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HbF Gene Variant Linked to Moderated symptoms of beta-thalassemia

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Andy Battaglia:
It is amazing how quickly these new discoveries are coming. This is a major factor in explaining the difference in severity of cases where the thal mutations are similar but the severity is not.

http://www.nia.nih.gov/NewsAndEvents/PressReleases/PR20080130thalassemia.htm


--- Quote ---Sunday, January 30, 2008

Contact:
Megan Homer
(301) 496-1752
Nianews3@mail.nih.gov

Beta-thalassemia is a serious, potentially life-threatening disease that affects red blood cells, cells that carry oxygen via hemoglobin throughout the body. As part of the SardiNIA Study of Aging, supported by the National Institute on Aging (NIA), a component of the National Institutes of Health (NIH), scientists have found a genetic variant in the BCL11A gene that can explain why some people with beta-thalassemia seem to be protected from most dangerous symptoms. The findings appear this week in Proceedings of the National Academy of Sciences.

While all those affected in the Sardinia study population have the same mutation in adult hemoglobin, the carrier of oxygen in the red cells, some people experience less extreme symptoms than others — mild enough that these individuals do not need to undergo regular blood transfusions, usually a necessary treatment for beta-thalassemia. People with this blood disorder do not have enough hemoglobin binding to oxygen within their red blood cells and are therefore weakened. They are also at risk for "hemolytic crisis," a condition in which their red blood cells are destroyed faster than their bodies can make new ones. It has been known that some individuals escape hemolytic crisis because they retain a high level of fetal hemoglobin (HbF), which is turned off at birth in most people. The persistence of fetal hemoglobin seems to substitute for the lack of adult hemoglobin sufficiently to moderate the course of the disease.

Now it has been shown that variation in the BCL11A gene, discovered through a genome-wide scan of 4,305 research participants in Sardinia and representing a founder population with a high frequency of beta-thalassemia, is strongly associated with elevated levels of HbF and is specifically more common in the individuals with less severe disease. Also in this study, researchers found the same BCL11A variant associated with persistent HbF levels among 1,242 patients from the Cooperative Study of Sickle Cell Disease, another disorder in which adult hemoglobin levels are depleted. The study raises the possibility that manipulation of BCL11A levels might be studied as a potential therapeutic intervention to alleviate hemoglobin deficiencies that occur in people with beta-thalassemia and sickle cell anemia.
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kabir_love:
andy ..
my son hdf-91% since 2 years. is this helpful then? or im not understanding this...

hopefulmommy:
Hi,
 I am new to this group.Its a blessing to find this site

My daugther born last month has EBeta thal.

Her HB F is 95.5 % and Hb E 5 % , no Hb A or A2 at 21 days.

does it mean it is good that Hb % is high?

Thank you.

Andy Battaglia:
Hi Hopefulmommy and welcome,

I think it's too early to conclude anything from your daughter's Hb level. The fetal hemoglobin (HbF)  levels are still high from  birth and take a few months to drop down. Her long term prognosis will be greatly affected by her ability to produce HbF as she gets older. If she can maintain an ability to produce HbF, it will help to moderate her condition and also make her a candidate for HbF inducers such as hydroxyurea. The absence of any HbA is an indicator that the beta thal gene is minus or zero, so the outcome will be somewhat dependent on the ability to produce HbF long term. However, HbE beta thal is very unpredictable, even when the genotype is known. Siblings with identical genes can have very different phenotypes. ie. One might be transfusion dependent and one might not be. Time will tell how your child does, and as I said, she may be a candidate for hydroxyurea if her HbF production is good.

We will join you in hopefulness that your daughter falls into the non-transfusing category.

hopefulmommy:
Hello Andy,


Thank you so much.
Yeah, I am slowly coming to know about the unpredictability of EBeta Thal.

But is it a reality that E/B0 Thal is much more severe condition that regular thalassemia major?

Also, does gene switching ever happen? As there is  no Hb A in my daughter's blood does it mean that her genes for HbA can never be switched on  and she can not have her on Hb A?

Also, as she is my first chilld and she has got the disease I was wondering something.

I  am thal minor and my husband Hb E carrier, no genetic testing doen yet. I was wondering why is has fallen in disease category and not in the 75% safe zone? Are the chances of having unaffected kid/or carrier status kid for E and BEta carrier parents similar to both thal carrier parents?  I want to plan early for next baby if we she needs any kind of help.

Another thought is , should I start having wheat grass f rom now, so that she can keep high on Hb F through breast milk? Is there anything I can do now/with my diet to make any difference for her good health.

Thank you and best regards,
hopefulmommy

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