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Author Topic: 38 female homozygous g6pd alpha thal minor possible. Test results help!  (Read 2071 times)
himynameishuman
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« on: May 11, 2019, 02:11:43 PM »

I live in a rural area and it seems not to many doctors k omw about my bloodwork issues so I need some help. 


I am fully deficient with G6PD.  My latest HB electro test results  are
Hgb A2 2.3  (1.8-3.5)
Hgb F 0.0 ><2.0
Hgb A 97.7. >96.0
Erythrocyte count 4.95 (4  (4.20-5.80)
Hgb 11.5   low  (13.2-17.1)
Hematocrit 37.1 Low 38 5-50.0
Mcv 74.9low (80-100)
Mch 23.2 low (27-33)
Rdw16.1 high 11.0-15


These tests were done with quests  labs. The va uses labcorps werenim at and they tend to put normal way lower than the values here so my hgb always looks ok. Though I know it's not. Mcv and mch and most of the time mchc are ALWAYS low even when my iron and ferritin is normal.  Since I started going there in and being treated in 2010 my labs have been abnormal. Hematologist once blamed it on  my menstrual cycle but that is not heavy nor abnorma, he did this without even asking me about it. He said I just needed ro be careful of medicine bbn I take. That advice came to bbn little to late first of all but I have to avoid lots of things

Through my readings know it's not silent thal because  if  it was I wouldn't be anemic and it's not beta because it's not abnormal.   They fail to realize my experience iron goes up and down. I have taken floradix before  for plant based iron therapy because of the g6pd..

I have developed lupus because I was given to many antibiotics for years. Bactrim started the ball rolling. I think i react more strongly to oxidative stressors though due to g6pd and possible thal minor
 My son also has  alpha trait and none of his other 1/2 siblings have it though.

Please give me some clarification.

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Andy Battaglia
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« Reply #1 on: May 13, 2019, 09:00:35 PM »

A DNA analysis can confirm if it is, but it very much looks like it's alpha minor and with a child who is known to carry alpha minor, it just makes it even more likely that's what it is.
These all back up alpha minor; Low Hb, low MCV, low MCH, HbA2 on the low end, HbF of 0. The deficiency of alpha globin will cause both a low HbA2 and low to no HbF.
G6PD does not cause additional anemia to whatever anemia the thal minor causes. L-methyfolate is the main recommendation for alpha thal. B-12 can also be of value.

A consideration for both G6PD and alpha thal is favism, the sudden breakdown of red blood cells caused by exposure to numerous substances, such as fava beans, but also medications containing sulfur (Bactrim is one) and all sorts of chemical fumes. We have a list of some of these at http://www.thalassemiapatientsandfriends.com/index.php/topic,3410.msg34830.html#msg34830
Many alpha carriers find they need to avoid exposure to items on this list.


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Andy

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himynameishuman
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« Reply #2 on: May 15, 2019, 11:37:16 PM »

Thank you so much!  So if i am introduced to a toxin  that I shouldn't have been exposed to does it cause a stronger  reaction?   I remember before I started to investigate what was going I would pass out when I ate and then feel very disoriented and extra tired when I woke up.  It just seems I have stronger like I'm sensitive to everything
 
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himynameishuman
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« Reply #3 on: May 17, 2019, 07:37:51 AM »

What part of the DNA Analysis shows Alpha Thalassemia?  I have seen Beta Thal test results but not Alpha. Is it something I'd have to ask for specifically?
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Andy Battaglia
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« Reply #4 on: May 20, 2019, 07:02:11 PM »

It's best to keep a diary of foods and chemical exposures that affect you and avoid them. Over the years, I have heard of so many different sensitivities that people who carry thal have, that no list of offending substances will be complete, so it's best to observe and avoid.
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Andy Battaglia
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« Reply #5 on: May 20, 2019, 07:25:17 PM »

Yes, because they are examining a different chromosome and different genes, it requires specific testing for alpha. In addition, it takes different types of gene analysis to check for both alpha deletions and alpha mutations.

https://www.ncbi.nlm.nih.gov/books/NBK1435/
Quote
Molecular Genetic Testing Used in Alpha-Thalassemia

Genes 1   Test Method   Proportion of Pathogenic Variants 2 Detectable by This Method 3
HBA1 and HBA2   

Targeted common deletion analysis 4   ~85%
Sequence analysis 5, 6   ~15%
Deletion analysis 7   ≤5%
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All we are saying is give thals a chance.
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