How Was Your Intermedia Diagnosed?

Hi Emilia

Please ask your Doctor for Hydro Oxy urea, it is a medicine which aids the increase of foetal hb in human bodies.

may be it will suit him. You can also try wheat grass spray.

All the best, feel free to ask anything.

Puja

Hi Emilia,

Are you planning on saving the cord blood of your next child? I'm curious if this is becoming more of a routine recommendation.

Dr Vichinsky is one of the top thalassemia specialists in the world, and his belief that your son is intermedia is well supported by the genetic and physical evidence. His energy level alone, indicates that he is most likely not major. The beta zero mutation has the potential to cause a severe thal major when combined with any moderate to severe mutation of the other beta gene, so it is somewhat fortunate (relatively) that you have a mild mutation, as for now it means that he doesn't need regular transfusions.

The question of whether to transfuse at his Hb levels is not easy as there are many pros and cons. Much depends on his skeletal and physical development and if there is normal development and he maintains his energy level, it may be wise to put off transfusing as long as possible. Regular transfusions will shut down his bone marrow so that the production of what good blood that is now being produced will cease. However, if his develoment is slow and his bones show any abnormality. transfusion will be highly recommended.

I will be very interested in updates on your son and his development and also if he is able to maintain the high HbA and HbF levels as he ages. There is so much that is unknown about thalassemia and the more cases like this are studied the better the chances of developing more specific therapies for individual patients.

Hi Emilia,

I have another question. You mentioned that the father has the beta-zero mutation. Does he have many health issues that would be related to the anemia and is anemia a problem for him?

My wife and I are considering having a child. My wife is Thal Intermdia. Is it better to try to concieve when the Hb is at 11 or 12 after her transfusions or at 8.9, which is what the Hb level is right now. Is there any negative effects on the child at low Hb levels. I know for any pregnant mother the first 12 weeks are the most imporatant.??

Thanks alot.
Bharat

Hello My Name is Ric,

Im 24 years old i was recently feeling week and my condition was deteriorating without any prior syptoms till october 2005 in my life i met a hematologist who did blood work on me my base line hemoglobin was  82 but my condition wa worsening so i was transfused in january, i felt great for 2 weeks and then i deteriorated by the time i got to the center here in montreal my hemoglobin level was at 38 no joke at all, upon doing an ultrasound my spleen which was larger than usual had grown to 36 centimeters and was chewing all my cells up you name it white , red and platlets,  i was hospitalized for 35 days and at the beging was nutropenic for about 20 days i was reciving 2 units of blood per day and there were no increases in my counts  ia major splenectomy was needed but my hemoglobin stayed at about 45 too dangerous to operate finally a liver transplant surgeon  performed the operation with success and no losss of blood  i survived almost certain death because at the time i was febrale and not responding to any antibiotics such as vancomiacin or inpenum and yet i had an unknown infection. after this surgery my hemoglobin began to rise  i am currently taking prenizone daily as an immunosupppressent as my white blood cells have developed auto imune responses to any transfused cells and my hemoglbin today is about 95  this after 1 month from surgery, and no more blood transfusions, they are trying an experimental treatment that is used in oncology called rituxan to suppress my b cells so as not to kill my red blood cells  and it may be a long term cure, i have mild osteopenia, but other than that i have never been ill and guess what i tested negative for any thal traits on numerous hemoglobin electrophorese, : up to now they have not been able to cross refernce any documented cases with me and belive the mutation i have is  a-gammma delta beta thalasemmia intermedia, i currently finished 4 tretments of rituxan and now am on  a weekly blood testing session with my great team of doctors who saved my life  please share any info if you know anyone who is using rituxan with thalassemia??? Preety wierd case!!!!! huh!


Ricccardo

up to now they have not been able to cross refernce any documented cases with me and belive the mutation i have is  a-gammma delta beat thalasemmia intermedia, i currently finished 4 tretments of rituxan

Did your doctors have any reasont to suspect thal, besides the enlarged spleen? And, I am not sure whether you meant that your spleen suddenly enlarged, or was enlarged at diagonosis?

I know someone who went through a similar issue like yours, until the doctors figured out that the bone marrow was "suppressed" due to some chemical reaction and it was not thal intermedia at all.

Good luck with your treatment.

Poirot

Yes they found only featal hemoglobin being produced also quite rare 100% hg F and then there two fo my mothers cousins in italy who passed on from what we think was thal major but this was in the 1960 and 1970 , my spleen was large for a while 18-20 cm and then it statred to grow in a month it reached almost 38 cm , pleease include any info on the person you know with this similar condition, and if rituxn was used as well as i am still waiting to see how we will proceed for the rest of my life , ... also my ferritine pre op was about 560- 600 post opp i dont know yet the doctors are more worried about thehg stabalizing , ....Thanks a lot!

Ric

Hi Ric,
Your case is very unusual in that your spleen was destroying all your blood cells. Has any explanation been given why your white cells and platelets were also destroyed? I hope you will keep us updated on any further test results. Also, have you had symptoms of thal throughout your entire life? You mentioned the osteopenia. How long have you had it?

Have you started rituxan yet? Rituxan is a very serious drug that can have severe side effects but patients are often nursed through the side effects of the first treatment and then continued for the full length of the treatment.

This is the website of the company that manufactures rituxan. It gives the side effects and prescribing information.
http://www.gene.com/gene/products/information/oncology/rituxan/insert.jsp

This is a site that has many comments from patients who have used rituxan. You will see that many had a serious reaction to their first treatment but were able to continue.

http://ubb-lls.leukemia-lymphoma.org/ubb/Forum19/HTML/000612.html


Also, to clarify, thal major isn't passed on by one person. The thal gene may have been passed on by your ancestors but it takes two parents carrying the thal gene to produce a major. There is no thal major gene. It is a combination of two genes, one from each parent.

Dear Andy ,

Thanks for all info all is good with rituxan 4 treatments great hb counts and wbc and plt as well, the treatments may be repeated after 6 month absorbtion periode  to what effects are osteopenia is mild and contolable in my case with supplements and intravenous premiterate( sorry not sure the name)  , it is the iv version of Fosamax , and i will get this once a month , subretnal hematomas seem to be healing fine as well , so so far so good , it is the hemolitic anemia that still eludes the reaserch done and will have to wait to see what levels hb stabalize at, as for rituxan contrary to the effects experienced by many i have none at all during any infusions i had, apart from sleepenees and this is due to the benadryle as prevention , the spleen  was found to be reducing all counts in my blood at for no apparent reasons pltlets and rbc were transfused regularly as well as IGG over 15 days no chg in any numbers and i was neutropenic for this period as well.  I currently take 5mg of folic acid daily, im on taper of predizone from 50 mg to now 25mg i decrese 5 mg every week,  for pain i take dilaudid dur to spleenectomy wich was a 42 stich incision  and i take a stomach liner as well(zantac) 


I am glad to have found your site and be able to share info its hard especially after a difficult hospitalization , family and my Fiancee went through bad time just getting back on our feet now thanks for this place i can call home it feels great to talk about this as i have so many questions.


Riccardo

Hello Andy and everybody else,

It has been a long time. There was so much going on around me and my family, so I didn’t have the time to answer your questions regarding my son's development.

So far he’s doing fine. There are no changes on his skeletal and physical development. Well he gains only a pound since last November. I don’t know how normal this can be, but other than that he is full of energy even if his Hb is low. He had a surgery last month his adenoids were removed. We decide to follow Dr. Vichinsky protocol and put him on transfusion protocol for six months starts from this month. The first transfusion following the protocol was on April 11. They give him 2 units of red blood cells and I was surprised because the Hb after the transfusion was 10.3 with 6.9 before that. They were expecting to go up to 12, 13. . I don’t know if this makes any sense, but notes something that I just need to share with you. My son’s blood type is A+. When he is transfused with type A the Hb didn’t go up and it didn’t lose for a long time. When he’s getting type 0 it takes 6 to 7 weeks for the Hb to go below 7 with 11 Hb after the transfusion.

He will have another surgery this Friday his doctor recommended that we have to place a portacath catheter, so they don’t have to poke him every time and he may need another transfusion during the surgery. 

Yes we are planning to have another baby. I just start my In-vitro Fertilization and I’m praying the cycle to be successful.  If we are lucky and blessed with another child yes we are planning to save the cord blood.
 

I have another question. You mentioned that the father has the beta-zero mutation. Does he have many health issues that would be related to the anemia and is anemia a problem for him?

As for my husband yes he’s is having health issues. I don’t know if this is related to his Thalassemia trait or ……. He is having a skin problem, eczema with allergic reaction all his life. No medication for now was found to help his rash and itchiness to go away.

Please feel free to ask me if I have missed out anything.

Thanks a lot,
Emilia

Hi Emilia,

I don't know if the eczema is related to thal, but coincidentally, wheatgrass, a natural product used by many thal patients also has shown some benefit for eczema. Dr Chris Reynolds makes a wheatgrass cream that is used for many skin problems, including eczema. I get eczema around my lips during the cold dry winter months and I have been using the wheatgrass cream for a couple years during flare ups and the redness and the soreness, especially, are noticeably reduced. I also use it on dry skin and it seems to lessen the itching and speed up healing. I also use the wheatgrass extact daily, and my skin overall has become less dry. The wheatgrassactive website is at http://www.wheatgrassprofessional.info/default.htm
There are many articles about the uses of wheatgrass. The products can be purchased at http://shop.drwheatgrass.com.au/index.php?main_page=products_all

  I am a 33 guy from Singapore. 

My mother is a Thal minor (ancestors from Indonesia and Malacca) and my father is a Thal carrier (ancestors from Malacca and China).  I am an only child as a result of the risk that my parents face if they had more children.  A few of my cousins from my mother's side are Thal minors. 

I was diagnosed as HbE Thal Maj when I was 3 years old when I was admitted to hospital with bad diarrhoea.  However, it was only in the last 10 years that the diagnosis was changed to Thal Int (I think due to the better understanding of the disease). 

My Hb levels hover around 8 - 9.  I can't remember my ferretin levels but my liver function test always turn out fine.  I go for check-ups once a year. 

My facial feature resemble that of a Thal Maj.  High cheekbones - protruding jaw.  The whites of my eyes are always yellowish (high bilirubin count) and I am perpetually green in the face (jaundiced).  I am 1.7 m.   

When I was called up for the national service, the medical officer exempted me saying that he did not want the public to think that they have been ill-treating me  Another medical officer said that he did not want me fainting around in the office . 

I've never been transfused.  Although my spleen is enlarged, it is still there!  X-rays have found extra cells behind my lungs (the size of oranges) which help me produce more red blood cells in my body (extra-medullary haemopoesis) which ordinary doctors thought were cancer cells!  My gall bladder was removed when I was 16 as a result of deposits due to the fast breakdown of the red blood cells.  My bones are fragile (broke both my arms 3 times in my life).  At 30, I had a liver abscess which again the surgeons blamed on Thalassemia (weak constitution).  I now have a high uric acid level, leading to gout, which again was blamed on Thal. My body is perpetually warm and I need a fan blowing at me even during winter.  

I have been prescribed folic acid and vitamin C my whole life.  About 3 years ago, a new haematologist prescribed oral chelation for me (Desferral).  I took 6 tablets a day (at a cost of SGD600 a month!).  The drug made me nauseous  and made me listless during work hours.  I stopped taking it myself.   

I lead quite an active life and used to play badminton until gout set in.  I have backpacked Italy alone and travel very often.  I run my own company with 6 staff in a very difficult and stressful line.  My days are filled with meetings and out of office work and my evenings and weekends are spent doing volunteer work at church and 5 other organisations.  There are just so many things to do in this world  that I am still single.       

I do not agree with the termination of life as an option given to parents carrying Thal major babies.  If my parents had chosen to abort, I would not be here today.     

I just thank the Lord for giving me a new day every day and will take each associated problem as they come along.

Hi Colin,

You are saying these last few lines just because you are intermedia, not getting transfused and you live a better life than the people in the developing countries like Pakistain/India etc.

Here we are not considered as hard working or even marriage material. When a child is diagnosed Thal. Maj. all the parents here can think of is the survival of the child rather than living a normal.

It is a harsh but true fact for the poor people.

I do not agree with the termination of life as an option given to parents carrying Thal major babies.  If my parents had chosen to abort, I would not be here today.

Colin,

To agree or NOT to terminate is the decision of the family. A lot of factor's go in when they are this situation and there can be a lot of opinions on it with varying thoughts.

But, if the pre-natal test shows the baby carrying Thal(Major) - the parents at least have the option of saving the cord blood when the baby is delivered and can get the transplant done. But, I think that would be costly for people who cannot afford it

Another thing is that I do NOT think a lot of Thal(Minor) parent's know they are Thal(Minor) until they have a Thal(Major) child. Infact,there are cases when they have never heard the word Thalassemia. But, now due to a lot of organisations trying to spread the word and due to technologies - it might change

-Narendra

Another thing is that I do NOT think a lot of Thal(Minor) parent's know they are Thal(Minor) until they have a Thal(Major) child. Infact,there are cases when they have never heard the word Thalassemia. But, now due to a lot of organisations trying to spread the word and due to technologies - it might change

-Narendra

That's exactly my case. About 30 years ago my parents lost my elder brother just because even the doctors didn't had heard about Thal. and diagnosed him improperly. I was lucky to have moved to Saudi Arab where they diagnosed me Thal. and my parents decided not to have any more babies. Had I been in Pakistan 25 years ago; I would have had the same fate as my bro. and my parents would have again tried to get a baby after me.