How Was Your Intermedia Diagnosed?

Hi everyone ,

Wow, thank you all for your support it is amazing how much it helps. I am now in contact with another family here in Arizona who have a child with Thal major and they are very helpful as well.

Thank you 
Kathleen

Kathleen:

I was diagnosed beta thal intermedia when I was a child and my hemoglobin levels were about 6 but I was never transfused. This was in the 60s. However, when I was sixteen (1970) I had my spleen removed due to hypersplenism. Since then I have had post-splenism sepsis three times and pneumonia once. Last fall when I had pneumonia, my white cell count was over 80,000.  I have also had the other classic thal issues: blood clots, leg ulcers, gall stones, iron overload, etc. It is only by the grace of God that I survived these illinesses.

I have read that now doctors prefer to transfuse to keep the hemoglobin levels higher to slow down or eliminate hypersplenism. Or if the new therapies can keep her levels high enough to eliminate hypersplenism. I would definitely get a second opinion.

If you have not been in contact with the folks at the Cooley's Anemia Foundation, please contact them for help in finding someone that can treat your child(ren). Eva Chin (www.cooleysanemia.org or you can email them at info@cooleysanemia.org) can help you find a doctor and can help you get a book called "About Thalassameia". This book has great information about this disease.

I am 52 now and I must say for the most part I live a "normal" life, if thals can be considered normal. In July, I purchased a 1999 Harley Davidson Electra-Glide Classic with only 4,340 miles on it and have planned an eight day road trip from Ohio through West Virginia, Virginia, Washington DC, Pennsylvania and back to Ohio.

I think the most important thing for your child is to find someone you understands her condition and give her the treatment that she needs. If it is possible to treat her early, this may eliminate some of the issues that she might face later in life. There is so much support out there today compared to 1960s use it to your advantage.

Ciao!

Barry

Hello and thank you for your post....

I wanted to let you know that on friday my family and I were invited to what I believe to be the first Cooley's Anemia meeting here in Phoenix Arizona. Gina Cioffi was there and she was great. She was able to provide us with alot of informaiton. Most of which was new to us being that we are just begining to go throught this. It was so nice to meet people here and hear their stories. It does worry my family that the Drs we have here may not be as informed as other drs in other states where there are more people with Thal. All of the families there have suggested that we go to Oakland to see Dr. Vinchinsky.(which we are looking into). Olivia has another appointment on Wed of this week. We are hopeful that her hgb has improved even more. She looks great so full of energy and the color in her face in nice and pink.

Thank you for you posts and your support.
Kathleen

I agree that a consultation with Dr Vichinsky would be worthwhile. The Oakland Children's Hospital has one of the top thalassemia centers in the world and offers a comprehensive care program for thals that addresses all the physical and emotional issues that arise. Perhaps some cooperation between Oakland CH and your local center can be arranged.

Please do take heart in the fact that your child is improving since you sought further care. And also, the new involverment of the Cooley's Anemia Foundation in Phoenix is a major positive for you.

All in all, things are looking very positive for Olivia. 

Hi,

I am thal inter. Delta beta. The delta is what makes me a thal inter. I was diagnosed at the age of 4 by Dr. Bernadette Modell in London. My diagnosis itself is another story. There were no indications of thal or any other illness, but it seems my nails were not as pink as the rest of the kids, so my parents took me to the doc and then Dr. Modell and the rest is history (BTW I am the only child to my parents and even my little finger's nail matters)  :smile2. When diagnosed my Hb was 7.8, so I got transfused. My trans varies from 45 days to 2 months or more depends on the count. Never goes below 8.0. I had a spleenectomy in CHU, Lausanne, Switzerland.

If you have seen my pic, you will see I have no feature that indicates thal. My height and weight are normal and my build is good. I am a strong kid  . Now of course, thanks to my freaky cricket, things are not so good, but it is picking up. I am walking on my own and have got back to work. Earlier I used to go to the gym but that's out. The ortho said I could use the treadmilll after a year. I rarely feel tired but I need a lot of air. I get claustrophobic in crowds. Hematos put it down to thal. I am not so sure, even my mom gets claustro in crowds.

I hope things remain the same for me and I get back to my normal, energetic self.

Peace and health to all!

Regards,
Namitha

I am posting my baby snaps so you know how I was as a baby.

Hi everyone,
 
I just wanted to give and update regarding Olivia....1st though I don't think I mentioned that Christine and I are 1st cousins (Lauryn"s Mom) I was whith her yesterday when she was told that Lauryn would need her 1st transfusion very soon. I have to say i was very proud of Christine and how she handled herself. I do talk to her and try to help keep her positive. Also I am so happy that we went to Phoenix Childrens' Hospital. We meet with Dr. Terry Wood. He has 5 Thal Major patients that he treats where as our old Dr. didn't have any. He does communicate with Dr. Vinchinsky and he recommended that we do see him at least once a year and we are planning to do so.
I told Dr. Wood that Olivia was on Hydroxyurea for 8 1/2 weeks and Folic acid and he didn't know too much about the drug and we were talking about maybe taking her off and transfusing her if her Hb didn't raise any more. Well now for the good news......Olivia's Hb was a 9.0 it has not been this since she was 12 months old !!!!!!!!!  So we are going to keep her on the medicine and Dr. wood will test her again in 2 weeks. This is so hopeful for us! We still live life day by day, however, this means no transfusions right now and thats all that we prayed for.
 
Thank you all again for you support and information
Love Kathleen

Hello Kathleen,

That's a great news! Hydroxyurea is working slowly on Olivia. I just wish it could raise and maintain HB up to at least 10-13g/dl because 9g/dl isn't that good for a growing kid, but on the bright side it is not low either that transfusion is mandatory; but a TransX could help a lot.

Take care, Peace!

Hi everyone.....

I hope everyone is doing well!
I wanted to give you all an update regarding Olivia.....her Hb was 9.2 today and this is up from 2 weeks ago when she was at a 9.0. She does have a cold, however she looks so good...where as in the past she would look terrible. She gained 1 lb and a 1/2 and is now 29 lbs. She has gained a total of 9 lbs this year!  Her dr. is checking her liver enzymes( b/c the hydroxyurea could increase the level), ferritin and her fetal hb level. Her dr. wants to keep her on the hydroxyurea for 1 year and then take her off for a short time to see how she maintains. I want to find out if this is even possible... can she maintain without the meds? I am going to e-mail Dr. Singer to see what she has to say about this.  I will let you know.
Love Kathleen

Hi everyone....


I hope everyone is doing well. Just something positive that I would like to share with you all. Olivia has been sick ( we all have been). Normally this would mean she would be pale, very tired and then a trip to the doctors and a long recovery. This time she is feeling much better sooner, she is not pale, still very active and most of all no trip to the doctors. We are so happy....this is all since she is on the Hydroxyurea. We also had her liver enzymes checked and they are fine and her ferritin level was 196. The medication has not had any negative effects on her to date, it has been good all around.

Our prayers to all
Love kathleen

PS....Christine .....Cute pic of Lauryn.....she looks just like Anthony

Hello Andy,

This is a really good site for info,

My grandsons were diagnosed recently with Hemoglobin H disease which was a big shock to the family because here in Cyprus people who get married have blood tests to see what type they have and to see if the children they may have could be affected and how. My daughter and husband were told their children would be aneamic but nothing more as my daughter has Alpha minor and her husband has Beta. We dont understand what happened as this according to the doctors shouldnt be. My husband is cypriot and has Alpha trait which he didnt know about until our daughter was diagnosed in her teens, I am english so didnt have any knowledge of this. We came to live in cyprus and it was diagnosed here. What I am shocked about is when the children were born nobody thought it neccesary to check the childrens blood to see what trait they had. My one grandson is 5yrs and weve only just found out. His spleen is enlarged and has been tired and yellow looking this is how we found out with a routine blood test. The other one is 7mths and had feeding problems and water infections and again routine blood test revealed he had low hemoglobin. They both had electrophosis test and they have come up with Hemoglobin H. I dont know if this condition is intermedia or not as its all new to me. They will be attending the Thalassemic clinic in Nicosia when they come back from the UK. They have gone to the UK because the baby has been diagnosed with Plagiocephaly and was born with it and they are getting treatment there. I read about bone deformity and am now wondering if this is connected in any way. They found out about the hemoglobin H the day before they were going to the UK so my daughter doesnt really have any real understanding of this conditon with their blood.

If you have any advise or info for me to pass on to my daughter it would be much appriciated. I will have to wait for them to come back to see the clinic to see what treatment they will have.

Keep up the good work, you sound like a very caring person.

Leandra

Hi Leandra,

Hemoglobin H disease is perhaps misnamed and is actually 3-gene deleted Alpha thalassemia. For your grandchildren to have HbH it requires alpha thal genes from both parents. Your son-in-law is definitely an alpha carrier if the children are HbH. HbH is compared to beta thal intermedia in its effects. It can range from mild to moderate anemia all the way to transfusion dependent thalassemia. If the more serious Constant Spring gene is one of the genes, the symptoms are usually worse.

The combination with beta thal genes supposedly has no effect as there are two completely different sets of genes at work. However, and I will say this is a BIG however, what the medical experts tell us and what people experience in real life are often different things. The same experts that will tell you that alpha and beta combined will be no problem will also most likely tell you that beta thal minor is not a problem and has no symptoms other than mild anemia. The countless stories we have heard from minors tell another story. One gene beta thals range from no symptoms to to transfusion dependent intermedia. It may be the case with your grandchildren that both alpha and beta thal are causing problems. Even though the two gene groups have nothing to do with each other and don't affect each other, their cumulative effect may be more than current research has demonstrated. Even though there are more alpha carriers than beta carriers, alpha has not been as rigorously studied as beta, due to the fact that beta major is such a severe problem and alpha major results in death before or at birth and little possibility of hope has been held, although in recent years some babies have been saved by in utero transfusions.

I do believe that the combination of both alpha and beta thal can have a cumulative effect in some patients. I would suggest further testing to either rule our or confirm Hb Constant Spring disease and also if possible, to determine the extent of the mutation or deletion of the beta gene. Folic acid is mandatory and iron supplements are strongly discouraged. They will do absolutely nothing for the patients and will cause extensive harm if continued over time. Vitamin E is also higly recommended.

Plagiocephaly may indeed be related to thalassemia.

From http://www.emedicine.com/neuro/topic80.htm

    * Secondary craniosynostosis (plagiocephaly) typically results from systemic disorders such as the following:

        ... Hematologic disorders that cause bone marrow hyperplasia (eg, sickle cell disease, thalassemia)

If this is the cause, transfusions may be necessary to prevent further deformity, as in secondary plagiocephaly, the underlying cause needs to be addressed.

Alpha thalassemia can present a variety of problems depending on the severity. DNA testing is higly recommended to determine exactly what is at work here. There can be major differences between HbH and HbH Constant Spring and it must be determined which it is. I would also suggest DNA testing of the beta thal gene to determine the severity of the mutation.

Hey Kathleen,
Glad to hear that Olivia is doing better.  I am also very glad to see that you are seeing Dr.  Terry Wood at PCH.  He was the hematologist that took care of all three of us intermedias in my family, back in the 1970's.  He was great at taking care of us until we turned the ripe old age of 18.  So, to hear that he is taking care of Olivia is a great thing.  We are working on putting together the chapter here in AZ, but unfortunately, my brother Dom, has had a hemolytic crisis and is still trying to recuperate.  We will keep you posted.  If anyone else wants to help head up the chapter at this time, he would love the assistance. 
Hope to see the rest of our thal friends soon here in AZ.
God Bless
Mrs. T

I honestly don't know if my post belongs here, but I'll post my information anyway and add it to the little database. 

I have Hemoglobin H Disease, an intermediate form of alpha thalassemia.

My Hg counts have always been at a steady 7 point something, though I believe when I was first diagnosed, I was closer to 8.

I got diagnosed with HgH Disease when I was 12 months old because my mother noticed my feet were looking awfully pale.  The pediatrician, thinking it was the more typical iron-deficiency-related anemia, put me on an iron supplement.  When my body stopped absorbing the iron and my condition wasn't improving, my mother went back to the doctor and he ordered for extensive bloodwork to be done because he feared I had leukemia.

The results came back and that's when we found out that I had HgH Disease, which is a persistent state of mostly moderate anemia that can worsen with illness and other strenuous factors.

At the time, transfusions were considered more risky and most patients weren't transfused until their Hg levels dropped to 6.

Because my 7 Hg was supposed to be persistent, I was told that my body would adjust on its own to the lower levels and thus, once adjusted, the 7 range became MY normalcy.

I never did transfusion therapy as a child and only 2-3 years ago at age 22 did I do a trial run with transfusion therapy, which temporarily bumped my Hg to 9.6.

I only did transfusion therapy twice and because of increasing health problems, I've been considering going back on transfusion therapy.

The scare with iron overload has been a big deterant in me considering transfusion therapy, but when I chose to go on a trial run for transfusion therapy, it was because I was dealing with severe depression that wouldn't go away with typical psychiatric care and bouts of frequent and persistent illnesses.

It would seem the older I get, the more marked my thalassemia symptoms have gotten to the point that my hematologist tested me for Constant Spring and my primary care physican ordered a battery of tests including HIV tests to rule out an auto-immune disorder/illness.

The symptoms haven't been so severe lately though the depression still kicks major butt in my life, but to get to this point, I've had to take exceptionally good care of myself and eliminate a lot of stressors.

I never gave transfusion therapy much thought, but now that 4 years have passed and I'm still dealing with severe chronic depression, I'm really considering the option.

Zadkhi,
     Does depression run in your family? You may have a kind of chemical genetic depression. My mother suffered from depression on and off her whole life, and she did not have thal. I don't know if there is a correlation with thal and depression or not. It's an interesting subject.
     I know that I was getting depressed a few years before I started transfusions because I was so chronically ill. hope you can find some relief from it because it is miserable to have. Maybe transfusions would help. Jean

My mother's also encountered bouts of depression, but seemingly not nearly as severe as mine are and were.

According to my psy doc, the depression probably got its roots in me when I was younger and just didn't really 'show itself' until I got super stressed out, sick all the darned time, and was going through one of the roughest spots in my life at the time.

The doctors have been hesitant to treat me typically because they feel my depression might be provoked by the string of chronic illnesses I caught a few years ago.  Only problem with that theory is, I'm not as sick anymore and the depression, while not so terrible, is definitely still here. 

It's really kind of weird and it makes it harder to diagnose and treat properly.

But I HAVE done psychiatric treatments, so I haven't let it go unchecked.  We're just not sure from which avenue to treat it from.