Mini Bone Marrow Transplant

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Mini Bone Marrow Transplant
« on: November 03, 2013, 12:54:28 AM »
HI,
I am a 46 year old female I was told I am heterozygous for the codon 39 CAG>Tag or Gln39term Beta Thalassemia mutation.
Also heterozygous for the a-globin gene triplication of the anti-4.2 type ( aaa anti_4.2/ a a )......Whatever that all means, but was told this confirmed my Thal Intermediate status.
Current Conditions:

   
Personal history of other malignant neoplasm of skin
 
   SCC Left Shoulder FL excised approx 2005

Amaurosis fugax of right eye
   
Iron overload due to repeated red blood cell transfusions   
Acute DVT (deep venous thrombosis)   
 
   On Xarelto   
Ischemic colitis
   S/p right hemicolectomy 9/11
Venous thrombosis   
S/P cholecystectomy
   2004   
S/P splenectomy
   2004   
S/P appendectomy
   1985   
S/P ectopic pregnancy
   2003   
Migraines
   Gets migraine probably every 2 weeks. Occasionally takes Excedrin. Knows this is dangerous with Xarelto!   
Thalassemia intermedia
   Heterozygous for beta-thalassemia (codon 39 CAG>TAG or Gln39Term B0-thalassemia mutation
-ALSO Heterozygous for
Alpha-globin gene triplication of the anti-4.2 type
   
Mesenteric thrombosis

Latest Labs
WBC
    4.0 - 10.0 x10(3)/mcL
   
3.4 (L)
RBC
    3.93 - 5.22 x10(6)/mcL
   
3.59 (L)
Hemoglobin
    11.2 - 15.7 gm/dL
   
8.2 (L)
Hematocrit
    34.0 - 45.0 %
   
26.8 (L)
MCV
    79.0 - 94.0 fL
   
74.7 (L)
MCH
    26.6 - 32.2 pg
   
22.8 (L)
MCHC
    32.0 - 36.5 gm/dL
   
30.6 (L)
Platelets
    145 - 370 x10(3)/mcL
   
824 (H)
RDWSD
    35.0 - 46.0 fL
   
74.7 (H)
RDWCV
    10.9 - 14.4 %
   
29.5 (H)
MPV
    9.0 - 12.0 fL
   
10.5

Ferritin            359
Iron   185                      30 - 150   mcg/dL
TIBC   233                     250 - 450   mcg/dL
Iron Saturation               79   20 - 50

My question is that the doctor has now thrown out bone marrow transplant as a possible fix to the Thal Intermedia because of all the clots I keep having.  I was on Coumadin when I had 2 DVTs in my legs, I was switched to Xarelto and still had Amaurosis fugax.  I am active, have two children and am perpetually tired.  Is this even something that I should be considering?  It will be discussed further at other doctors visits, but am at a loss since this came about so casually in conversation.  Any thoughts would be respected and appreciated.

Thanks :banghead :banghead

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Offline Andy Battaglia

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Re: Mini Bone Marrow Transplant
« Reply #1 on: November 04, 2013, 06:36:45 PM »
Hi,

Most doctors will not consider a BMT for adults who have chronically transfused, as the rate of rejection is much higher.

Is your Hb really that low? (3.59). I can't see how you could even function with it that low. Is there a mistake in that test?

How often do you transfuse?

You have the triplicated alpha gene, which means you have an overproduction of alpha globin at the same time as you have an underproduction of beta globin because of the beta mutation. This creates a gtreat imbalance between the two globins, leading to a low Hb level, usually similar to intermedia thal, as you have mentioned. Many doctors do not even recognize that this combination of genes can cause havoc in the body and patients are often left fighting to get transfusions. I think your thal can be managed better than it currently is. I believe you most likely need a regular transfusion and chelation program.

Where are you being treated? The US has Thalassemia Centers of Excellence and it may be wise to visit one to get a complete treatment program designed for your specific needs.
Andy

All we are saying is give thals a chance.

Re: Mini Bone Marrow Transplant
« Reply #2 on: November 04, 2013, 11:40:19 PM »
Hgb was 8.2  The WBC were 3.4....can't figure why I am always low on those, too.
I haven't been transfused in about 8 months as I have maintained 7.5 - 8.2.  The reason it was mentioned was because of all the blood clots I have had, and been having even on thinners.  I have been to Boston and am now seeing a clotting specialist at Dartmouth-Hitchcock this Firiday. 

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Offline Andy Battaglia

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Re: Mini Bone Marrow Transplant
« Reply #3 on: November 06, 2013, 01:18:17 AM »
OK, I was reading the line above. Hb of 8 puts you right around similar cases that have been reported here. I believe the problem lies in the unstable hemoglobin produced due to the triplicated alpha gene. Normally, a hemoglobin of 8 tells doctors that transfusions aren't necessary, but the patient may feel otherwise. I am familiar with another similar patient who has had to fight to get transfusions no matter how bad she feels. You may be interested in reading some of her posts about what she is doing to improve her health. One good post is at http://www.thalassemiapatientsandfriends.com/index.php/topic,4836.msg46428.html#msg46428

Regarding the clots, I would say use natural vitamin E, but you shouldn't use it if you are currently using blood thinners.
Andy

All we are saying is give thals a chance.

 

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