Sickle Beta Thalassemia?

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Sickle Beta Thalassemia?
« on: June 02, 2015, 03:55:58 AM »
Hi I need help, I am so confused! ??? 
My son's newborn screening came back as having Sickle Cell Anemia (SS). My husband and I both got a HPLC done and my husband's showed that he has the Sickle Trait but mine was negative for the Sickle trait but I had elevated A2 levels and slightly elevated Hgb F, suggesting Beta Thal Trait. When I showed the pediatric hematologist, him and the nurse basically said it was impossible that my son had a thal trait, but didn't explain why not and didn't really seem to know much about thalassemias. I'm currently searching for another hematologist but in the mean time I am trying to get as much info as I can.

My son's HPLC @ 9 weeks showed:
Fetal Hgb: >40.0%
Hgb A2: 1.0%
S Hgb: 16.2%
A Hgb: None

His Hemoglobin on his CBC was within normal range as well as his MCV. The only thing that was out of range was his RDW, which was High.

My HPLC showed:
Hgb A: 90.5%
Hgb A2: 5.9%
Fetal Hgb: 3.6%

My CBC shows low MCV, MCH and high RDW.

I understand the hematologist may be looking at my son's A2 levels, but what else could it be?

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Offline Andy Battaglia

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Re: Sickle Beta Thalassemia?
« Reply #1 on: June 02, 2015, 02:26:34 PM »
You almost certainly carry beta thal minor. It is the only reason the HbA2 would be elevated and along with the high HbF and low MCV, only beta minor would be suspected.

Do you have the newborn screening results? I really doubt the baby inherited beta thal going by what you have been told, but would like to see the newborn electrophoresis results. If his HbA2 remained low, it would indicate that beta thal is not present.
Andy

All we are saying is give thals a chance.

Re: Sickle Beta Thalassemia?
« Reply #2 on: June 02, 2015, 03:58:03 PM »
The Newborn screening results that I received from the state a few days after he was born didn't have exact percentages but said his electrophoresis pattern was just F>S, no A or A2.

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Offline Andy Battaglia

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Re: Sickle Beta Thalassemia?
« Reply #3 on: June 03, 2015, 02:23:37 PM »
I don't want to comment further without test results of the baby. A complete lack of HbA and HbA2 would mean the child also carried beta thal. If the child carries beta thal as well as sickle cell, it does lead to a sickle cell anemia condition.
Andy

All we are saying is give thals a chance.

 

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