Double heterozygous HB E thalessemia, need advise

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Offline ekilucky

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Double heterozygous HB E thalessemia, need advise
« on: April 18, 2014, 09:10:10 AM »
Hi Experts,

me: Thal trait
my partner : Double heterozygous HB E thalesemia
my Daughter: Double heterozygous HB E thalesemia


Current CBC report  of my daughter
mcv:69.5 fl
mch:23.4 pg
mchc: 33.7 g/dl
total wbc: 15700 cumm
hb:10.8 g/dl
paltlet count: 470000 cu/mm
rbc:4.60
hct(pcv):42.0 %
retics: 3.57 %
calcium: 11.3 r (mg %)   Normal (8.3 to 10.4)
uric acid: 2.7 mg % (m4-7mg /dl : s3-9 mg/dl)
phosphorous: 7.7 mg% (normal 2.5 to 4.6)
ldh : 694 u/l (normal 225 to 460)
serritin : 924.6 mg/ml (normal feamle leas than 50 years .. 10 to 290)
creatinine : 0.20 mg% (normal 0.5 to 1.4)

lft
bilirubin : 2.2 mg % (normal 0.5 to 1)
direct : 0.4 mg %
protein total : 6.4 gm % (normal 6 to 8.5)
albumin : 5.1 gm% (normal 3.5 to 5.0)
ast (sgot): 38 u/l (normal 8 to 40)
alt (sgpt): 20 u/l (normal 5 to 35)
alkaline phosphate: 394 u/l

Now doctors confirmed that my daughter is a thal intermediate, and might lead to major . We have to few more tests pending which might confirm that if its really major or intermediate.

Previous history
At age of 4 months she had HB level of 5.4 which increased to 6.3 at 5th month. This level was maintained till age of 7 months.
At 8th month local pediatrics advised for the transfusion. Since then there has been 3 transfusions at an interval of 2 months, even tough the blood level is 6. Doctors advise for transfusion as she does not take food and is in a irritated mood.

As of now we will be observing the below parameters:
1) the spleen and liver size . (should not exceed the normal size)
2) proportional height and weight growth (refer to the immunity chart)
3) kid should be physically active (this tells its normal)
4) the front portion of the head should not bulge out (this tells its normal)
5) the incisor teeth(front teeth) should not grow prominently (this tells its normal)

Need your suggestions on below:
1) Is there a real requirement of transfusion when HB count is 5.4 ? The count drops from 6 to 5.4 when she has infections.I understand the risks of transfusion.
2) What should be the food provided to a 1 year baby of  Double heterozygous HB E thalessemia ? Now she is taking folic acid as prescribed. I read in this forum that beet is good, so I will be giving her that.
3) will a bit of exercise improve the health? Will this not consume more of the oxygen supporting things in body?
4) How does the doctors read the iron level , mch or mcv?
Is there any food habit or natural technique to decrease the iron deposits?
5) At times she gets fever and cold and leads to urine infections. This decrease the HB count. Any way to maintain the immunity?


Thanks for your time and support.
Eki





 
Thanks,
Eki

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #1 on: April 18, 2014, 06:09:09 PM »
Hi Andy,
Can you please find sometime to go through this thread. I understand its lot of questions but need your valuable advices.
Thanks.
Thanks,
Eki

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Offline Andy Battaglia

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #2 on: April 18, 2014, 06:21:22 PM »
Quick question. In the report for your daughter, the Hb is 10.8, but you talk about an Hb below 6. Can you explain?
Andy

All we are saying is give thals a chance.

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #3 on: April 19, 2014, 04:34:38 AM »
Hi Dr.Andy,
Thanks for the response. The report which i gave was after 12 days (April 14th 2014) from the date of 3rd transfusion (April 2nd 2014). Hence HB count is 10.8.
Any other details which I missed to mention, please let me know.

Also, the tests which are pending will reveal whether any mutation has occurred or not. This is as per the doctor.
My daughter got what my wife has and formed a compound.They even suspect that some mutation has occurred.

CBC Blood report before 3rd transfusion dated April 1st 2014
Diff Morph Count
WBC 29.36 [10^3/uL]  Reference (4.0 - 10.0)
RBC 3.21 [10^6/uL]  Reference (3.8-5.5)
HGB 6.3 [g/dL] Reference (12.0-17.0)
HCT 21.7 [%] Reference (36.0-50.0)
MCV 67.6 [fL] Reference (83.0-101.0)
MCH 19.6 [pg] Reference (27.0 - 32.0)
MCHC 29.0 [g/dL] Reference (31.5-34.5)
PLT 332 [10^3/uL] Reference (150-410)
RDW-CV 30.8 [%] Reference (11.6-14.0)
Baso 0.29 [10^3/uL] Reference (0.02-0.1)


Down of the report they have written, manually not sure about the spelling:

ngelocytes- 01%
metangelocytes - 0.2%
N- 50%
l_47%
E-00
m-00
B-00


anisopoikilucytosis with micronytes, macrocytes, targetcells, teardrop cells,
fragment cells, ethptocytes.
For polychrmatic cells be nomblasts : 24/100 WBCs



Thanks,
Eki
Thanks,
Eki

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Offline Andy Battaglia

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #4 on: April 19, 2014, 03:11:45 PM »
One more question. Has she been tested for folate and B-12 deficiency? The RDW is off the charts and far higher than one would see with thal or iron deficiency. Deficiency of folate or B-12 would be possibilities.

I'll get back later when I have a bit more time.
Andy

All we are saying is give thals a chance.

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Offline Andy Battaglia

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #5 on: April 19, 2014, 10:44:16 PM »
Need your suggestions on below:
1) Is there a real requirement of transfusion when HB count is 5.4 ? The count drops from 6 to 5.4 when she has infections.I understand the risks of transfusion.

Transfusion is normally begun after there are two consecutive Hb readings below 7. However, some who have HbE beta thal manage with lower Hb levels than 7, so factors such as skeletal changes, ability to manage at low Hb, growth and development and overall health play a role in whether or not transfusion should begin. Below 6 is not acceptable under any situation and transfusion should take place.

2) What should be the food provided to a 1 year baby of  Double heterozygous HB E thalessemia ? Now she is taking folic acid as prescribed. I read in this forum that beet is good, so I will be giving her that.

Review the information in our Diet, Nutrition and Supplements board. In general, a healthy diet including plenty of fresh fruit and vegetables and complete avoidance of empty calories and junk food should be followed. The thread "Nutritional Advice for Thal Major and Intermedia" gives a list of supplements that can be taken. For a young child, take no more than 1/4 dose of the lowest advised amount.

3) will a bit of exercise improve the health? Will this not consume more of the oxygen supporting things in body?

Exercise is very important to thals and should begin at an early age. Patients must pace themselves and learn their limits, but exercise is very important for optimizing the oxygen supply and for ensuring oxygen reaches the extremities. Not exercising will do harm to a patient.

4) How does the doctors read the iron level , mch or mcv?
Is there any food habit or natural technique to decrease the iron deposits?

These levels are all taken from a CBC (complete blood count). Iron is monitored by serum ferritin count, but as she gets older she should undergo annual liver and heart scans to accurately assess the iron load. MCV and MCH refer to the average size of red blood cells and this is lower in thals because the smaller RBC's are included in the average.
Again, refer to the above mentioned board for advice on diet. Many supplements like wheatgrass and IP6 can supplement, but not replace iron chelation. A chelation drug must be used once the child has had 10-20 transfusions.

5) At times she gets fever and cold and leads to urine infections. This decrease the HB count. Any way to maintain the immunity?

If she lives with a low Hb and doesn't transfuse, her immune system will be lower. Even when transfusing, the immune system will be weaker than normal. Getting proper nutrition, especially vitamin C (in low amounts) and vitamin D can help the immune system.  A child getting urinary infections should also increase hydration. Water and tea can be consumed. Avoid soda pop.
Andy

All we are saying is give thals a chance.

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #6 on: April 20, 2014, 06:57:28 AM »
Hi Dr.Andy,
Thanks for your time and response. No, there has been no test conducted to check folic acid and B-12 deficiency.
Although she has been taking folic acid.

Now the ferritin reading is 924.6 mg/ml , while the normal reference seen is 10 to 290. This means she has crossed the normal level.
Should I worry for that as of now?

Thanks,
Eki

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Offline Andy Battaglia

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #7 on: April 21, 2014, 02:34:04 PM »
Get the folate and B-12 tests done.

The ferritin is rising and a chelator will soon be needed. This usually begins after 10 or more transfusions. Asunra is probably the easiest chelator to start with for children. It is also known as Exjade, desirox and defrijet. Talk to your doctor about when to begin, but before starting the drug, revert back to me for instructions on how to start, as to limit any side effects.
Andy

All we are saying is give thals a chance.

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #8 on: April 23, 2014, 06:37:54 AM »
Thanks Dr.Andy.
We have given the sample today for tests, will let you know the outcome.
Thanks,
Eki

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #9 on: May 01, 2014, 06:03:09 AM »
Hi Andy Sir,
The test results have come today, below are the readings.

vitamin B12:  701 (reference 211 to 911 pg/ml)
Folic acid less than 24 (normal less tha 5.38 ng/ml)

Also we went to the local medicine store to get wheat grass powder , they did not give us the same  saying that my kid is below 2 years and its not advised to kids below 2 years. I have to order it from ebay where they do not ask for prescription.

Get the folate and B-12 tests done.
Thanks,
Eki

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #10 on: May 02, 2014, 07:07:54 AM »
Hi Andy Sir,
The folic acid reading is more than the reference. Is this dangerous? Is it normal in Thal babies?
Thanks,
Eki

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Offline Andy Battaglia

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #11 on: May 02, 2014, 06:24:26 PM »
The range given for folate is not correct. The normal range is 2.7 - 17.0 nanograms per milliliter (ng/mL). Levels will also vary from lab to lab. I would not be concerned about the level.
Andy

All we are saying is give thals a chance.

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Offline ekilucky

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Re: Double heterozygous HB E thalessemia, need advise
« Reply #12 on: May 03, 2014, 07:03:36 AM »
Hi Andy sir,
Thanks again. Till now kid is doing fine. I will let you know if i have any concerns. You are very generous spending your valuable time and helping people like me.
Thanks,
Eki

 

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