I am here on behalf of my baby son.

Hello all,

My name is Mai and my nationality is Hmong (Asian minority ethnic group from Southern Asia) and I would like to know information about Hemoglobin H Disease, but what I want to know more is how genetic works. I am very confused right now.
I am relieved to find people that has Hemoglobin H Disease to share their stories here because as for now I am in the state of shock that my baby boy has Hemoglobin H Disease   and he is only 7 weeks old. The newborn screening shows that he has 15% barts and when his predictrician explained it to me I was puzzled and confused about all these new information that she given me. So my husband and I had to take my baby and us to do a special test and draw all three of our blood to check on our DNA to see which parent is the carrier of Alphathalassemia or who has it. I actually got the result in yesterday and the doctor confirmed that my baby has Hemoglobin H Disease saying that "laboratory result revealed a southeaster asian, 2 alpha globin gene deletion and a single alpha gene deletion." With a 15% F A Bart. She then told me that from the blood test of my husband and I, my husband has an alpha deletion results in A2 of 2.3 % and normal FEP in which he suggestive that he is the silent carrier. But for me, I am normal and just need to take iron supplement because I am anemic of FEP 189 and normal A2.

So here is the confusing part. Since I been researching about Hemoglobin H Disease, information says that child that has Hemoglobin H Disease comes from parents that had genetics of alphathalassemia. In order for my son to have Hemoglobin H Disease, 3 of his alpha gene is not working. But how can that be possible when my husband is only a carrier with 3 working genes and I am normal with 4 working genes? How is all these genetic calculated? Or do we need a deeper blood DNA test if my husband has the disease and not a carrier or do I have the disease or carrier? It is so confusing. Help me out here please. I want explanation.

Other than that, right now my baby boy is recovering from his fever. I don't know what caused his fever but he had a high fever for the past 2 days. I was scared that his blood count will be low..and doctor did say it was a little low but he should be fine. Anyway, I am looking forward to hear some replies. Thank you.

Welcome to Thalpal. Unfortunatey I do notknow much about HbH so will defer that to other members.

Hi Mai,

Your experience demonstrates why DNA tests are needed to properly diagnose alpha thal carriers. Many carriers show little to no sign of it in the electrophoresis test. For a one gene silent carrier, it is especially necessary. Obviously, both parents have to be carriers for the child to be HbH.

HbH can manifest as very mild to moderate, but usually the patient will not require transfusions. Because they are deletions and not mutations, you do not have to worry about the more serious forms of alpha thal that arise through mutation of the alpha genes. Folic acid is universally recommended for alpha thals. I would ask you to make sure you truly are iron deficient by undergoing an iron panel, as iron deficiency cannot be determined by Hb level. Many thal carriers are erroneously prescribed iron when it cannot help.

Thank you Bostonian_04 and Andy.

So by what you are saying Andy, due to my iron deficiency, they cannot determine what my Hb level is, and if I have alpha-thal?

Due to the laboratory result they confirmed that my baby has Hemoglobin H Disease and it has to be from two parents. Since it is only my husband who is the carrier and I am just normal, how can it be possible that my baby has hemoglobin h disease?

Both parents are carriers, one is a one gene deleted carrier and the other is two. This is definite since the child had the DNA test. The true status of the parents can only be determined by the DNA test. The hemoglobin electrophoresis test is inadequate for diagnosing the carriers. You are a carrier, regardless of what you have been told. There is absolutely no possible way for a child to have HbH unless BOTH parents are carriers.

How was your iron deficiency determined? By Hb only, or did you have an iron panel done? You need results for serum ferritin, serum iron and total iron binding capacity. Without these tests, your doctor is only guessing and possibly prescribing treatment with iron when it won't help.

wow I did not know that I am a carrier. My son and I and my husband went to talk with the specialist and was told that I am a carrier too. I was shock, because I do not know any of my family history to have any anemia sort of thing. Yet I remember my mother being very sick in the past. Well now I know how this is, and I will never let this sort of disease to scare myself and child life out. Thank you so much for this awesome forum site.

Many alpha carriers are totally unaware that they are carriers. Often, a single gene alpha carrier's blood tests will look rather normal. Only upon further investigation is the true status discovered. HbH is normally a manageable condition. The child will be anemic but should not require blood transfusions.