Mr ANDY kindly help me

Dear Mr Andy
I come from Vietnam, sorry if my English not so good.

My wife have pale skin and always feel tired and some time have migraine headache
So, when we have some CBC in July 2012 in the local province the results show as:
HGB 113
HCT 0.395
MCV: 69.7L
MCH 20L
MCHC 296L
RBC: 5.67H
RDW: 15.3%


I though she is Thal carrier even the doctor said her CBC is "normal"

After that we go to a special hematology hospital it Hanoi after 2 months
Their did some test and result as below
1. CBC
HGB 124
HCT: 0.379
RBC: 5.48
MCV: 69.1
MCH: 22.6
MCHC 15.3

2. Hemoglobin Elec:
HB A: 97
HB F: 0.6
HB A2: 2.4

3. PCR gene target 3 point mutation common in beta-thalassemia in Vietnam but all come Negative

4. Osmotic fragility target alpha thalassemia but her test result come normal start at 0.5% and complete at 0.3%

The specialist said she is not a Thalassemia carrier but she can not find why my wife red blood cell in CBC should like that.

Since in the past she already take some period (6 months) of Iron+Folic acid I don't think she is Iron Deficiency

Mr Andy kindly give me you advise in this situation

Thank you for your great help.
Tuan

Tuan,

The possibility of her being an alpha carrier should not be ruled out without doing a DNA analysis. Alpha carriers can be quite difficult to detect from the blood work alone. Her RDW does not indicate iron deficiency, although an iron panel should be used if this is a possibility. Have you also been tested?

Dear Mr Andy
Her serum iron is 20 um/l

I did CBC and some test already, results as below:
1. CBC
HCB: 161
HCT: 0.454
RBC: 4.89
MCV: 93
MCH: 32.9
MCHC: 353
RDW: 12.8

2. Hemoglobin Elec
HBA 97.4%
HBA2: 2.6%

3. Osmotic Fragility
Start: 0.7
Complete: 0.425

My mother in law already passed away since she have a stroke, also, my mother in law's sister had a stroke in the past but recovered (both have pale skin) another of her sister have white skin seems stronger

My wife and me already have 2 fail pregnancy

1st: 8 weeks gestation miscarriage

2nd: 35w preterm delivery, the boy, live in NICU, after 2 days develop jaundice and required phototheraphy, but still severe jaundice, at days 7 turn ill and doctor find some internal bleeding, hyperbillirubin. They decided to full transfusion but after that he had multi organ defunction and passed away

Anyhow, Mr Andy, DNA analysis in Vietnam maybe can not have fully like developed country.
In case of PCR target beta-thalassemia, first of all the doctor wanted to find 7 mutation but the lab only can do 3 of them (lack of chemical use for other)
PCR for alpha-thalassemia maybe in Viet Nam don't have that kind of chemical

But one thing I wonder why the hematology specialist in Thalassemia in Vietnam National Hospital of Hematology said my wife "absolutely was not a thal carrier, and her CBC is "normal", MCV 70 and high RBC is "normal"

It's very sad to hear about your losses. I am concerned that there is an alpha thalassemia present, that is not diagnosed. This may be something other than the more common alpha deletions, and possibly a mutation, rather than a deletion. If this is the case, there should be some evidence in the newborn blood test that should have been done shortly after the birth of the child. If you can get that report, it may give some indication of why the child could not survive. Your own tests look very good, but there is still a slight possibility that you are a silent alpha carrier. If you can get the electrophoresis from the birth of the baby, it should show if alpha thal is present.

Mr Andy
At that time since we have no ideal about my wife blood, the Pediatrics Hospital only think he jaundice due ABO incompability since he had B+ and my wife O+.
I though the pediatric doctor at that time never think about hemoglobin elect.

Even at this time some hematology specialist in Hanoi still believe my wife CBC is "normal" and "absolutely no chance she is thal carrier".

MCV: 69.7L
MCH 20L
MCHC 296L
RBC: 5.67H
RDW: 15.3%

The MVC, MCH and MCHC are not normal. No doctor should claim that these are normal values. They're not even close to borderline. If iron deficiency was the cause, you would expect a lower RBC and higher RDW. This is almost certainly thalassemia, but the low HbA2 and low HbF do not support beta thal. They would support a diagnosis of alpha thal carrier. I suspect she has one of the alpha traits commonly found in Southeast Asia, possibly a mutation or one of the deletions that is large and affects adjacent genes.

Do you know if a newborn blood test was done after the birth? This is routine in the US, but it varies from country to country. If you are not certain, please contact the birth hospital and request any records they may have.