Confused from blood test

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Confused from blood test
« on: September 15, 2015, 08:24:47 AM »
We are planning to adopt a 6 month old indian baby girl.her blood test results have been perplexing. The CBC showed a heamoglobin of 10.4, mcv of 55, mch of 18, rbc of 5.8, rdw of 14, platelets 499, wbc of 14. The doctors initially suspected iron deficiency or thalasemmia. The iron results showed serum iron of 40, transferin ratio of 12.8 percent, serum total iron binding capacity of 399. The HPLC result showed HBa of 60 percent, HBs of 25 percent, HBA2 of 3.4 percent, hbf of 2.4 percent, hba 1 of 5 percent. The doctor said it is only sickle cell trait. We are however wondering why such low MCV?. Culd it be sickle trait with thal minor? Also if the two together as in beta thal with low mcv wuld hav ideally shown a high HBs and low HBa. Even if a thal, want to confirm if it shuld not be an issue with high HBa? Can hba levels change? Also is genetic testing advisable.

Thanks for any inputs

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Offline Andy Battaglia

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Re: Confused from blood test
« Reply #1 on: September 16, 2015, 05:12:32 AM »
If the child carried beta thal + as well, there would be a pattern of FSA, with only a small amount of HbA. The electrophoresis, supports only a diagnosis of sickle cell trait. Can you tell me what this is
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hba 1 of 5 percent
The first number says 60% HbA. Why is there a second listing?

The iron numbers conflict on whether or not deficiency is present. If poor nourishment was provided up to this point, iron deficiency might be an issue. However, if the child is also a carrier of alpha thalassemia, it would explain the lower than normal HbS (usually at least 35% in carriers) and the low MCV. DNA analysis can be done to check for alpha deletions. If an electrophoresis was done at birth, it would show some hemoglobin barts, but if it was done later, there may be no evidence of Hb barts, and only DNA testing can verify whether or not alpha is present. This would not present the problem that a coinciding beta thal would pose, but instead, the mild anemia currently seen would probably be the long term outcome. I suggest DNA testing to look for alpha thalassemia.

Both iron deficiency and alpha thal can explain the low numbers. In no way can it be sickle cell beta thal with this electrophoresis.
Andy

All we are saying is give thals a chance.

Re: Confused from blood test
« Reply #2 on: September 16, 2015, 05:49:31 AM »
Thanks a lot Andy for the quick response. Greatly appreciate it.

1. For the HPLC we had got a rough report which apart from the main hemoglobins mentioned a A1c window of 5 percent (which I incorrectly mentioned as HBa 1) and P3 of 4.4 percent. What r these two numbers and do they have any implications for the diagnosis?
2. Also the HPLC was repeated after a week in a different lab. The hba 2 moved down from 3.9 per cent to 3.5 percent on repeat. Other values also changed slightly hba from 59 per cent to 60, hbs from 23.3 percent to  25 percent, hba from 2.8 to 2.6 percent. Probably the hba2 of 3.9 and very low mcv raised doubts about beta thalassemia. Although I understand hba would be lower in case of beta thal from your explanation. What is FSA pattern? Is it F>S>A?
3. There was no hplc done at birth. We will do gene analysis for alpha thal. If it is alpha thal, would it be only up to two gene deletion or is a three gene deletion (hbh) also possible? Also would like to understand whether presence of thalassemia along with sickle cell trait would lead to any health complications / repeated sickness or infections in the baby?

Re: Confused from blood test
« Reply #3 on: September 16, 2015, 05:58:32 AM »
Also linked to the first question, why is HBa only 60 percent when HBs is only 25 percent? Even after accounting for hba 2 and HBF, wondering what explains the rest 9-10 percent?

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Offline Andy Battaglia

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Re: Confused from blood test
« Reply #4 on: September 16, 2015, 04:00:07 PM »
1) HbA1c is a useless measure in thalassemics. It relates to diabetes, but in thals, it is almost always elevated on tests, as variants hemoglobins will be included in the total, throwing off the result, rendering the test valueless. Keep in mind that this is included in the total hemoglobins.
2)Yes, FSA is in that order. There would be very little HbA if beta+ was present and no HbA if beta° was present. The low HbF at 6 months also suggests alpha may be present, as deficiency of alpha lowers the HbF total.
3)With an Hb of around 10, if alpha is involved, I would expect at least a 2 gene deletion and possibly HbH, A serious iron deficiency could give similar numbers, so the child's early nourishment record would be relevant.

The total of hemoglobins will include all that are seen, including HbA2 and what was mistakenly attributed as HbA1c.
Andy

All we are saying is give thals a chance.

Re: Confused from blood test
« Reply #5 on: September 16, 2015, 06:46:49 PM »
Thanks a lot Andy.
What r the health implications for sickle cell trait with two gene alpha deletion or HBH? Can it result in low immunity and health complications?

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Offline Andy Battaglia

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Re: Confused from blood test
« Reply #6 on: September 17, 2015, 04:30:42 AM »
Alpha thal tends to moderate beta globin gene disorders like sickle cell and thalassemia. But, keep in mind that iron deficiency is also a real possibility here. DNA testing will be definitive, but a one month trial of iron suppments would also be telling. If the MCV rises with iron, deficiency is certain.
http://www.wardelab.com/14-3.html
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Sickle Trait and  Thalassemia. Deletions of alpha-genes are relatively common, single deletions occurring in 30% of African Americans. Patients who are doubly heterozygous for sickle /apha Thalassemia will produce less HbS than patients with uncomplicated sickle trait. As discussed in the first article in this series, there are 4 alpha-genes on chromosome 16 and that deletion of 1, 2 or 3 of these genes results in progressive decrease in the amount of -globin chains available to couple with the Beta-globin chains. Because the normal Beta-globin chains combine better with the limited number of alpha-globin chains than does the variant  Beta S -globin, the percentage of HbS formed is proportionately lower than usual. With two or three alpha gene deletions, the percentage of HbS in the heterozygote can fall as low as 20%. A similar effect is seen in sickle trait individuals who suffer from iron deficiency.
Andy

All we are saying is give thals a chance.

Re: Confused from blood test
« Reply #7 on: September 17, 2015, 06:06:15 AM »
Thanks a lot Andy. Very helpful.

Indeed thanks to your and Lisa Cammilleris selfless service a lot of us are able to be better informed.

 

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