My thalassemia minor findings in India

I am a Male, 42 from India. I was first diagnosed in June 1994 with Beta Thalassemia Intermedia by a hematologist in India. That time I was advised to take only 5mg folic acid tablet per day and nothing else. All siblings and parents were tested and all were thalassemia minor trait.

From 1994 I regularly took folic acid and then occassionally and then very sporadically kept on taking it.

Other health findings in my body by year:
Year 2006 - Gallstones detected
Year 2007 - treated for Lymph Node TB for first 6 months (this was my worst time)
Stomach burning, uncomfortable liver and breathing problems continued. Folic acid continue all 2007 to keep RBCs awake.

Late 2007 I moved to the USA carrying severe problems in me.

Late 2007 - diagnosed hypothyroidism
Late 2007 - diagnosed pernicious anemia
A Levothyroxine and B12 shot (Cyanacobalamin 1000 mcg) was started.
Stomach burns continued and a wrong diagnosis of GERD kept on. Prevacid did not help not did Pantoprazole.
USA diagnosed me with beta thalassemia minor but symptoms of those like intermedia.

Finally a Indian-American doctor conducted a endoscopy and diagnosed H Pylori Late 2008 in USA.
The H Pylori treatment also was heavy for 14 days.
By this time I was not taking daily folic acid but took only B12 shots.
Excessive B12 shots (first 6 weeks and then 11 months) caused my kidneys to get overloaded and have some red acne on my back.
The USA doctors decided to curtail B12 1000 mcg dose to once per quarter with Levothyroxine reaching 88mcg.
My best time on health had begun in 2009-2010 in USA. Folic acid was sproadically taken.

Vit D deficiency was diagnosed and I corrected it with 2000 IU per day gel caps.
Peripheral neuropathy was diagnosed in 2010 as I had numbness on palms. The culprit was suppose to be Isoniazid and Rifampin.

I returned back to India for good in 2012.
And,
For 2013 I took some just four B12 cynacobalamin 500 mcg shots.
For 2014 I took some two shots. Then stopped because of a churlish reason that 'enough is enough and these shots pain'
I also did not take folic acid in 2013, 2014, 2015, 2016 and had forgotten that I must take it occassionally.
I had high Uric acid levels that was left untreated by doctors. (7.49, 8.1, 8.4 levels)
Diagnosed of Angioedema in 2016-2017 allergy due to certain foods like guava, spinach and cauliflower and taro leafs.

Early 2017 (Jan) I started falling ill with shortness of breath, heavy feeling in abdomen, liver, lack of apetite, stiff body.
Feb-2017 was my worst month of frailing health I just could not breathe normally.
A detailed blood test CBC, LFT, Kidney and Urine analysis was done.
i) RBC count low, WBC high, high liver enzymes and high uric acid.
A gastroenterologist was consulted recently.
He asked to me again start Folic Acid and B12, in return he gave some Probiotics. Avil was started to adjust Angioedema
Again tests were conducted.
ii) RBC count up, WBC marginally up, liver enzymes same, TIBC, Iron and Ferritin all normal. (I drink moderate tea)
A febuxostat 40 mg has also been started daily to cure high uric acid.
I also started taking Pyridoxine Hydrochloride 20mg tablet to improve my nerve functions this week. I will stop this after 1 or 2 months.
I still have some combo B12-B9-B3 shots to be taken in coming 4 weeks.
Does B3 in the shots could cause high uric acid in my body? Niacin is good for body but??

Questions:
a) How to get rid of High Uric acid permanantly? Is thalassemia root cause of high uric acid?
b) Should Cyanacobalamin shots be taken or should I go for Methylcobalamin B12?
c) Should my quarterly shots be a combination of B12 + B9 + B6 or should I take only pure B12 or  take B12 + B9?
d) Suggest something for healthy liver. High SGPT(38) High SGOT(43) with high indirect bilirubin of 5.76 is discomfort for me.
e) Should folic acid, B6 be required for a thal patient to be healthy?
f) Is my angioedema facial swelling related to Gilbert's Syndrome or Nephrotic Syndrome?
g) My lowest low of health is everyday after 4PM and remains low till 10PM.
h) Metabolism is very very poor.

Please help with your comments. Its complicated. Sorry for unstructured writing yet I gave all info that I recollect from 23 years.

What is your Hb level and has it stayed stable over the years? Do you have the results of a complete blood count? High uric acid is related to the ineffective erythropoiesis of thalassemia. Gallstones are also related to the high turnover of red blood cells. Have you ever tried milk thistle herb? It is very helpful to the liver and other organs and may help keep the liver function tests normal.

Hi Andy,

My Hb levels over all the past five years have been not so bad.

RBC count 4.31 and Hb is 11.1(Feb-2017 without folic acid consumed in 3 yrs)
RBC count 6.36 and Hb is 11.4(last week after 15 days of 5mg folic acid twice a day)

Even when I felt awkward and hard breathing, my Hb levels were always good.
10-15 yrs back Hb levels used to be 9.6 to 9.8 but these years after the 5 years of B12 shots in USA the Hb levels are good.

My own assessment & observation about my own health in last 3 weeks is:

Chest X-Ray turned normal. Lungs are clear.
A 6-lead ECG 10 days back turned out to be normal. It was taken on a day when I was harping for breath.

1)
my liver is utterly turned poor with high bilirubin.
The direct bilirubin is not very high but it is high.
The indirect bilirubin is quite high due to the ongoing hemolysis.

2) High Uric acid
Some 5 or 6 years back I managed to pass enough urine out of my body
From last 2.5 yrs not enough urine went out. Thats when blood tests showed High Uric acid of 7.49(Nov-2014)
Last week Uric Acid shot to 9. (It could also be because I was on B12 shots that had Nicotinamide?)

3) To some extent gall bladder / gall stones maybe the culprit.
I have been given ursodesoxycholic acid tablets to eradicate any cholestrol stones that maybe causing discomfort.
The same was given exactly 10 yrs back for the same purpose.

4) Shape of the RBCs
I think the shape of the RBCs could have gone awry and could have become oblong/sharp making their movement in arteries difficult.

If a human body has blood circulating that contains high bile and high uric acid, it is bound to obstruct oxygen to body cells?

My health is some 20% to 25% improved to what it was between 22 Feb to 2nd March 2017. It was way bad, I would not have been able to sit, write and type this much.

It means:
The B12 shots + Folic Acid did improve health.
The tablets to reduce the uric acid could be working

However the angioedema features still remain.
The discomfort in abdomen still remains. I still feel muscles tightened in body.
I still feel a bloated stomach daily. One Rabeprazole is being taken daily morning.

I need relief, quick relief from:
liver problems and the breathing problems I encounter every few days.
the myalgia in my chest bones and the muscles around. It is quite painful and noticeable pain on sneeze.
on the feverish feeling on my body that I get from last 3 or 4 weeks. There is no fever but I feel feverish inside.

NOTE: Milk thistle capsules OTC were consumed in 2008-2009 in USA. It did not help me much.

Any update on the above note wherein some more details were shared?

What could be root cause for the myalgia pain in my chest bones / muscles?
Inspite of folic acid consumption from Feb 23, inspite of plenty of B12 shots since Feb 27 why are my palms still looking palish white even today? Is liver not able to store anything?

Could it be that plenty of new RBCs are getting born and plenty are getting dissolved and thus fatigue and uneasiness remains?
How do we stop this?
Has my liver something to do with this? LFT tests are not that bad.
Does kidney has something to do given high uric acid in blood?

Will the uneasiness go away when my uric acid is brought down and Febuxostat tablet is stopped?
And will things improve if Ursodesoxycholic Acid tablet is stopped?

I was hoping good improvements over 35 days of medical treatment but seems only few percent has improved.

I need some guidance on what could be happening and what could be my next steps?

My Situation worsened after consuming Febuxostat and Ursodeoxycholic acid tablets for 17 days.
Heart Pulse 104
Blood Pressure normal
Palms turned more pale than earlier. Then, I stopped taking those tablets.
And,
On 3rd Apr blood tests were conducted. Hb is now down to 9.2 from 11.61 where it was on Mar 9. This is inspite of two B12 shots(methylcobalamin) of 500mcg taken.
TSH turned out 5.7 from 3.2 where it was on Mar 9.
RBC Count went down to 5.1 from 6.36 where it was on Mar 9.

It means things are not working good with those two tablets given to me to reduce uric acid and rid cholestrol gallstones.

Is thalassemia causing trouble to liver?
Or
Is troubled liver causing disturbance to red cells and Hb?
Or
Is underactive thyroid causing such troubles?

What may have been the root cause of Hb falling drastically?

Febuxostat contains sulfur, which once again leads to the possibility of favism. Have you found out if alpha thal mutations were looked for in addition to deletions?

Thanks Andy. No, I did not get a chance to go to the research centre since then to confirm if the alpha gene was "presence" or "deletion" in Southern Blot. I am barely mobile from last 15-20 days with excessive shortness of breath.

Replacing Febuxostat 40mg with Zyloric (Allapurinol 100mg) has not helped me much. Zyloric 100 mg x 3 per day.
If it was 16 continuous days of Febuxostat 40 mg x 2 that caused me immense harm, the Zyloric caused similar discomfort to me within 7th day of taking 3 tablets per day. I reduced it to 2 per day and from now on will take only one per day.

Any allopathy attempt to reduce Uric acid is not working effectively atleast on my 'sensitive' body.
In between if there is a small spontaneous angioedema attack, I consume cetrizine 10mg or Avil 25mg that again makes me drowsy.

Angioedema is something that needs urgent attention along with controlling hemolysis and stabilising my Hb (it was 11.6 on March 9 versus 9.3 on 3rd April). 

I will also get some tests done to rule out auto immune disorders related to Thyroid gland.

Regarding lymph nodes, I had enlarged lymph nodes since 2010 (one evening they suddenly grew like anything) and no medicine worked. I started learning more about it in later 2012-13 and was afraid I might have lymphoma (lymph node cancer). In 2016 with diagnosis of my weak eyes, I started drinking carrot juice daily.

And in few days they shrunk like they didn't exist to begin with! I was like what's causing this, I only changed carrot juice in my diet. On googling I found an experiment of lady who was cured from stage 3/4 lymphoma and tumor by just drinking carrot juice in large quantities daily.

It's an excellent anti-oxidant I then realized. I still drink it daily.

May be you give a shot too. It might cure some of the problems unknowingly lol. It has great properties to fight cancer too and I now recommend it to every thal to drink it (or eat it if you can but drinking enough quantity is recommended).

I have requested the research centre in Mumbai if alpha gene mutation noting was for "presence" or "deletion".
Two of the senior research scientists who conducted are still working there.
I am awaiting their reply.

Allapurinol 100 mg turned to be damaging to me as was the Febuxostat (to reduce my uric acid).
Even after stopping these tablets and taking 10 mg folic acid per day, the hemoglobin did not rise.
SGOT shot up 67.7, uric acid shot 10.0

Anti TPO is 156
Anti Thyroglobulin Antibody & Anti Nuclear Antibodies are normal
Complement C3 is low
Complement C4 is normal but lower side

TSH went shooting high (7.06) from the normal levels where it was on 9 March. This indicates how damaging role the Febuxostat and Allpurinol may have played in the body.

MCV went down 65
Two B12 shots were taken during April and 4 sachets of Vit D3 were taken.
RBC count did not rise inspite of being on folic acid tablets twice a day

EPO (Erythropoetin) is high at 66.9.

Most symptoms remain but are improved these days as I am no longer on the disturbing tablets.

RBC count 4.31 and Hb is 11.1(Feb-2017 without folic acid consumed in 3 yrs)
RBC count 6.36 and Hb is 11.4(last week after 15 days of 5mg folic acid twice a day)

This reads pretty interesting. How can the RBC count change that dramatically without affecting your total Hb? Is this due to there not being enough building blocks for the Hb and therefore an increase in the number of RBCs just leads to more but smaller RBCs, e. g. increased RBC count but decreased MCV?

jsbhavsar, do you have any data on your MCV for those two dates?

sofear:

Refer attached file for blood summary of important parameters.

MCV, Hb data 2017:

22 Feb: 58.4, 11.0
9 Mar: 60.8, 11.4
3 Apr: 64.9, 9.3
27 Apr: 65, 9.0, G6PD is turned positive. G6PD done first time in life.
9 May: Data Awaited and G6PD second confirmation awaited


MCV, Hb data for old dates when health was good:

8 Nov 2014: 62, 10.8
13 Apr 2016: 61.9, 11.5

I have strong suspicion that uric acid tablets Febuxostat and Allapurinol have caused my Hb to fall from 11.4 to 9.3 and now 9.
And, folic acid 5mg tablet twice per day is not working effectively. It means these tablets have taken away receptors in intestine who would convert folic acid to folate and send to bone marrow?

When all concerning tablets like Febuxostat and Allapurinol are stopped by me and, folic acid dose increased, why is Hb not rising, why is RBC count not rising and why is SGOT so high?
Even hematologist is not very sure what is going on inside.

Attached full file of the blood test summary:

G6PD Qualitative test in the hospital lab has turned out to be normal (30 mins), hematologist then said I am not a G6PD case to be considered.

10 days back a photometry test method of my blood sample said G6PD was positive (>20).

I have been prescribed Allapurinol 100mg atleast once a day or alternate day to keep uric acid in control. I am reluctant.
My left leg toe is badly paining since 4 days.

Why the platelets count fell down drastically in last 10 days? No explanation was given to me today.
Why the WBC count shot so high in last 10 days? No explanation was given to me today.
Hematologist said to ignore everything and continue on Folic Acid 5mg as RBC count has come up and so has Hb.

A DNA research lab report from 2001 says that Alpha thalassemia gene mutation is not present in my case.
It is just plain beta thalassemia minor but because of some severe symptoms always visible through liver, I get categorised as beta thalassemia intermedia.

Whether there are other thalassemia patients who have high hemolysis rate and as a result they have high uric acid should be seen.
Moreover, whether there are other thalassemia patients who are able to handle febuxostat and / or Allapurinol drugs should be seen.