Am I a thalassemia carrier?

Hi, I'm new to this site.  I was wondering if anyone could help me understand if I am a thalassemia carrier.  I'm 6 weeks pregnant and recently found out that I may be a carrier.  My husband is a thalassemia minor.  I took the hemoglobin electro test.  My results seem to be in range but still was told I was a carrier.  This is very upsetting because I was told that my child could have a 25% chance of having thalassemia major.

My results are as follows: RBC 4.46, Hemoglobin 13.5, Hematocrit 39.9, MV 89.6, MCH 30.2 RDW 14.6, Hemoglobin A 96.0L (which came back is being out of range), Hemoglobin F <1.0 and hemoglobin A2 3.0.  All of the research I've done tells me this is normal so I don't understand how I can be a carrier.

Can someone please help me understand this better?  I was told yesterday that I need to see a genetics counselor and to get a cvs to test the fetus.  I'm soo worried.  Please help me better understand.

Thank You!

Best way to tell if you are a thal minor/carrier is to do the electrophesis test, which you already did and shows that you are a carrier. Your hemoglobin is 13.5 which is lower than a normal female adult. I know it is in the range (but please note thal minor hg remains in the range but never reaches at their peak levels). Your hematocrit level is 39.9 (normal range is 38-46) I think the lower reading of hematocrit means you are anemic/possibly thal minor/carrier. To understand more please read below:

Hematocrit levels are basically based on the proportion of red blood cells a person has in his/her body and this level is expressed in percentage form.
The percentage that shows how many red blood cells you have is expressed as such: If a person has an HCT level or hematocrit level of 40 percent, it means that for 100 milliliters of his blood, he has 40 milliliters that consist of red blood cells.
When hematocrit levels need to be measured, it can be done automatically with a machine that calculates the hematocrit level in a person’s blood and determine hemoglobin amounts and red blood cell average volumes. Manual measuring is done with the use of a centrifuge system.

How to Determine Hematocrit Normal Range
When a person wants to know if he or she has normal hematocrit levels or if they want to know if members of their family have normal HCT levels, here is a list of normal ranges depending on age:

Newborn babies should have 55 percent to 68 percent HCT levels.
A one-week-old baby should have HCT levels between 47 percent and 65 percent.
A three-month-old baby should have HCT levels that range from 30 percent to 36 percent.
An HCT level of 29 percent to 41 percent is normal for a one-year-old baby.
Children around 10 years of age will have normal HCT levels at 36 percent to 40 percent.
Adult females should have around 38 percent to 46 percent HCT levels for normalcy.
Adult males can have normal HCT levels when it is at 42 percent to 54 percent.
Importance of Low and High Hematocrit Levels

What does a low and a high hematocrit level mean? Why does a person get high and low hematocrit level?

When a person is diagnosed with a low hematocrit level, then that person can be called anemic. Reasons for having low hematocrit levels include the recent loss of blood due to surgery or an injury, problems with the bone marrow, nutritional deficiencies, and even having an abnormal hematocrit or sickle cell anemia.
Elevated hematocrit levels in a person can signify a variety of illnesses or situations. People who live places with high altitudes as well as chronic smokers tend to have high hematocrit levels. Certain tumors, lung disease, and even dehydration can also show a person having an elevated hematocrit level.

Thank you for responding quickly to me.  This is all very new to me and I'm trying to understand everything.  I guess what your trying to tell me is even though I'm considered within range I can still be a thalassemia b carrier? I wish I would have know before I became pregnant I would have been more prepared to know what to expect. 

Is it true that my child is at a 25% risk for thalassemia major?

I'm sorry for asking so many questions.  You were very helpful.

Hello Melanie and welcome to the site,

In answering your question about the possibility of  having normal ranges and at the same time the doctor says you are a carrier, the answer is YES this could happen.

There are many different kinds of beta thal mutations, some are clearly expressed in the patients' blood picture and may lead to severe anemia and other side effects and some mutations are just silent, meaning they are there and can be inherited but does not reflect in blood test and even  some may not know about it at all ( which was my case)

So you could be a silent carrier of beta thalassemia. What will confirm this and even give you the kind of mutation is a DNA test.


One more point, Hb A2 is only reliable when there is NO iron defiency anemia ( i don't think you are defiecnt since your HB is around 13) and usually 3.4% and above indicate being a carrier.

Is it true that my child is at a 25% risk for thalassemia major?

The answer is yes. If both parents are confirmed carriers, this is the right percentage. But i want to let you know that knowing this fact is not annoying, you should consider yourself lucky cause you have many options there.

It is important to do either CVS test or aminothentesis test by which you can check if the baby has inherited the muted genes or not (thal major) and if yes you can decide whether you will continue with the pregnancy or not.

Please feel free t oask as many questions as you want and make sure we are here for you to support you and clarify anything

Take care

manal

Hi Melanie,

I have to agree with you about all of your levels being within normal range. If you check this site for the normal levels from a complete blood count (CBC), you will see that every one of your levels is perfectly normal. http://www.clinlabnavigator.com/Tests/CompleteBloodCount.html

Parameter
   

Reference Range
   

Critical Value

WBC
   

4,000 - 11,000/uL
   

<1,000/uL

>50,000/uL (if first diagnosis)

>100,000/uL (known patient)

RBC
   

Males      4.31 - 5.84 mil/uL

Females  4.00 - 5.00  mil/uL
   

Hemoglobin
   

Males       13.0 - 17.0 g/dL

Females   12.0 - 15. 0 g/dL
   

<6.0 g/dL

Hematocrit
   

Males        40 - 50%

Females    36 - 45%
   

<18%

>70% neonates up to 2 mos

>60% all others

MCV
   

80 - 99 fL
   

MCH
   

27 - 34 pg
   

MCHC
   

32 - 36%
   

Reticulocytes
   

0.4 - 1.8%
   

Immature Reticulocyte Fraction
   

0.0 - 0.16
   

RDW
   

<14.5%
   

Platelet Count
   

140,000 - 400,000/uL
   

<30,000/uL

>1 million/uL

Mean Platelet Volume
   

9.4 - 12.3 fL
   

Immature Platelet Fraction
   

1.1 - 7.1%
   

Normally, a thal minor will have a low MCV at the least, even if the hemoglobin is normal, but yours is right in the middle of normal. In addition, pregnant minors often have low Hb levels during pregnancy, while yours is currently very good for any pregnant woman. 96% is the low end of normal for HbA and HbF below 1% does not indicate thal minor. In fact, the low level for normal for HbA is sometimes listed at 95. Keep in mind that low normal is still not low. It is normal range. Se e http://www.nlm.nih.gov/medlineplus/ency/article/003639.htm

Your tests do not indicate any anemia of any sort, so either the doctor that told you that you are a carrier is not very familiar with thal minor, or and this can be important, there was something about the physical characteristics of your red blood cells that led the doctor to believe you may be a carrier. But again, if the RBC's have unusual characteristics, this is normally seen with by low MCV. If the HbA level alone is the reason the doctor said you're a carrier, then you should get a second opinion. If you want to completely rule out the possibility, you can have a DNA analysis done. This will definitely give you an answer.

Hi Manal,

Thank you for the information.  I found this site and the members to be so helpful.  I think the best way to really find out if I am a carrier is to have a DNA test. 

Hi Andy,

I really appreciate all of the information you sent me.  Your right I should get a second opinion since the first one from my doctor doesn't make at all sense.  I'm also going to get a DNA to confirm that I am or am not a carrier.  Is it possible that different laboratories have different standards for in range and out of range?  Also I live in the Philadelphia area do you know where I could get a DNA test?

By the way, I have read many posts by you and you are truly amazing.  You give people so much hope and courage to overcome some difficult circumstances.  More people in this world should be like you it would make the world a better place! 

Again thank you for everything!

Hi Melanie

You are welcome, good luck and please keep updating

By the way, I have read many posts by you and you are truly amazing.  You give people so much hope and courage to overcome some difficult circumstances.  More people in this world should be like you it would make the world a better place! 

Can not agree more

manal

Hi Melanie,

Philadelphia has a great thal treatment center. They should be able to advise you where to go for testing in the area. The contact info is below.

Children’s Hospital of Philadelphia
Appointments, consultations and referrals Contact: Marie Martin, 215-590-2197
Philadelphia, Pennsylvania

Director: Alan Cohen, MD

http://www.chop.edu/consumer/jsp/division/meet_the_team.jsp?sid=26685


Physician Referral Service     1-800-TRY CHOP (1-800-879-2467

Hi Melanie
Don’t be panic, if u know before pregnancy even then the process is the same(CVS test) which shows that ur coming baby is Normal, Thal Minor, OR Thal. Major. After this test doctor advice u what to do. Usually parents and doctors continue Normal and Thal. Minor and abort the baby if the result shows Thal. Major. Also takecare that I think the limit to do this test is 12 weeks after that doctor will not agree to abort the babay (so be intouch with ur doctor)
Now come to the point 25% chances…… its just a statistical data that 25% chances that ur coming baby will be thal. Major.
As my first son SAAD is Thal Major. And my 2nd baby was also Thal Major (CVS test shows) so we done abortion.(this is just I m telling to clear ur mind regarding 25%. Not to afraid)
So don’t be panic inshallah u will get a health baby……. We will pray for ur health baby…keep smiling …and best wishes from me and all of us who use this site