Lost???

 I am from the Bahamas and was told that my daughter has alpha thalassemia. None of the doctors here can seem to tell me exactly what this is. How she got it? Am I a carrier? What effect, if any, would it have on my future kids? Can some one help me?



P.S I am pregnant with my second child.


 

Hi thal_pea,

There are 4 alpha hemoglobin genes and alpha hemoglobin is separated into 4 categories.

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

Alpha thalassemia occurs when one or more of the four alpha chain genes fails to function. Alpha chain protein production, for practical purposes, is evenly divided among the four genes. With alpha thalassemia, the "failed" genes are almost invariably lost from the cell due to a genetic accident.

(i) 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.

(ii) The loss of two genes (two-gene deletion alpha thalassemia) produces a condition with small red blood cells, and at most a mild anemia. People with this condition look and feel normal. The condition can be detected by routine blood testing, however.

(iii) The loss of three alpha genes produces a serious hematological problem (three-gene deletion alpha thalassemia). Patients with this condition have a severe anemia, and often require blood transfusions to survive. The severe imbalance between the alpha chain production (now powered by one gene, instead of four) and beta chain production (which is normal) causes an accumulation of beta chains inside the red blood cells. Normally, beta chains pair only with alpha chains. With three-gene deletion alpha thalassemia, however, beta chains begin to associate in groups of four, producing an abnormal hemoglobin, called "hemoglobin H". The condition is called "hemoglobin H disease". Hemoglobin H has two problems. First it does not carry oxygen properly, making it functionally useless to the cell. Second, hemoglobin H protein damages the membrane that surrounds the red cell, accelerating cell destruction. The combination of the very low production of alpha chains and destruction of red cells in hemoglobin H disease produces a severe, life-threatening anemia. Untreated, most patients die in childhood or early adolescence.

(iv) The loss of all four alpha genes produces a condition that is incompatible with life. The gamma chains produced during fetal life (see Hemoglobin Overview) associate in groups of four to form an abnormal hemoglobin called "hemoglobin Barts". Most people with four-gene deletion alpha thalassemia die in utero or shortly after birth. Rarely, four gene deletion alpha thalassemia has been detected in utero, usually in a family where the disorder occured in an earlier child. In utero blood transfusions have saved some of these children. These patients require life-long transfusions and other medical support.

Do you have anymore information about your daughter, such as hemoglobin level, or did the doctor give you a classification of alpha thal? One or both parents have to be carriers for the child to carry the alpha thal genes. This also means your new baby could also be a carrier. How old is your daughter and how is her health?

Hi Andy,

Well i found out about my daughter thru a screening that is mandatory in the U.S for all newborns. No futher testing has been done on her as i live in the bahamas and not much is known about it here. My daughter is now 8 and she is real thin for her age. Her appetite is not good and she has to be forced to eat. She can only eat small amounts of food or she throws up. She also sleeps alot. She seems to have alot of energy but she can only play for short periods of time and then shes exhausted. I know she has had problems with catching infections and her hair falls out easy. She also has these werid dry, flakiness in her hair and no matter what i try it only gets worst. This is all i know at the moment as she stays with her grandparents on another island right now.

Quote:
"I know she has had problems with catching infections and her hair falls out easy. She also has these werid dry, flakiness in her hair"

I had problems with my daughter's hair too.  What do you mean by "dry flakiness in her hair".  Does it look like small white tubes around each hair? My daughter had this and her hair started falling out.  I bought a special shampoo (containing ketaconazole) for her and also I applied Whitfield's ointment to her scalp only where these small things appeared. I also had to cut her hair.   However it may not be the same thing for your daughter.  It would be better if you could consult a dermatologist and determine what she has.


As for catching infections my children stand first in the line.  For nutrition, the feeding time is hellish.  They do not want to eat and my daughter was vomiting after each feed as soon as she reached 6 mths old.  There exists  no food nor cakes that they like.  I also have to force them to eat and they are still underweight. 

Jade

Yep, around each each hair. It's more in the center of the hair than anywhere else. I have to get her grandparents to take to have it checked out.


Thanks for the advise.