Thalassemia

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Thalassemia
« on: November 10, 2006, 03:50:41 AM »
What is the best way to categorize thaleassemia variations?

Deletion v.s. non-deletion?
Alpha v.s. Beta?
Trait, Intermedia, Major?

What makes the most sense?  If you were going to explain to someone who know little about thalassemia about the variations what would you tell them, how would you organize the variations?


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Offline Andy Battaglia

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Re: Thalassemia
« Reply #1 on: November 10, 2006, 04:26:55 AM »
Most discussions about thalassemia center on beta thalassemia and it's categories of major, intermedia and minor. More recently, minor is divided into minor and minima, with minima referring to thal trait carriers who experience few if any symptoms. Deletion and mutation would only be discussed in terms of why thal occurs and not in terms of specific mutations/deletions. Alpha is usually mentioned in terms of three gene deletion alpha (hemoglobin H disease), and HbH is compared to intermedia in beta thals. Four gene deleted alpha leads to miscarriage or death or stillborn or death at birth because no hemoglobin is produced. The alpha gene is more common in the world but because it takes three genes to cause HbH, most alphas have no problems as they typically carry only one or two alpha thal genes among their four Hb alpha genes.

The easiest way to explain thal would be to talk about the categories of beta (major, intermedia and minor) and then mention alpha in terms of HbH.
Andy

All we are saying is give thals a chance.

Re: Thalassemia
« Reply #2 on: November 10, 2006, 04:56:57 AM »
What does HbH stand for?

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Offline Andy Battaglia

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Re: Thalassemia
« Reply #3 on: November 10, 2006, 05:14:08 AM »
HbH is hemoglobin H disease. It is three gene deleted alpha thalassemia.
Andy

All we are saying is give thals a chance.

 

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