Hemoglobin H disease

Heeeeey!  I found the document!  :D

http://www.thalassemia.com/Hb_H_disease.pdf

^ That's a pretty handy 'guide' of sorts to HgH Disease and it's complete with a list of things to avoid and signs of severe anemia. 

Hi Zadkhi,

Thank you very much for your reply. It helped alot. I printed it and gave it to my daughter and she read and reread. Early days for her to take it all in but she felt better after reading your story. All sorts of things go through your mind and to have some information from someone with the same conditions helps,

The baby who is 8mths now just had another blood test due to his not eating well and looking unwell. His Hb has dropped slightly to 8.6 but within the normal range, hes lost weight and has been put on vitamins. No iron anymore but also no folic acid either. They have given him small dose of anti biotics as precaution in case hes not well. Im not really happy about his health as he just doesnt want to eat. I have just had the two of them for the weekend and the baby is not interested in eating, he just doesnt seem interested. I have tried every hour just to get him to take a spoonful or some milk which he does but Im sure this should be investigated further.

The older boy is going down with a cold at the moment but we are lucky in the fact that he eats well and eats healthy and is funny,strong and has a lovely personality.

 Both my daughter and myself were very touched at the constant mention of your Mother and her love and care for you through the years. This is a very important part of any person being ill, the love and support of those around you give.

I may come back to you with other questions from time to time. Thank you once again. Please keep well and be happy.

Leandra

Hi Andy,

Thank you for your reply,

I am reading constantly and trying hard to understand their condition. When they told us about the mutation we asked for more test done on my daughter and her husband but they say it doesnt matter because they have what they have so its irrelavant about the Alpha and Beta thing. My daughter is still going through the process of acceptance and she is finding it hard to come to terms with this. I feel that we should know for sure what happened. The hemotologist was very nice and tried to explain but for me I want to know if my daughter has 2 alpha missing and my son in law has the trait so my grandchildren have 3 alphas missing. so how does it work. My daughter Hb is always around 10 and is tired and looks pale from time to time. My son inlaw looks fine and his Hb is around 13 and he is beta. Do you think we should find out exactly what the problem was. If you say there could be a  problem with Alpha and Beta then we should be able to find out.

I am concerned because my oldest grandchild who is five we have only just found out and apart from him looking unwell for a short time he seems fine but the baby was checked because he looks unwell and not growing well. I know that 2 people with same condition can have different symtoms. How can we know what we are dealing with unless they do the proper tests.

Zadkhi has the 3 gene deletion as do my grandsons, so why is important to know exactly what was passed down. Will it help to treat the conditon. The doctors here say they will only need to have a blood test every six months and take folic acid. The only thing we need to be careful of is infections and get them checked early if they are ill. Nothing else can be done. I have read what Zadkhi has said and understand more. The babies Hb has just dropped slightly but his iron is fine but because hes in the range of HG H then thats ok, so the doctors say. Im sorry but Im the sort of person that needs to know everything and make sure we are doing all we can to keep them well but I suppose its so common here its normal. Maybe its early days. One thing for sure if they get ill I will be questioning myself as to why I didnt push more for information. Can you understand what I mean.

Im worried and also worried for my daughter who as of yet not  really understands that there are lots of things we should be careful of. Im not saying the doctors are not doing their job but there is alot of Thalassemia here and they treat it as normal but to me its not. Until now I didnt realise how many people it effects and in Cyprus nobody talks about it. They call it Stigma here, when i looked it up in the dictionary I was quite upset that is means " A mark of shame" Wheres the shame in being ill.

Sorry bit angry, worried and confused.

Hi Leandra,

Do you know if the hemoglobin levels of the two boys have been dropping? I am concerned about the younger being so uninterested in eating and whether his development is not what it should be.

HbH is compared to beta thal intermedia because its symptoms can be so similar, including covering a wide range of conditions. Just as with beta intermedia, patients may manage with a low Hb level or may become transfusion dependent. I think there may be significance to whether or not the children also carry the beta thal gene. In the past it was assumed that beta and alpha together would not cause problems, but more recently there has been some suspicion that the combination can lead to symptoms of intermedia. Even though the two sets of genes have nothing to do with each other, it may be a cumulative problem where the the effects of the two types of thal can lead to a condition with symptoms of intermedia. We hear so much about beta thal minor causing significant problems, so it does make some sense that adding that to HbH would make the situation worse. I think they should both be tested to see if beta thal is also present. Current progress in understanding these genes and the different combinations is being made at a rapid pace, and what may not seem to be important based on earlier assumptions about thal may prove to have great importance in understanding and treating thal. The doctors don't have to act like yesterday's knowledge is ultimate and that no progress in understanding can be made. It is being made and I feel that any doctor involved in any disorder or disease treatment should always be willing to keep up on all the latest developments in their fields. Two years ago I was hearing about there being over 100 known thal mutations. Now there are over 200 known and more being discovered all the time. I recently ran across an older article that talked about only 30 known mutations. This is how fast change is happening in understanding. Doctors have to be willing to alter their thinking as they see cases that don't fit the mold. There has to be an explanation for the younger child's state of health and it needs to be found. His Hb levels should be regularly monitored for any signs that they are suddenly dropping. You are right in demanding to know everything you can about the boys condition. What may not have seemed relevant in the past may now have some bearing on understanding and treating them.

I am very dismayed to hear that in Cyprus, where the thal gene is found in over 15% of the population, has such backwards attitudes towards thals. I've encountered this same thing so many times, and it is a similar situation in Maldives where 18% carry the thal gene, yet thals are not very well accepted by their society. The real shame is in the attitudes of those who feel that thal is a stigma. Ongoing public education programs are essential to teach the public that thal is not a stigma and thals are no different from anyone else and and should be given the same opportunities in life as everyone else.

I just wanted to give a head's up and tell people that I'm not ignoring or abandoning this thread or forum or anything.

I deal with cyclical depression from bipolar disorder and I've been struggling with that a bit lately and I would rather make a post when I'm not as affected by my emotions.

Hi Zadkhi,
Nice to read from you and I do undestand first hand what you are talking about because I have the same experiences.
I also struggle with depression and it can be tiring ,
Thank-you for that article on Folic acid .
Getting referrences from this site I took it upon myself to commenced on folic acid.
you are not alone we are always here for you .good luck .
Kathy

Hello Andy,

Sorry havent been on for a while many things going on. Just updating you on whats happening. Thankfully baby jason is eating and growing well, hes still small for his age but at the moment he is fine his HB is still around 8 but hasnt fallen. Chris the 5yr old has been poorly, flu and normal childhood infections but his HB stays around 8 also which is good. The older child get tired alot more than before but I feel hes beginning to understand that he has to rest even though he doesnt always want to but in the end he gives in. the baby is still having treatment for his plagiocephaly and is doing well, tough going back to fro to the UK but its worth it.

I wonder if you can clarify something for me as Im a bit confused again. I did say before in Cyprus people dont like to talk a bout thalassemia and its been difficult but my daughter persuaded her in laws to have a blood test to see what type of thalassemia they have as the doctors are assuming my son in law is a silent carrier of A because of the children. The results came back that her father in law has no trait, mother in law is Beta but no sign of Alpha, the only problem is my son in laws sister is Alpha. Weve been told this is not possible and its been suggested that there is a ? concerning parents. Could is be possible that the test has not been done properly, if the doctors testing didnt know that there was a possibility of a silent A trait, would they have found it or do they need to look for it? This has also been suggested. Something is not right here and we need to know exactley what the possibilities are as my daughter is thinking of having another child and we need to know the possiblities of what kind of thalassemia this child could have and is it possible for this child to be Thalassemia Major. My daughters motherinlaws nephews are thalassemia major B and have blood transfustions, this is something we found out recentley. Can you give me any answers from what Ive just said. The doctors here say wait for the 4mth test and if its a big problem you terminate and try again. What kind of solution is that. I would appriciate any feedback.

Take care all.

Leandra

Silent carrier alpha thalassemia trait is not easily diagnosed and could explain why the doctors have said that neither of your son-in-law's parents carry the alpha trait even though their daughter carries it. Obviously if the daughter carries it, one of the parents also must carry it.

From http://www.thalassemia.com/alpha_thal.html

The Silent Carrier status is characterized by three functional genes that code for the production of alpha globins (-a/aa). Outside the newborn period, it is not possible to make this diagnosis by conventional methods. There is overlap between the red blood cell indices of these individuals and normals, although the MCV may be slightly lower. The silent carrier will experience no health problems in his/her lifetime. This carrier state is diagnosed by deduction when a 'normal' individual has a child with Hgb H disease or with microcytic anemia consistent with alpha thalassemia trait.

From http://sickle.bwh.harvard.edu/thalover.html

The loss of one gene diminishes the production of the alpha protein only slightly. This condition is so close to normal that it can be detected only by specialized laboratory techniques that, until recently, were confined to research laboratories. A person with this condition is called a "silent carrier" because of the difficulty in detection.

The combination of alpha and beta thal sometimes leads to an intermedia-like condition but cannot cause thal major. If there is only one alpha gene involved, it is unlikely to have much impact on the child and the child will most likely exhibit minor characteristics if he or she carries the beta thal gene. As long as only one parent carries the beta gene there is no danger of a major in future births.