Sickle Thalassemia - Hb Electrophresis

Hello!

I just got back from seeing the Paediatrician with my 6 week old daughter. I have beta thal minor while my husband has the sickle cell trait. Her HbEPG has shown sickling but they said they aren't sure about the beta thal trait. They said to wait till she is 3 months to do another test, which I understand why but waiting that long will be hard as Sickle thal diagnosis is essential Sickle disease. Anybody willing to interpret this HbEPG and FBC? I am from Australia so in Australian units

Hb A2 - 0.7%
Hb F - 67.4%
Hb S - 11.7%

Hb 115
RCC 4
Haematocrit 0.33
MCV 83
MCH 29
MCHC 29
RDW 15

Blood film - red cells show a few target cells, fragmented cells, microcytes and sickle cells

The report also said that due to the amount of Fetal Hb present it makes the possible co-inheritance of alpha thal hard to predict and it says that findings are suggestive of heterozygous Hb S (Sickle cell) - BUT there is not mention in the report of Beta thal?

Help I am going crazy and we don't see the paed or haematologist for another 3 weeks!!!!
Thanks

Was there a value listed for HbA? The values given add up to about 80%. Was the rest listed? This is extremely important if the child does also carry beta thal, as there is a big difference between beta+ sickle cell and Beta zero sickle cell. Presence of 20% HbA would rule out the beta zero possibility. The beta + type leads to a mild to moderate condition, and not the severe phenotype seen in beta zero sickle cell. The HbA2 is extremely low, and you mentioned alpha thal. This very much looks like an alpha thal deletion is also present. Alpha does moderate beta sickle cell, so if beta is present, it should be a milder version of the disorder. ..."fragmented cells, microcytes " could be the result of beta thal, but the HbA2 is so low that it does make beta more unlikely. When alpha and beta are both present, the HbA2 usually looks normal, instead of being raised, as it is in beta minors.

Because beta thal is possibly involved, you either have to wait until the baby is old enough to get an accurate electrophoresis or have a DNA analysis done to look at both alpha and beta genes. Keep in mind that beta zero thals will have no HbA and that HbF and HbS will total close to 100%.

Thank you so much, very informative.
There was no Hb A which I thought was a bit odd too.
My husband's haematologist did suggest when we saw her last that she is suspicious of an co-inheritance of alpha thal with his sickle trait because of his percentage of Hb S. Also no one on his family has ever been diagnosed with sickle trait or disease and they are all Kenyan. So they think maybe the alpha thal is what's let it go unrecognised. My husband was only diagnosed when we were pregnant with my first.

So at this point it looks unlikely that she will have full blown sickle thal from her initial screen?
I was worried she would be severely affected as I have not had genetic testing but because my beta thal trait
is due to Asian heritage based on epidemiology that said it may be beta thal zero.

Hoping we can dodge sickle thal and definitely makes me think twice about trying for a third child if we do manage to pass it on.

Thanks again

Yes, unless there is a mistake in the report, 20% of the Hb is not HbF or sickle. Also, the sickle percentage is rather low. If it was beta zero sickle cell, you would expect those two numbers to be reversed. The HbS would be the much higher value. I would say almost certainly that alpha is present due to the very low HbA2, but beta cannot be determined at this age.

Thank you Andy I will keep you posted on the outcome! It would be interesting to look over on of my husbands HbEPG's to see if there is a suggestion of Alpha thalassemia as well as his sickle cell.

Thank you so much!!