leave it at that.
Looking back I wonder if I have had it and just never knew, of course if I do its likely a very mild case but still I wonder. Things like fatigue, and bad leg cramps when I was a kid, and my mom saying I had yellowish eyes when I was sick as kid- all these things stick out to me and make me wonder. I plan to discuss the possibility with my GP at my next annual exam. I think also for the sake of my other children it would be good to know and maybe even have them tested. They should at least know if they have something that they could possibly pass on to their future children.
I understand that for a TRUE dx of HS the test of all tests is the osmotic fragility test. My daughter will soon be seeing a geneticist to be tested for HS as she is now pregnant again with baby #2 and her OB is taking precautions for her and the baby's sake. If my daughter has it I'm sure they may treat her a little differently than your avg pregnant woman. Even if it is just observing her more frequently or prescribing extra folic acid.
I hope this group is helpful to you in helping you find answers to your questions. Its been helpful to me to find this and other groups like it. Learning from people that actually have this rare condition is so much more helpful than all the info the docs seem to give.
Good luck to you! I hope that soon you will be feeling better and that finally knowing what the problem is will help your docs to keep you feeling at your best.
- By k2k9
- Posted October 25, 2009 at 10:06 am
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Thank you Blblues. They did do the osmotic fragility test. I didn't realize this was the important test for HS. Thanks so much for the information. Muchly appreciated. This has been a total mystery for me all this time. The doctors didn't really explain much. In fact, he said he's probably never have to see me again! LOL. I must have a very mild case then. Thank you again for your help.
- By Blblues_1
- Posted October 25, 2009 at 9:53 am
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There is a TRUE test called the osmotic fragility test. Not sure if this is spelt correctly, just sounded it out. This test is the be all to end all tests. My children take a multivitamin everyday. They are suppose to take folic acid for their anemia. I am going to put them on Pre-K which is a antibotic everyday.
I also had a friend diagnosised at 40+ with this disease. It comes in various degrees. I have it, my sister and ALL 3 of my children have it. My middle one would not have been diagnoised without this blood test. My sister did not find out until she was 27 or so, that is when she had her first child. So it can be that you don't know until later in life. My other 2 children I knew from birth!!!
- By k2k9
- Posted October 24, 2009 at 7:11 pm
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It's great to find a message board that's actually current. I am a 49-year-old female who was dx'd with HS at age 44. I recently located an old blood test, from 1996 when I was 36 years old, and it does not show any abnormalities. Up until age 36, I did not have insurance, and had no blood work. As a child, my mom didn't like bringing us to doctors (back in the 60s, you know? it wasn't done then like it is now with kids). I still have my spleen. No one in my family has a history of HS. My father had his spleen removed in WWII due to an injury sustained in battle. My mother is anemic, but she also has Addison's, Hashimoto's and a couple of other autoimmune problems.
My blood work for the last 9 years consistently shows low RBC, low HCT and low HGB, high MCV, MCH, MCHC, bilirubin and RDW. The hematologist I was sent to 5 years ago said I "definitely" have HS because my blood was 40% spherocytes and my Coombs tests were negative. I have constant fatigue, muscle aches (diagnosed as Fibromyalgia) and neuropathies. When I asked the hematologist if these things could be caused by the HS, he said "NO" and laughed at me.
I recently had my annual blood work done, and it shows my hemoglobin is normal for the first time in 9 years, but all the rest of the results are as I indicated above.
I tend to think that I do NOT have HS, especially given all that I've read about children with HS having so many problems. Yes, I had some sickly-ness as a kid (fainting spells and lack of stamina, mostly). I have never been able to do anything much athletically. Otherwise, I have been pretty good, and I just don't "buy" this diagnosis. A person can also have spherocytosis with Autoimmune Hemolytic Anemia and with Paroxysmal Nocturnal Hemoglobinuria. There are very rare instances of AIHA with a negative Coombs. I think I have AIHA, not HS. Does anyone here have any insight on this at all? Any ideas, suggestions? I am thinking of having a second opinion, but the hematologist I went to 5 years ago is considered the best in my area (central Massachusetts) and a "genius" so it will be hard to convince people that he may be wrong. Any help at all would be greatly appreciated.
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