Alpha Thalassemia Hemoglobin H (Hbh) Diagnosed During Newborn Screening

There are more severe forms of 3 gene alpha thalassemia that are caused by mutations, and not deletions. These types, like constant spring, can be transfusion dependent. Those with HbH do not transfuse regularly, but may occasionally need a transfusion during illnesses. Breastfeeding will give the child's immune system the best foundation.

How does mutation work and how will you be able to identify if it's mutation or deletion?

So, does it mean that deletion is safer than mutation?

Thank you.

Deletions are easier to see in a DNA test because the gene is missing. Deletions mean less alpha globin is produced. When there are two deletions, the person may have mild anemia. Alpha mutations are defects in the gene but the gene is there. Not all, but some alpha mutations can cause a transfusion dependent condition. Alpha thal minors with the more severe mutations usually are quite aware that they carry alpha thal because it affects their health. In some alpha mutations, there are 3 genes instead of two in a cluster. The added gene means too much alpha globin is produced and it creates an imbalance with beta globin. The extra unmatched alpha globin forms tetramers. These cause havoc in the blood, damage red blood cells and create great oxidation. People with deletions often have no idea they carry thal, while those with triplicated genes will usually be aware that they are thal carriers.

Hi Andy,

My husband had his CBC taken already and here are the results:

HB - 160 g/l

MCV- 75.8 fl
MCH - 22.9pg
MCHC - 280g/l

And mine are:

HB - 127 g/l

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

Will you be able to determine in a way if we have thalassemia?

Thank you!

He is thal minor. I cannot say for sure, but he is likely the two gene carrier and you are the one gene carrier (based on these tests). MCV is lower in 2 gene carriers than in one gene carriers.

Hello, Andy

It was confirmed by my baby's Pedia-Hematologist that I am a carrier and my husband has trait. Therefore, he confirmed that my baby has Hbh. Based from what he explained, Hbh is not at all life threatening and may not need transfusions at all. He also mentioned something about being non transfusion dependent. Are all Hbh cases NTDT? Also, by the time my daughter is 10-12years old, her ferritin levels need to be checked. If high, then she may need chelation. Is chelation a safe process or is there a possibility that she may not need to have chelation? Also, does the spleen of an Hbh patient gets larger than normal? What are its implications?

Relatively, the doctor assured that Hbh doesn't need any treatments. Infections must be avoided and we must keep our baby's inmune system healthy.

Thanks.

Hello Frances M,

What is your little beautiful angel name ??

May she always be happy with her healthful life... 

Hello Frances M,

What is your little beautiful angel name ??

May she always be happy with her healthful life... 

Hi Lokkhi Maa,

My little angel's name is Kayden Ashley. She'll turn 4 months by February.

My baby's very healthy and she is growing well.

Frances,

Those with HbH usually do not need transfusions, although it may be necessary during a serious illness. HbH does not cause iron loading as badly as beta thal intermedia, so chelation is not usually needed until later in life. Ferritin should be checked annually and if there is any indication that iron loading is taking place, a liver MRI should be done to see if there is any iron load in the liver. If so, a chelator will be started, but again, this probably won't be seen before adulthood.

The main treatment is folate. The best form is L-methylfolate. A nutritious diet is also essential. Iron supplements should never be taken and iron enriched foods should be avoided.

Feeling so much happy and thanks to Allah that she will not need transfusion...

May Allah always keep her safe with all of child's....