Alpha Thalassemia Hemoglobin H (Hbh) Diagnosed During Newborn Screening

I hope you can help me out. My daughter was diagnosed with Alpha Thal Hbh disease during her newborn screening. We're done with Hemoglobin Electrophoresis and the electrophoretic pattern of FA+BARTS is 17.1%, which I cannot understand. Hemoglobin is 18.3 gm/dl. According to the interpretation, the result is highly suggestive of an Hbh disease.

Results for her DNA Analysis will come out by February. Is there a possibility that it will not be considered as HBH disease? Will the results still change?

My daughter who is turning three months old this month is very healthy and is purely breastfed. I am still hoping that it will cure her or at least help avoid diseases.

Looking forward to hear from you soon.

Frances,

I will repeat what I said in the email sent earlier today.

When Hemoglobin barts is over 15%, it calls for further testing, as is being done. The DNA test will be conclusive.

"Newborn screening ... offered by several states/countries may detect Hb Bart in the newborn with α-thalassemia (see National Newborn Screening Status Report; pdf).
Notes: (1) Newborns with concentrations of Hb Bart greater than 15% need further evaluation (i.e., clinical and hematologic evaluation and molecular genetic testing), as they may develop HbH disease. (2) Low concentrations of Hb Bart (1%-8%) are indicative of the carrier states and usually do not need further evaluation. Reference ranges may very among laboratories performing newborn screening."

The child may have HbH. This is not a transfusion dependent condition in most cases, but the child will be anemic. The only universal recommendation for alpha thal is to take folate. It is best in the form of L-methyfolate. It can be started quite early in children if you can get it in liquid form. Folate is needed to build red blood cells and there is a high need in thalassemics. The immune system can also be weakened, so efforts to keep the child healthy are important. Nutrition is key, so a good diet is essential.

Thank you for your reply. I will try to send you the result of her electrophoresis via email.

I am sorry it should be Fa+Barts of 17.1%. Impression is highly suggestive of an Hbh, so I suppose this isn't final yet.

Is it possible for my child to have Hbh if I am the only carrier? I am not sure if I am the carrier but based on the symptoms, I think I am because I already had my gallbladder removed when I was 22, and the hematologist said that I look pale but never had blood transfusions ever. I am not a sickly girl either. I doubt my husband has as he is red and very healthy.

If you can help me out, I'll send you the result of my baby's electrophoresis. I tried showing this to a Pedia-Hema but I ended up not listening to him because I felt being tortured. No words of encouragement from the Hematologist, all he is saying are all negatives like frequent blood transfusions etc.

I am also exclusively breastfeeding my daughter because I believe that it will help boost her immune system. I also make sure to have her vaccinated on time.

Will it help if I'll be the one to take Folic Acid? I am not sure if it will be passed on thru my breastmilk.

Thanks.

Frances,

HbH means 3 out of 4 alpha genes are deleted. The child gets 2 of these genes from each parent, so for it to be HbH, one parent would have to be an alpha thal with 2 genes deleted. The other parent would most likely be a one gene silent carrier, and probably be unaware that they are a carrier. Alpha thal is not easy to determine in adults without doing DNA testing. If the child does have HbH, both parents are carriers.  Alpha carriers quite often have few if any symptoms and don't know they are carriers.

Breastfeeding is best and does help the immune system greatly. You should take folate because you are a woman of child bearing age. Right now, the baby's Hb is good, so it isn't immediately urgent, but it will be if the child does have HbH.

Gallbladder problems are not uncommon in thal minors because there is a higher than normal turnover of red blood cells and this creates bilirubin, which can lead to gallstones.

Until the DNA test comes back, you won't know for sure. Up to 15% Hb barts is usually 2 gene carrier status. Over 20% is almost certainly HbH. In between 15-20 requires further testing.

It  gave me a relief. Thank you, Andy and thank you for explaining it in layman's term.

So, would you not suggest my child to undergo another CBC test unless we get the result of the DNA Analysis?

My baby is perfectly healthy and has good complexion. In fact, my husband, our caregiver and I are all down with a flu since December 31, and my baby never caught it. Not even cough or colds. I still continue to nurse despite being sick.

I told my husband to request for a CBC with smears (just like what I did before) and have it read by a Hematologist to rule out Thal in him. I hope that he will turn out negative of Thal. If he is negative of Thal, is it safe to say that ny baby doesn't have Hbh?

Hemoglobin barts disappears shortly after birth, so it makes it difficult to diagnose alpha thal carriers once they are adults, unless a DNA analysis is done. I don't think the blood smears would be of much help. A CBC for each of you should show a slightly low MCV for a silent carrier, and a bit lower for a 2 gene alpha minor.

Will you be able to interpret the result of my CBC?

HB - 127 g/l

MCV - 85.2fl
MCH - 23.0pg
MCHC - 250g/l

Thank you for giving us hope.

Hello Frances,

Your little angel is so cute

Hope she will recover from all barriers.

Hello Frances,

Your little angel is so cute

Hope she will recover from all barriers.

Thank you, Lokkhi maa. I've read that your child has Thal too. What type?

I am still hoping and I am very positive that my baby doesn't have this Hbh disease.

Frances,

Your MCV falls in the range of a silent carrier, but the MCH falls in the range of a 2 gene carrier. Your MCV is high enough where it wouldn't automatically trigger more testing if seen in a CBC. Again, we see why DNA testing is the only conclusive test for alpha thal in adults.

The fact that your child is doing so well at this point is a positive. Often, signs of HbH have been seen by 3 months.

Hi, Andy

Thanks again for the very helpful information.

My baby has just turned 3 months old today. What are the signs to watch out for?

The things you would first notice would be pale skin and listlessness and possibly a poor appetite. Right now, the child looks great. 

Hello Andy,

If possible please give some idea about HBH ? Is it like thalassemia?HBH patients also need transfusion or manageable by taking medicine?Is it also for parents carriers?

Hello Frances,

Don't worry.Everything will be fine.Its great your baby has good appetite.

My baby is 27 months old and she needs monthly transfusion which is not tolerable Frances..

Take care.

The things you would first notice would be pale skin and listlessness and possibly a poor appetite. Right now, the child looks great. 

This is noted. I still do not want my baby to experience any of these. I am just hoping that my husband or I will be negative of Thalassemia. If it happens, then we are sure that our baby is safe.

Thanks for all the information. Will have my husband do the blood works first and will update you very soon.

Hello Andy,

If possible please give some idea about HBH ? Is it like thalassemia?HBH patients also need transfusion or manageable by taking medicine?Is it also for parents carriers?

Hello Frances,

Don't worry.Everything will be fine.Its great your baby has good appetite.

My baby is 27 months old and she needs monthly transfusion which is not tolerable Frances..

Take care.

Hi Lokkhi,

Hbh or Hemoglobih H is a type of Alpha Thalassemia. As what Andy mentioned, it involves 3 gene deletion. Meaning only one gene is working out of the four. Based on what I have read in Google, this may cause moderate to severe anemia that may require blood transfusion. According to Andy, Hbh, on the other hand, is not transfusion dependent. You just have to avoid getting sick or having infection as this may affect the red blood cells. Also, the immune system may be weak that's why we have to take extra care.

In my case, the best thing that I can do right now to keep my baby safe is to exclusively breastfeed her as breastmilk is complete in nutrients. I just started taking folic acid as I've read that it can pass thru the breastmilk. Therefore, my baby will also benefit from that.

Please keep your baby safe. It breaks my heart to know that your little one is experiencing it.