Hi, my daughter 8yo has had about 15-20 urinary tract infections in the last 4 years 2 of which have become kidney infections, she has a strange cough all the time, bone pain on hips and , shins and knees, nerve pain and doc says her incontinence is possibly nerve related but it could just be symptom of uti, slightly dropped from her line in the height growth chart over the last 2 years. Has thalasseamia minor. She has always had trouble concerntraighting, at school she very rarely finishes the work because of focus. Always tired. Headaches. She has very healthy diet with heaps of salad and carbs try to limit the meat but her father insists of pushing it on her and she does love red meat. (I have tried to limit based on it causeing acidity but she has had low wcc since before i reduced her meat, doc recommended to limit meat) We have done all the test for physical abnormalities in kidneys ect and everything is normal as far as it filters the radioactive stuff out of blood.
Pediatrician is pushing to put her on ditropan which limits the nerves on smooth muscles from contracting ( so I am trying to have one last ditch attempt to find out what's wrong before she gets medicated for life - highly toxic and affect bowels and other smooth muscles) She has had allergy test and all good. Sandflies and mosquitoes love her and she welts up to the diamtere of 5-8 cm for each bite ( maybe a sign of deficiency) I have read all the information on suppliments and intend on starting these as soon as i get another test to c what if anything she is deficient in. She has good health aside from this and very rarely gets viruses or colds. Her younger sister also has thal minor and has had 3 times where I have found worms on her poo(not pin/thread worm last worms I found were tiny clear 5mm long after explosive diareah)
Blood tests for 8yo done twice over 3months results as follows only listing abnormal counts:
Nov & feb
Hemoglobin :109 & 108 (Range100-150)
Hematocrit : 0.34 (range 0.34 - 0.45)
Mcv : 67 & 68 (Range 72-92)
Atypical lymphs: 0.07 & 0.29 (range 0-0.01)
Platelets are on the low side of normal just inside the range
Thal study: january
Hb A2: 3.8% high (1.8-3.3)
Hb F : 1.8% high (0-1)
Hemoglobin H : not detected
M.C.H : 21 low (25-33)
Tibc : low end of range
Transferring saturation : 20 low side range(20-55)
Pathogist note: consistant with beta trait Concurrent alpha thal cannot be excluded
Her father does not have high Hemoglobin F as she does, I am not mediteranian is it possible she has inherrites the high hbF from me? I am a carrier of haemachromatosis but have not had genetic test only blood count. Cannot get genetic test done.)
Her fathers says alkaline no abnormal band detected.
Her father is within normal range for folate and b12
Her fathers wcc is right in the middle of normal range (which means hers neutropaenia is prob not to do with thalasseamia inherites from him)
PH level of urine and indicators in blood is usually above what it shiuld be despite very basic diet I think may b from less oxygen around body.
The pathologist suggested getting virus test like ebv but the doctor has said that would be a waste of time.
. We have referral to haematologiast but I'm not feeling optimistic about getting anywhere closer to an answer as it has taken a lot of doctor shopping to get just a referal.as they dismiss that any of the infections, bone pain, ect is to do with the obvious blood results. I just need to know because if the low white cells etc are not associated with thalasseamia more investigation needs to be done to try and prevent whatever it is that's causing it from getting worse as symptoms are increasing in occurances and duration and new symptoms like rash all over face happened the other day (may be unrelated).
Also should my husband be on iron supplements as his iron test seems to indicate he is deficient but we have not be advised. His iron is 9umol/l , TIBC : 52umol/l saturation: 17%, ferritin 286ug/l. It should not be low he eats so much red meat & spinach its not funny. Pathology commented it could indicate infection rather than low iron. So just double checking if anyone on here can confirm.
Other test I had considered asking for:
Renal tube function test (urine test shows her urea is quite high, globulin borderline low, bilirubin borderline low, phosphate high end of range, she nearly always has trace protein in her uti culture tests, doesn't have diabetes)
She has had all her imunisation when she was a baby.
Is it good or bad news that she has high Hb F & Hb A2?
We cannot get a gene test and I'm not sure we need it unless some more advancement happens in the field. Can we figure out the gene? If she has 1 beta gene missing completely and the other perfect would this create small red blood cells or would this not create any hbA ie. Major.
So my question is could the low white blood cells count and high atypical lymphs be a normal part of thalasseamia minor beta?
Should I be worried about the atypical lymphs?
And are all the counts that r out of range normal for beta trait. Is there anything I can do to increase her white blood cells and hopefully fix these infections she has constantly, I am not so concerned about the hemoglobin count it is pretty good I think.
Kind regards
Peta