How Was Your Intermedia Diagnosed?

The classification of thalassemia intermedia has a somewhat vague defintion that has changed over the years and continues to change. I have seen defintions that say it is a two gene thal and others say it can include one gene thal. The symptoms also cover a wide range. Mostly, it seems that the defintion is based on one's condition as a child, and that condition can change dramatically over time as one ages. As adults, some intermedias transfuse and chelate at or close to the same rate as majors. Some never need to transfuse.

I would like to see what you have to say about how you were diagnosed as an intermedia, at what age, and if you have transfused, and if so, how often do you transfuse? Also, for intermedias who chelate, have any of you had to use an iron chelator like desferal, even though you have never transfused?
When you were diagnosed, what was the diagnosis based on? Do you know what factors or criteria were used to determine that you were intermedia?

I know it's a lot of questions, but if you can answer any or all of them, it would be a great help to those who are trying to determine what their own classification of thal is.

Hi,

My son was diagnosed with Thal Intermedia last summer when he as 10 years old.  I knew I had the trait, and my husband tested negative for the trait before we had any children.  My son's hemoglobin level normally stays in the high 8's/low 9's.  During a bout of strep throat his hg level droped into the 7's and was sent to a Hematologist.  After many, many tests he was determined to have a blood mutation.  This mutation is not found in either myself or my husband.  The Hematologist checks my son's hg levels every 2-3 months and checks his spleen size.  He was concerned about abnormal facial bone growth but after a skull x-ray determined that he is doing ok.

Hi,
You said your son has a mutation. Did they tell you what it is? I would definitely like to know more about this. Doctors label people intermedia but I would like to know on what basis. The classification seems to be one they say when they're stumped. Did the doctors explain how your son can have a mutation that neither parents has?

The doctor could not identify the mutation where the tests were taken, at Schneider's Children's Hospital on Long Island.  He took blood samples from the four of us, Myself, my husband, my son and my younger daughter and sent them to the Mayo Clinic.  It came back identified as "Lufkin".  He did not offer an answer as to how my son has this mutation.  Considering that we thought we took the right precautions by having my husband tested before we even thought about having children, I still can't believe it.

This is exactly why I asked people to post about intermedia. There is so much confusion about what it is. I've never heard of Lufkin before.
We have had some recent discussions in our former site about one gene intermedia and many other gene combinations have symptoms simillar to intermedia. Thanks for your responses and if there is anything else you can tell us, we would appreciate it.

My wife (26 years) was diagnosed with Thal Intermidia about 5 years ago. She has had a splenectomy which did not improve her Hb level. She has had to to have few blood transfusions but it seems that the frenquency is now increasing. She is trying wheatgrass and I will keep this site posted of the results.

She was treated with Hydroxy Urea and her Hb went up by 1.5. Her doctor in India discontinued it after her nails started to turn bluish. Her doctor in the USA has started asking her to take the HU again and she has not had any side effects for the last several months.

We are planning to have a child. I was tested negative for Thal. Can anyone tell us the risks or experiences of having a child when the mother is Thal Intermedia.?. What are the chances that our child will become Thal major or Intermedia.?

Thank you all.

Hi Bharat,
Has all possibility of you carrying any thalassemia mutation been ruled out? Have you also been tested for other non thal varaitons, like the lepore trait or Hemoglobin E? If none of these are a possibility and only the mother carries the trait, your child cannot be a major. Both parents have to be a carrier to be a major. Your child would have one thal Hb gene and one regular Hb gene, making the child a minor, the same as when a major has a child with a non carrier. And most of the moms in this group who are majors will tell you their kids are normal minors.
 However, if you read the recent posts in this thread by MicheleKH you will see a different story. This is similar to what we heard from Barry at our previous site. 

http://groups.msn.com/ThalassemiaPatientsandFriends/general.msnw?action=get_message&mview=1&ID_Message=3394

And this is why the defintion of intermedia is so vague. They tell us about intermedias who have only one thal gene. Cicci recently told us that the doctors said his daughter could be an intermedia like he is, even though the mom is not a carrier. If a person with only one thal gene can be an intermedia and require transfuions, then our definitions need serious revision. I think the problem lies in that the condition is relative to the extent of mutation on the gene and also in the cases where the thal gene is a dominant gene, as marientina brought up.

This has also been in our old discussions concerning the varying severity of minor. Some people are very much worse off than others who supposedly have the same condition. I think widespread studies on the actual severity of the gene mutation in thals would be very helpful in understanding the these wide variations. Is it possible to know through genetic tests how severe the variation is in one's genes and counsel prospective parents accordingly?

I think most people will tell you that your child will be a minor. These other cases happen, but are not typical. Does anyone know if it is possible and also accessible for people to have gene testing done for thal genes? It seems that this knowledge could be useful in many ways.

I think some of the moms out there can tell you about their pregnancies and what is required as far as transfusions and chelation.

Michele,
Did they tell you anything else about the mutation and what its effects are? Is it something that's working in conjunction with the thal gene to cause intermedia? The only reference I could find to lufkin is that there is a Doctor Lufkin at the Mayo clinic. Perhaps it's something he has worked on. It doesn't seem like it can be the thal gene alone that is causing this since you aren't intermedia or major yourself. Some other traits like HbE and lepore when combined with one thal gene can cause an intermedia or worse condition. It may be something along this line that affects your son.

I do think that with the rarity of what your son has, that you did do all you could in advance of having children.

Andy/Danielle

Thanks for the reply. I will make sure our doctors do the required tests before we embark on the journey to having a child. One goes through so many emotions and we have so many moral questions enough to drive us insane. My insurance company is Kaiser and they have great doctors but thalassemia is still not known to so many health professionals. I once called the nurse to ask what my wife could take for itching, probably because of the bilirubin. She said she didn't know what Thlassemia was and had to ask the doctor.

So sites like these help everyone come together and give each other strength, hope and encouragement.

Thanks again
Bharat

Hi Andy,

From what I understand about my son's condition, it is the thal gene in conjunction with the blood mutation that causes his condition.  His mutation of Lufkin is very rare, in fact I think only a couple of people have been found to have it.  And since it was not passed on by either parent, it seems to be a spontaneous mutation.  Mutations have to start somewhere, I guess.  The doctor called his anemia a hemolytic anemia, meaning that the blood cells die early.  This causes his bone marrow to constantly work hard to keep up with producing new blood cells.  His diagnosis of Thalassemia Intermedia seems to be more of a clinical diagnosis based on the affects.  The doctor said even though he's never seen this before, he knows how to follow and monitor blood disorders of this nature and so he is continually checking his blood counts, his spleen, his gall bladder and growth.  I hope and pray that my son continues to do well with his condition without the need for hypertransfusions.

Many thanks to you and Danielle for this great website.

Hi Michele,

There is a good defintion of Hemolytic anemia at

http://www.nlm.nih.gov/medlineplus/ency/article/000571.htm

"Hemolytic anemia is a condition of an inadequate number of circulating red blood cells (anemia) caused by premature destruction of red blood cells. There are a number of specific types of hemolytic anemia, which are described individually....Hemolytic anemia occurs when the bone marrow is unable to compensate for premature destruction of red blood cells by increasing their production. When the marrow is able to compensate, anemia does not occur.

There are many types of hemolytic anemia, which are classified by the location of the defect. The defect may be in the red blood cell itself (intrinsic factor), or outside the red blood cell (extrinsic factor).

Causes of hemolytic anemia include infection, certain medications, autoimmune disorders, and inherited disorders. Types of hemolytic anemia include:

    * Sickle-cell anemia
    * Paroxysmal nocturnal hemoglobinuria
    * Hemoglobin SC disease
    * Hemolytic anemia due to G6PD deficiency
    * Hereditary elliptocytosis
    * Hereditary spherocytosis
    * Hereditary ovalocytosis
    * Idiopathic autoimmune hemolytic anemia
    * Non-immune hemolytic anemia caused by chemical or physical agents
    * Secondary immune hemolytic anemia
    * Thalassemia"


As you see, thalassemia is also one of the causes. This may present a need for monitoring actual iron levels in his body. Some types of hemolytic anemia can greatly reduce iron stores in the body, but normally those who carry the thal trait are advised against taking iron, as it wll not improve the red blood cell count and can lead to iron levels that aren't healthy. Has your son's blood ferritin been tested? Some types of hemolytic anemia can cause drastic drops in iron levels, and iron supplelmentation would be needed. However, iron should never be taken unless the level is actaully known to be low and a since a complete blood count won't tell you the iron level, a serum ferritin test will give you some idea of his levels. A universal recommendation is taking folic acid supplements. It does help to increase the volume of red blood cells and is routinely recommended for treating all forms of thalassemia and many other anemias.

I commend your doctors on the diagnosis and the care. It does sound like all the right things are being monitored and it does have the potential to be similar to intermedia. Your doctor is wise to treat it as so.

Hi All

My son was 2.5 years old when we found out that he has Thal Intermedia. Looking back i feel that symptoms had begun surfacing after  he turned 1.5 years but we could not get comprehend. The symptoms started like I noticed when he was fully potty trained at 2 I noticed his urine to be very darkcoloured. However in S'pore Docs kept on testing his urine and terming it normal. He also had a flu when he was 2 years and three months old,  for which he was given Amoxycyclin and after which his eyes remained swollen for more than 2 weeks. He started looking jaundiced, but doc's still were not able to diagnose anything. His eyes were also showing yellowish tinge. He suddenly started looking thin. We were never advised to take a blood test when he was in S'pore, so i took him to India and there was a random hb test run. The report revealed everything. His hb was 4.5 and all the other level's were abnormal.

 He was rushed to Dr Marwaha in PGI Mer, Chandigarh, who immediately started him on folic acid. His blood sample was taken as we were told it could be either  herditiary Spherocytosis or G6PD. He was also tested for  Osmotic fragility test. All teh above were ruled out. After 2 days my hubby's and my blood sample was taken. My husband had a very common beta thal trait, however I was diagnosed as normal and everybody was intrigued at my test results showing normal. Doctor ordered DNA test's for all the 3 off us. Even AIHA was also ruled out. Iron or Nutiritional defficency was ruled out. So when all options were ruled out only one possibility was left that he had Thal. However as  I had tested negative to the trait,   we all were optimistic that it might not be the case and could be some simple thing like malnutrition(we were kidding ourselves). Our blood was in process of electrophoresis  as it takes 15 days for results, again my hubby's tests came positive confirming that he is Beta Thal carrier with raised Adult hb abt 6.0. My son's foetal HB was at 36.8% confirming he  could be Thal  Inter, but my blood electrophoresis report  was again normal.  Doctors' knew there and then it was Thal, but they wanted us to keep our  hopes up  for DNA report. DNA confirmed it all. My hubby had the beta IVSI nt 5(g-c) mutation and I had CAP+1 SITE (A/C) & ALPHA mutation [PCR(SSM)] 3.7kb single gene deletion. My son took it all.  His genotyping for  XMN1 polymorphism showed that he is Homozygous negative(till date  i dont understnad the significance of this test).

My son was,  started on Hydrooxy urea after that and folic acid. After 6 months wheat grass theory came along and we started on wheat grass capsules. However after trying capsules and tablets we tried the spray and are satisfied with it. he took one transfusion abt 1.5 years back and his hb normally hovers around 7.5 and 8.

This is the story of my sons thalassemia intermedia diagnosis and yes it is a lot to do with clinical investigations as Dr Marwaha's used to monitor him every one month, then it changed to 2 months and now we take him for a blood test every 3 months with regular growth monitoring and spleen and liver.

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

 

Hi Poo Gill

Thank you for sharing your story with us. My wife was diagnosed with Thal Intermedia at 22 years of age. We were worried but after the splenectomy and treatment she is feeling much better. Can you tell us what what grass spray you used and how it may have helped your son.

Thank you.

Hi Bharat

Wheat Grass Spray is from Australia. I found it from our old sight. I was initally using capsules from GNC, Singapore then shifted to wheat grass tablest made in Pune, India. However I felt the spray is much better in terms of ease of use and also the scientific theory behind why spray is more effective as compared to capsules and tablets is that the spray straight away dissolves itself in the bloodstream thru saliva and acts faster, so its potency is not lost in the Gut. Anyway i tried it and my 6 year old son seems to enjoy taking it now.

You can find more info on
info@wheatgrassactive.com

www.wheatgrassactive.com

You can even write to Dr Chris Reynolds  drchris@wheatgrassactive.com, he is really prompt in replying.
Dr. Chris Reynolds.
Director.
WheatgrassActive
Level 2, 55 Swanston St.
Melbourne.
Victoria. 3000.
Australia.
T: +61 3 9650 7728
F: +61 3 9654 9828
info@wheatgrassactive.com
www.wheatgrassactive.com

 

My name is Emilia mother of 24 months old son who is diagnosed with Beta Thalassemia. We don't know yet its Major vs. Intermedia. No body can tell us the exact diagnose. To make the long story short My son Kristian is invitro baby diagnosed with Beta Thalassemia Major last September in Bulgaria when we was on vacation. At the time he was 16 months old. The first transfusion was in Bulgaria. When we came back from Bulgaria we did all the testing in the USA.


The DNA shows that he has inherited both the beta-zero mutation from his father and the variation (probably mild thalassemia mutation) that I have on one of my Beta Globin Genes. The b-Globin Gene Sequencing shows that we are heterozygous for C->A Substitution at nucleotide 478 of a second Intron, (IVS-2, 478 C->A) that is very unique and it wasn’t reported yet in the history.

Kristian’s has about twice the typical amount of adult hemoglobin (Hb A) that is seen most individuals with Intermedia. Since all the Hb A he has is made by the gene he inherited from me, this finding lends support to the idea that this is a mild Beta Thalassemia mutation.

Given his high level of Hb A and Hb F relative to the typical individual with Beta Thalassemia Intermedia. Based on these relatively high levels, it is unusual that his total Hb levels drops as it does.
He had 5 transfusions since last September. The lowest Hb lever he has is 6.8.
The unusual is that he is never tired. He is full of energy even if Hb level is at 6.8. The only think is that he lost his appetite and if I frost him to eat he starts vomiting.

We met Dr Vichensky at Children’s Hospital in Oakland last month and he sounds very sure that Kristian’s have Thalassemia Intermedia. He had two suggestions ether to put him on regular Blood transfusion protocol for 6 months or leave him and watch how low his Hb level will drop.

We haven’t decided yet what to do and what the best way is for him. He still has his transfusions when his Hb level drops below 7. His Feritini level right now is 475 which is far from chelation therapy.

In the mean time we are planning to have another invitro with PGD (Preimplantation Genetic Diagnosis.  If we are lucky to have another child and if there is HLA much which will give a great hope that Kristian might live a normal life. Don’t take me wrong we don’t have a child only for a donor. We want to have a healthy child that is not affected by the Thalassemia.

Well this is my story. Please feel free to ask me if you have any questions.

Thank you all.