Husband has Sickle Cell gene and didn't tell me
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Anonymous
No. That is not how it works. The variant hemoglobin cells LOOK normal under the microscope UNLESS they are "sickled" -- it's not a default shape. They undergo "sickling" and change shape, which is what causes the crises in those that have them. Otherwise the blood flows normally. If they were always in sickled shape, people with SCA would always be in crisis.
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Anonymous
The red blood cells aren’t always sickled (as they have to undergo sickling), but there are always SOME sickled red blood cells that are present in the bodies of those with sickle cell disease at any given moment. If you looked at their blood under a microscope, you would always see SOME amount of sickled red blood cells (whether they’re in a crisis or not). The number of sickled red blood cells present in the body INCREASES under certain conditions (like low levels of oxygen in the body). A sickle cell crisis happens when those sickled red blood cells clump together. Those sickled red blood cells build up and become stuck in blood vessels as they’re attempting to travel throughout the body (as normal red blood cells do). This happening is what sets off a crisis. “The sickle-shaped cells become more numerous when people have infections or low levels of oxygen in the blood.” - https://www.merckmanuals.com/home/blood-disorders/anemia/sickle-cell-disease |
Anonymous
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^^This is part of why you can't just check every blood sample under the microscope and have a 30 second screen for everyone. |
Anonymous
Yep. Medical examiners see some sickled RBC present in specimens taken from every person with sickle cell trait and sickle cell disease. This is one of the ways that they’re able to determine that someone had SCT or SCD (even if it didn’t contribute to the person’s death). You don’t need to be in a crisis or to have ever experienced a crisis (in the case of those with SCT) for sickled RBC to be present. |
Anonymous
My apologies, but just to clarify -- are both of you claiming that you can rely on a peripheral blood smear to rule out sickle cell anemia and/or sickle cell trait, because there will always be visible sickle cells? Is that what you each are saying? |
Anonymous
I’m not sure about the other poster, but that’s what I’m saying. I will never claim that any diagnostic test is 100% accurate, but I will say that peripheral blood smears are highly accurate at detecting sickle cell in the vast majority of people. (Infants are the exception to the rule.) https://imagebank.hematology.org/image/3958/sickle-cell-disease-ndash-rbc-morphology--1 https://academic.oup.com/labmed/article-abstract/31/8/445/2657125 https://www.rmj.org.pk/fulltext/27-1594051429.pdf |
Anonymous
wow! are you saying that you wouldn't have dated, fallen in love with and married your husband b/c he has a genetic blood disorder??? im from a culture that does arranged marriages so this is normal to us- ppl screen for thalassemia, height, skin color, obesity, poor eye sight, wealth, education, ugly noses etc but how would this work in a western dating for marriage set up??? I mean I adore my spouse and we are both from similar ethnic and family backgrounds but we did genetic testing when I was pregnant, I would still have married him. if after mulstile tries, we didn't have healthy baby together we could adopt but our kids are fine despite carrying some recessive genes that run in our culture. I dont understand- do ppl in the west not marry for love anymore?? |
Anonymous
ahhh yes- you should tell that cute guy who asked to grab a cup a coffee about all your diseases and genetic traits while you are in line at Baked and Wired.  or you know what- you should talk about it when you are so deep in love with someone that being apart feels like pain- then you should bring up all of your genetic heritage and decide, you know what I will just suffer this pain. you people are just walking advertisements for desi aunties to tell their kids that dating is bad and arranged marriages are the way to go.
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Anonymous
| We all have something in our genes. Be thankful he does not have a history of bipolar or schizophrenia which runs in my family. |
Anonymous
To recap:
These are both incorrect statements. There have been a few studies on whether a peripheral blood smear is completely reliable to rule out sickle cell disease. It isn't. It's good, but you cannot use it as a quick 30 second screen for all blood donations, which is where this all started. Your own links show this. You linked two studies on peripheral blood smears (PBS) of individuals with Sickle Cell Trait (SCT), and none on those with Sickle Cell Anemia (SCA). You have stated that the PBS of people with SCT and SCD always show sickled cells, but that was not what was being tested, and moreover, that is not what was found, even just looking for abnormal non-sickled cells. https://academic.oup.com/labmed/article-abstract/31/8/445/2657125 This study was not looking for "sickled cells" (a.k.a. drepanocytes), but just abnormally shaped cells that were NOT sickled -- and it found that they were completely absent from 4% of the peripheral smears of people with SCT. They note that "True drepanocytes are not normally present in the PBS of patients with a HbS of less than 50%," and that "The morphologic features of aRBCs in SCT are those of an elongated RBC with tapering of opposite ends. These aRBCs are not to be confused with true drepanocytes ..." They are similar, but they are not the same, and there are more difficulties in distinguishing between them. In addition, they were found in 4% of people who did not have SCT (or SCD). https://www.rmj.org.pk/fulltext/27-1594051429.pdf According to your link, a peripheral smear is a (and I quote) "not very sensitive tool for Sickle trait screening," which means a relative high rate of false negatives. They also note that "true Sickle cells are rarely seen in Sickle cell trait, on peripheral smear..." The study I would add is one that I will have to find the reference for. I believe it was looking at PBS of patients with SCA, and it found that 12 out of 102 (so, a little over 10%) did not show sickled cells. It matters because this discussion is in the context of why blood donation programs aren't just checking every sample. They can't. Yes, a peripheral blood smear is cheap, and it can be helpful, but 4-10% miss rate is not good enough. |
Anonymous
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^ It will not let me quote you for some reason, but read the third link again. The third link did study the accuracy of peripheral blood smears on those with sickle cell disease (not just sickle cell trait). Peripheral blood smears were found to have diagnosed all cases of sickle cell disease accurately with 100% sensitivity and specificity.
https://www.rmj.org.pk/fulltext/27-1594051429.pdf |
Anonymous
Because they were using special staining and then -- most importantly -- electrophoresis. That is not the same thing as just looking at morphology of cells; rather, that is specific for assessing the actual type of hemoglobin within the cell. You see the difference? In the methodology:
That's the only way you make it to 100% sensitivity, but that was not what we were discussing, I mean, it's great, but it's just not true that you will always find sickle cells in every sample from someone with SCA, much less SCT. However, you can do additional more complicated (and more expensive, more time-consuming) tests to do that -- but then we are back to not being able to rely on a simple peripheral smear viewed under a microscope. Because that isn't enough. This is the electrophoresis process: Test Details What Is Hemoglobin Electrophoresis? Hemoglobin electrophoresis is a test to check hemoglobin protein in your red blood cells. Hemoglobin is a protein in your red blood cells that helps cells carry oxygen throughout your body. A provider may do this test to diagnose blood disorders. It’s also one of several screening tests for newborns. Advertisement Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy Hemoglobin types There are five hemoglobin types: Type A (HgbA): Hemoglobin A accounts for most of the hemoglobin in your normal red blood cells. Type A2 (HgbA2): This type accounts for about 2% to 3 % of your total hemoglobin. Type F (HgbF): High levels are normal in fetuses, babies and children up to 3 years old. High type F levels in older children and adults may be signs of blood disorders or other health issues. Type S (HgbS): This type is a sign of sickle cell anemia. Type C (HgbC): This type C is a sign of hemolytic anemia. Test Details How does the test work? A venous blood draw is the most common way providers get blood samples for analysis. Other procedures are: Finger stick: Your healthcare provider pricks your fingertip to get a tiny sample of your blood. Your child’s healthcare provider may use a finger stick test to get a blood sample. Heel stick: A provider gets a few drops of blood by pricking your baby’s heel with a needle. They do this test to check for sickle cell anemia. You don’t need to prepare for this blood test.
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Anonymous
| I don't understand the problem. You found out from him early. You're still early in the pregnancy. Terminate and move on. |
Anonymous
Folks say stuff like this as if terminating is just so mentally, emotionally, and physically easy. She probably doesn’t want to terminate now that she’s already pregnant. She probably wanted to avoid conceiving a child with that gene in the first place. The real answer is to divorce his sorry ***. There will continue to be a pattern of deception if she doesn’t. |
Anonymous
It's not that you are wrong, but I don't think deceptive would really capture it all. He sounds avoidant. Like, if it's hard -- and I mean emotionally hard -- he doesn't face it. He just turns away, drags his feet, denies, and at the end, probably either lands on "it's not a problem" or "I couldn't change it anyway." That's a whole different level of problem. He probably doesn't ever acknowledge it, but he's putting more effort than he admits (even to himself) in avoiding pain. That's a defense mechanism. |