questions about thal intermedia

  • 26 Replies
  • 21200 Views
questions about thal intermedia
« on: September 14, 2010, 06:59:25 PM »
My husband and I knew that we both had thal minor.  We recently had DNA test done and the counselor told us that my husbands gene change would most likely cause thal intermedia and not thal major.  They also said that if a child were to get both genes from us the symptoms could range from infrequent blood transfusions to close to thal major.  Is anyone familiar with this combination.  what is the quality of life like for thal intermedia patients?

*

Offline nice friend

  • Thalassemia Major
  • *
  • 2836
  • Gender: Male
  • If I Can, Why Not You??... If I Can U TOO !!!...
Re: questions about thal intermedia
« Reply #1 on: September 14, 2010, 08:43:55 PM »
 Hi Question ,
 :welcome2 , its nice to  see you posting .. i hope you'll find the answer of your question very soon here on this forum .... feell free to share watever you want  to share with us abt you  and dont hesitate to ask if you  ever want to ask about anything .. i hope you'll find this forum very friendly and helpful ...

Best Regards
Take CAre
Umair
Sometimes , God breaks our spirit to save our soul.
Sometimes , He breaks our heart to make us whole.
Sometimes , He sends us pain so we can be stronger.
Sometimes , He sends us failure so we can be humble.
Sometimes , He sends us illness so we can take better care of our selves.
Sometimes , He takes everything away from us so we can learn the value of everything we have.

===========
Umair

*

Offline Andy Battaglia

  • *****
  • 8793
  • Gender: Male
  • Will thal rule you or will you rule thal?
Re: questions about thal intermedia
« Reply #2 on: September 15, 2010, 12:15:29 AM »
Thalassemia intermedia does cover a wide area, and as you've learned from the counselor, your husband's gene mutation is one that often results in intermedia when combined with another thal gene. Because there are other factors that modify how each gene works, and also possible factors that effect how much fetal hemoglobin can be produced in an individual, it is difficult to predict the ultimate outcome based on the gene mutations alone. Intermedias often do not transfuse or start at a later age than majors. Their blood demand is usually less frequent than with majors, when they do need to transfuse on a regular basis. Transfusing intermedias also need iron chelation to remove excess iron, but even non-transfusing intermedias can need some chelation, as the gut will absorb too much iron when the Hb level is chronically low, as seen in intermedia. Quality of life depends greatly on the treatment program, but thals live fairly good lives these days, complete with careers and families, as long as a good treatment program is in place and the patient complies with the program. In the US, the best treatment can be found at the Centers of Excellence.

IVF does remain a solution for many couples who find that both carry the thal gene. This can guarantee that a child would not even be a carrier.
Andy

All we are saying is give thals a chance.

*

Offline Manal

  • *****
  • 3100
  • Gender: Female
  • mother of thal intermedia child
Re: questions about thal intermedia
« Reply #3 on: September 15, 2010, 01:53:15 AM »
I totally agree with Andy that you can not predict the outcome . Do you know the type of your mutations?

manal

Re: questions about thal intermedia
« Reply #4 on: September 15, 2010, 04:23:35 PM »
Thanks for your responses.  I am not sure about the mutations, but I can try and find out.

Re: questions about thal intermedia
« Reply #5 on: September 15, 2010, 06:42:23 PM »
The mutations are Q39x and C.92+6TtoC.

*

Offline Andy Battaglia

  • *****
  • 8793
  • Gender: Male
  • Will thal rule you or will you rule thal?
Re: questions about thal intermedia
« Reply #6 on: September 18, 2010, 05:20:53 PM »
I believe that the Q39x mutation is a beta 0 mutation and that the C.92+6TtoC is a mild beta+ mutation. The combination would most likely be intermedia but the ultimate outcome is not possible to predict at this time. There are other factors involved. I would assume that you carry the Q39x mutation if your husband has been told his would lead to intermedia. The beta zero means that gene can produce no useful hemoglobin. Have you had problems with anemia throughout your life? If not, you may also carry some modifying factor, such as the hereditary persistence of fetal hemoglobin gene, which would help to raise your Hb level some. Because of factors like this, it is not possible to accurately predict the phenotype your children may have, but it is almost certain that intermedia would be the outcome if a child received thal genes from each parent.
Andy

All we are saying is give thals a chance.

Re: questions about thal intermedia
« Reply #7 on: September 19, 2010, 12:40:36 AM »
Thank you for your response Andy.  That sounds like what the counselor told us, but she said that the severity of intermedia varies greatly and that it is impossible to tell what the severity might be.  I have had some fatigue throughout my life, but no problems with anemia.  There have been times when my hemoglobin has been low, but my doctor tells me that my body has adjusted.

*

Offline Manal

  • *****
  • 3100
  • Gender: Female
  • mother of thal intermedia child
Re: questions about thal intermedia
« Reply #8 on: September 19, 2010, 12:47:53 AM »
Quote
severity of intermedia varies greatly and that it is impossible to tell what the severity might be.

 :exactly :agree

*

Offline Narendra

  • ****
  • 462
  • Gender: Male
Re: questions about thal intermedia
« Reply #9 on: September 20, 2010, 03:50:02 PM »
I would also urge you to read Section 18 (Thalassemia Intermedia) in the Standards of Care Guidelines for Thalassemia (Year 2009) at the link http://thalassemia.com/documents/thalhandbook2009.pdf

*

Offline surendra

  • **
  • 53
  • Gender: Female
Re: questions about thal intermedia
« Reply #10 on: January 23, 2011, 04:20:58 AM »
could u tell me the diffrence between thal intermedia and minor.

*

Offline Manal

  • *****
  • 3100
  • Gender: Female
  • mother of thal intermedia child
Re: questions about thal intermedia
« Reply #11 on: February 13, 2011, 11:51:16 PM »
Hi surendra

Andy has explained the difference in a very detailed and clear way in the link below
http://www.thalassemiapatientsandfriends.com/index.php/topic,1575.0.html

Please feel free to ask if anything is not clear

manal

*

Offline debbiedlee

  • *
  • 5
  • Gender: Female
Re: questions about thal intermedia
« Reply #12 on: March 25, 2011, 01:45:29 AM »
I dom"t know what it is like  4 other wiith my thallessamia intermedia. but disease keeps at my hemotologist. I have lost 1 kidney. i have seizures.mu blood gets check every month, i have been congestive heart failure. i had 2 strokes,last year i had 26 transfusions. 3 transfusions. i have 8 doctors. I het and depressed on xoloft for it .right i have tr eat. will return
Quote
debra

*

Offline Zaini

  • *****
  • 3448
  • Gender: Female
  • Life is too short to be perfect.
Re: questions about thal intermedia
« Reply #13 on: March 25, 2011, 03:11:18 AM »
I am sorry to hear that,did your doctors ever tell you why all this happened? and how it could be prevented? are you transfusing and chelating regularly?
^*^Xaini^*^

*

Offline ABI

  • *
  • 10
Re: questions about thal intermedia
« Reply #14 on: March 28, 2011, 02:30:29 PM »
hello,

i had two brothers who were thalassima major, and both doesnt live anymore. i havent had any problem until now and  i am 25 years old. i have had electrophoresis of hb and result were not carrier but now i am afraid of thalassemia intermediate.
what test can i do to now this?

 

SMF spam blocked by CleanTalk