Trait vs. Disease.

When FPD got home from Ghana, he handed me a copy of GhanaGirl’s medical exam results. On the results was a blank next to Sickle Cell, in the blank were the letters POS. Positive. My heart sank. FPD said “I didn’t tell you about it in Ghana, because it wasn’t even up for discussion, she’s our little girl now, no matter what”. Then he went on to tell me that there is probably no better person in the world to raise a child with Sickle Cell than someone who started a large comprehensive Sickle Cell clinic at our local large children’s hospital. I told him that I would have rather she tested positive for HIV. Sickle Cell is a disease that is accompanied by crippling pain episodes, often leading to organ failure. These kids miss so much school from pain episodes and other medical issues that I have yet to see one of my kids graduate from high school. Most kids in Africa with Sickle Cell die before the age of three from opportunistic infections. All this flooded through my mind as I thought of my bouncy, happy little girl. Then I saw it…

As I read down the paper I saw two little letters that saved GhanaGirl from ever having to know any of this…A.S. GhanaGirl carries the trait for Sickle Cell, but doesn’t have the disease. I thought I would share how I know this with everyone out there rather than having any other poor parent panic like we did.

It is estimated that 1 in 10 African/African-Americans carries the trait for Sickle Cell Disease. To test for Sickle Cell doctors order something called a Hemoglobin Electrophoresis. This is a blood tests that separates out the different types of hemoglobin in the blood. When you are born you are given one gene for hemoglobin from your father and one from your mother. Hemoglobin is the cell in blood that carries oxygen to vital organs. Normal hemoglobin looks kind of like a donut. It bounces through your veins, inside of your blood with no problem. Sickled hemoglobin clogs up the works with its odd shape, plus it’s sticky and breaks easily. I included a handy image below. These sticky cells catch in the veins and lead to oxygen deprivation of the muscles and organs, causing pain and damage.

In my blood you would find two normal types of hemoglobin, one that was passed on to me from my father’s genes and one that was passed on by my mother’s genes. You would see A1 and maybe a little A2. In our GhanaGirl, one of her bio parents gave her the gene for normal hemoglobin, the A, but the other parent gave her an S. This is the sign for abnormal hemoglobin. Abnormal hemoglobin can also be indicated by the letter C, E, O Arab and a lot of others. An F stands for fetal hemoglobin, this is found in kids up to the age of 6 months while they still have some of their mother’s hemoglobin floating around. If GhanaGirl’s paper had read S.S. or S.C. or S.O Arab or S.E. we would have a problem. She would have TWO abnormal genes and would be diagnosed with disease. The severity would be unknown, it varies child to child, and the only possibility of a cure is a bone marrow or stem cell transplant. Scary. God was watching over our little GhanaGirl there.

The Diva also carries an S along with her A. One more sign that our two little girls were meant to be sisters. It is believed by most hematologists that just having one abnormal gene has no affect on day to day life. There have been RARE cases of death of people with Sickle Cell trait while doing things like deep sea diving or mountain climbing. So, as long as my girls don’t decide to try to reach the summit of K2, we’ll be ok. But, it is important that they’re both told, early on, that they carry this gene. If their partner carries a gene as well, they will have a 1 in 4 chance of having a child with disease. They’ll need to have a consult with a geneticist before either one of them decides to have a biological child. Now, they can commiserate about that consult together.

Hope this helps someone else! Pass it along if you would like.

–FullPlateMom,
who feels very blessed today.

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