Thalassemia Patients and Friends

Discussion Forums => Thalassemia Minor => Topic started by: Ishmael on December 28, 2013, 07:36:14 AM

Title: Normal HBA2 Beta Thal OR Alpha Thal?
Post by: Ishmael on December 28, 2013, 07:36:14 AM

Hello Everyone,

I am a 29 year old Male of Mediterranean descent and I am in the process of learning what type of thalassemia I have. I'm definitely a Minor, just not sure if it is an alpha variant or a Beta variant. I have confirmed that my iron levels are normal and do not suffer from Iron Deficiency anemia.

Firstly, Let me share my CBC and HB Electrophoresis results:

CBC:
------
WBC: 4.2                        (Normal: 4  - 10)
RBC: 5.8                         (Normal: 4.5 - 5.5)   High
Hemoglobin: 14.9  g/dl     (Normal: 13 - 17)
Hematocrit: 46.3%           (Normal: 40 - 50)
MCV: 79.3                       (Normal: 83 - 101)    Low
MCH: 25.5                       (Normal: 27 - 32)     Low
MCHC: 32.2                     (Normal: 31.5 - 34.5)
RDW: 13.4%                   (Normal: 11.6 - 14.5)
MPV: 12.5                       (Normal: 7.4 - 10.4)  High
Platelet: 243                    (Normal: 150 - 400)


Hemoglobinopathies Screening:
--------------------------------------
HB A  :  97.4%      (Normal: 95.6 - 97.8)
HB A2:  2.4 %       (Normal: 2 - 3.4)
HB F  :  0.2%        (Normal: 0.2 - 1)

Notes from my doctor: "Normal Hb Pattern. However, in view of the low red cell indices, and in the absence of iron deficiency anemia, this result does not rule out Alpha Thalassemia trait or normal Hemoglobin A2 Beta Thalassemia."

I think I probably have alpha thal, but, I was just wondering if anyone knows how common it is to be Beta Thal with normal Hemoglobin Levels (13-17), and normal HBA2 levels. The only thing that threw me off was my doctors last remark: ("... or Normal Hemoglobin A2 Beta Thal"), not exactly sure what that is. Anyone have any ideas?

I guess the next course of action is DNA testing. I'de be very appreciative of any feedback/advice.

Thanks for reading.
Ishmael

Title: Re: Normal HBA2 Beta Thal OR Alpha Thal?
Post by: Andy Battaglia on December 28, 2013, 04:49:18 PM

More than likely it is alpha trait. HbA2 is normally above 5 in beta minors and Hb lower. Your normal Hb level suggests alpha trait is more likely.

Title: Re: Normal HBA2 Beta Thal OR Alpha Thal?
Post by: Ishmael on December 29, 2013, 06:59:01 AM

Thanks for the reply Andy,

Would you guess it's a single alpha gene deletion or double deletion? I wonder if it is possible to still have normal Hb Levels with double alpha gene deletions.

Ishmael.

Title: Re: Normal HBA2 Beta Thal OR Alpha Thal?
Post by: Andy Battaglia on December 31, 2013, 12:25:48 AM

Going by the MCV, MCH and Hb, it would almost have to be a single gene affected alpha thal. You can have a fairly normal Hb with two gene alpha but the MCV and MCH would be expected to be lower.

Title: Re: Normal HBA2 Beta Thal OR Alpha Thal?
Post by: Ishmael on December 31, 2013, 10:00:16 AM

I see. Appreciate the reply.
I'm glad that it doesn't sound too serious. I'll probably get my DNA test to confirm at some point. Might come in useful before starting a family, potentially.