Hemoglobin H - tested my dna

Hi all, I have Hemoglobin H which is like Thal intermedia for Beta Thals.... only on the Alpha Strain. My parents were shocked as we knew my dad had Thal minor ( he's chinese) but no one expected my half Croatian mom would also be a carrier....

We figured this all out in the 80's so there was no way to tell if my mom was a carrier even though they did the genetic testing.

I recently found out that my Dad has the South Asian Variety of alpha thal and my mom had the North African variant.... I surmise that because they are different strains, this is why I have felt very few symptoms of Hemo H. I have never had a transfusion, nor been very affected by it all.

Teenage years kinda sucked, growing was very exhasusting but now at 30 I halve almost as much energy as anyone else.

Has Anyone else done genetic testing?? ?

I'm waiting for results from England.  They suspect Hemoglobin H because all the test results fit and I have a high percentage of inclusions.  It will be nice to know for sure...I also have pulmonary hypertension which seems to be related to it.  

We were a bit baffled as to where in my ancestry I could have gotten the thalassemia since we're primariy British and German.  However after I started doing a little more digging on my German side I found out that they were apparently Ashkenazi Jews who moved into Germany and had changed their names to avoid persecution.  Then a few weeks ago I found out that both my mother and father descended through this line.  

What are your symptoms?  Are you very sensitive to chemicals and certain foods?  I bought a hemoglobin meter several years ago and found that eating any legumes dropped my blood count a couple of points...same with exposure to things like paints, solvents, air fresheners, etc.  For several years I was eating foods that continued to cause hemolysis and my hemoglobin was running 5-6.  Now that I've avoided all the things that cause oxidative stress it's staying around 10.  

Where did you get your testing done?  

Jan

Jan,

I really hope that the new testing can clear things up for you. Your reaction to legumes and various chemicals does make HbH a more likely cause and is something that others should consider when trying to explain hemolysis. A daily food diary may help some people identify what foods are contributing to hemolysis.

Please let us know the results once you receive them.

Andy,

It has been a mystery...at first we thought it must be a G6PD deficiency (one of the more severe variants that causes sensitivity to all legumes and other foods/medications/chemicals that cause oxidative stress).  But my enzyme levels are actually very high.  I came across a pamphlet on Hemoblogin H (http://www.cdph.ca.gov/programs/nbs/Documents/NBS-ParentsHbH_Oct99.pdf) and saw that there were the same triggers listed for hemolysis as G6PD deficiency (it doesn't cover the contraindicated foods, but there are a couple of good websites with lists).

At the time I'd been through all the different tests for hemolytic anemias as well as electrophoresis and nothing showed up.  If you hadn't told me Hemoglobin H is not detectable by electrophoresis in adults I would not have realized it was a possibility.  I also found a good hematologist who recognized the RBC patterns as indicative of thalassemia and he helped me get the DNA testing.  Getting diagnosed with pulmonary hypertension seemed to further confirm his hunch. 

We probably won't know for a while what the testing shows, but in the meantime I am much more able to control the hemolysis by strictly avoiding the factors that cause oxidative stress. 

Jan

Hi there Jan, 

I have Hemoglobin H and I wanted to share with you an experience I had in regards to the Hemoglobin H and the electrophoresis.

Basically, Hemoglobin H actually CAN be detected on the electrophoresis in adults.  It moves extraordinarily fast, but it can be seen by someone trained to see it.  When I was seen by the hematologist at age 20someodd, his lab technician couldn't see the Hemoglobin H until he instructed her on what to look for and to basically not ever blink while watching it.  It took a few tries, but she finally visualized the Hemoglobin H.

I hope you get the answers soon!

What are your symptoms?  Are you very sensitive to chemicals and certain foods?  I bought a hemoglobin meter several years ago and found that eating any legumes dropped my blood count a couple of points...same with exposure to things like paints, solvents, air fresheners, etc.  For several years I was eating foods that continued to cause hemolysis and my hemoglobin was running 5-6.  Now that I've avoided all the things that cause oxidative stress it's staying around 10.  

Where did you get your testing done?  

Jan

Hi Jan, I am very lucky in that I live in Vancouver BC and my hemotologist sent off the testing as she is part of a team of Dr's that are making sure that those of us who are relativly symptomless still get checked out and followed.

In terms of symptoms, I am super lucky - I'm relativley symptomless... I do fatigue much faster than most, during my time of the month there are days when I can barley get out of bed. Oh, and I catch every virus that comes near me.  I have never been transfused and am crossing fingers that I never am.

I don't believe that I am sensitive to foods and chemicals. I did look at that list that you posted... and I have always stayed away from that stuff. As much as possible.

In term of the results... my results came back a few months later... so hopefully you will get your results soon. Iam curious as to what you find out.

Take it easy,

Hi,
I am 1/4 Croatian, my mom is half and has Alpha Thalassemia as do I and my daughter.  Just wondering where in Croatia your family is from.  We are from the Perusic area.  My family there is Hecimovic/Hecimovich and Oreskovic/Oreskovich.  I am interested in comparing genetic notes with anyone else who has this and is or Croatian descent.
Thanks so much,
Rainy