Recent diagnosis of Beta Thal minor- Looking for infor

Hello!   Amie here.  I am a 41 yr old female born and raised in the US and recently diganosised with a Beta thal minor form called Hemoblobin Kokomo.   Currently 32 weeks pregnant with my 4th child.  I do have older children and this pregnancy was a surprise and have a difference of  15 yrs  between my youngest now and this baby.  Though I showed signs with all the prior pregnancies;  my first  one I was mis-diagnosis with first leukamemia and then basically an unknown auto immune disorder that they just told me this is how your body reacts when getting pregnant.   I  did then and throughout my first two pregnancies see a hemotologist  assoiciated with a top medical university.  They actually have a website on Cooley Anemia.    Think Dorothy and Toto. 

 This diagnosis explains a lot through out my life and actually am now glad my  current OB/GYN didn't listen to my explaination of what was happening and about to happen to my hemoglobin levels.   

According to my hematologist now the form I have is fairly rare and he and the majority of his colleuges had never heard of it.  One had but knew little.  Curious if there is anyone out there with this form that can give me some insight to share with my doctor.   Also currently taking high doses of folate acid and a liquid b complex.  Any other suggetions?   

Thanks~   

Welcome! Hope you find the answer you seek.

Hi acv1970,

There is not a lot of information about Hb Kokomo (HBB:c.223G>A), but it does appear to be a fairly mild mutation. It's surprising that it was found because the blood indices look normal and not at all like thal minor, so most doctors wouldn't even be looking for any hemoglobin disorder carrier state and only an experienced lab tech would pick up the abnormal hemoglobin in a hemoglobin electrophoresis test. Was this found through a blood test or was a DNA analysis done?

http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=1249

Clinical presentation       
hemolytic mild Anemia

Laboratory findings
Hb X 41.8 % of total Hb
Reticulocytes 2.1 - 2.9 %

A hemolytic anemia is one where the red blood cells break down at a faster rate than normal, but this is a mild anemia. The higher than 40% Hb Kokomo of total Hb may have some effects that would be related to the relative oxygen affinity of Hb Kokomo compared to normal hemoglobin, but I don't know if this information is available. An example of this is found with HbF, fetal hemoglobin which has a higher affinity for oxygen than normal hemoglobin. This property actually makes the oxygen in HbF less readily available.
I found one other mention of Hb Kokomo at http://www.haematologica.org/content/93/9/1380.full?ck=nck#F1
Table 1 attached to that article show those with Hb Kokomo as having higher than normal hemoglobin levels, but this was based on only 3 cases because this is quite rare. Have you had any sign of low hemoglobin in your life like low Hb or hematocrit in blood tests? I hope your case will be reported by the hematologist to the PSU database.

The one supplement I recommend to pregnant thal minor women is natural vitamin E. Anytime there is abnormal hemoglobin and hemolysis, there will be more of a chance of clotting between the uterus and placenta, even though it isn't established by any studies, we have observed here that there is a high incidence of miscarriage in thal minor women who report their stories here. Vitamin E is an antioxidant and has mild blood thinning properties, both of which help counter the effects of hemolysis. Good nutrition during pregnancy is key and the other vitamins you're already taking are also recommended.

Andy-

It was found through DNA testing.   My Ob/GYN ordered the test for Thalessima and that is when it was discovered. 
  I have always been on the low side of what is considered  a "normal" hemoglobin.   I know right before this pregancy I had a overall physical and then my hemoglobn came back with me slightly anemic. 
 With my prior pregancies I got down into the 7 ranges with my boys and into the 9's with girl.  I also have a sight leuktosis reaction that is why the first initnal diagnosis with my oldest son waschronic myleiod leukamiea .    They did not transfuse me at that time even though it was discussed.  They are discussing that as a possiblity for this labor and delivery and if my hemoglobin falls below 8.   Currently it is 8.4 or as of the last test results they told me.   

I can tell you that my hematologist tells me I am 56% good hemoglobin and 44% bad and yes that it is oxygen depriving.    Does this make sense to you?  I am not iron or vitamin deficient.

I will talk to him about reporting it to the PSU database.   He states I will need perodic check ups after the baby is born, but we are currently dealing with me in the state I am in now and me after.   

Thank you for all your input.   I look forward to being an active memeber of this community and the more I find out the more  about this form the more I will share. 


Thanks,
Amie

Yes Amie, your doctor answered my question. The 44% that is Hb Kokomo is not as good for hemoglobin transport as is normal adult hemoglobin. The problem with this is it makes your total Hb look higher than its true potential really is, because over 40% of your hemoglobin is not as efficient as the HbA. So at face value, you may appear slightly anemic to normal but the practical value is less, leading to anemia that can't really be measured by looking at your overall Hb level.

Thank you Bobby.  I look forward to being a part of this community.