Thalassemia Patients and Friends
Discussion Forums => Thalassemia Intermedia => Topic started by: questions on September 14, 2010, 06:59:25 PM
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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?
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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
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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.
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I totally agree with Andy that you can not predict the outcome . Do you know the type of your mutations?
manal
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Thanks for your responses. I am not sure about the mutations, but I can try and find out.
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The mutations are Q39x and C.92+6TtoC.
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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.
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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.
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severity of intermedia varies greatly and that it is impossible to tell what the severity might be.
:exactly :agree
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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 (http://thalassemia.com/documents/thalhandbook2009.pdf)
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could u tell me the diffrence between thal intermedia and minor.
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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
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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
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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?
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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?
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Hi Abi,
Do you have the results of your electrophoresis? Have you also had a complete blood count? If you were diagnosed as not being a carrier, that is most likely true, but if you show me the results, I can confirm it for you.
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the result of the electrophoresis are
HBa 96%
HBf 1.8%
HB A2 2.2%
thank you
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also i have had a complete blood examination but i have to check my results and give you a correct answer
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Yes, if you can show the values for MCV, MCH and RDW, it would be easier to rule out thal minor. The HbF is borderline, but the HbA2 says not a thal minor. The other values can help clear this up.
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thnx Andy is very kind of you.
i will do a blood examination and give you the value.
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also my partner made an Hb electrophoresis
the doctor told him that he doesn't think it would be necessary because his blood examination were normal but i insisted
the values are only two:
HBA 97.2%
HB A2 2.8
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hello andy ,
the results for my blood examination are:
WBC 7.06 [10^3/ul]
RBC 3.75 [10^6/ul]
HGB 12.2 [g/dL
MCV 97.1 [fL]
MCH 32.5 pg
MCHC 33.5 g/dL
PLT 275 [10^3/ul]
RDW-CV 11.2 [%]
RDW-SD 37.9 fL
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Your tests indicate that you are not a thal carrier. Your partner has no HbF level at all, which indicates no carrier status there either.
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thank you Andy?
you gave me a great releif, i guess i was the lucky child with the 25% chances of being healthy. my mother had suffered so much loosing two sons one two year and the other three years old, she was quite sure i had something wrong and she never make me do an electrophoresis, but i want to get sure about that so i did all the neccesary exams.
I wish all thal minor parents to have healthy children.
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Andy,
Why is ABI having fetal HB when she is not even a thal minor???
manal
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The reference range in adults for fetal hemoglobin is 0 - 2%, so she falls into the normal range. Some non-thals will have even higher HbF levels if they have the hereditary persistence of fetal hemoglobin gene (HPFH).
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Thanks Andy, didn't know about this reference
manal