WEBVTT 00:00:24.170 --> 00:00:25.929 Hey, everybody. What's up? What's up? What's 00:00:25.929 --> 00:00:27.710 up? This is Food for Thought. Thoughts if it 00:00:27.710 --> 00:00:30.969 were you. And my name is Neogentrics. It's great 00:00:30.969 --> 00:00:32.570 to hear from you guys again. It's great to see 00:00:32.570 --> 00:00:36.149 everyone that is here. All right. All right. 00:00:36.829 --> 00:00:39.210 Now, I'm still recording this for my podcast, 00:00:39.329 --> 00:00:41.009 but I'm happy to be here with the rest of you 00:00:41.009 --> 00:00:43.189 guys. I'm going to cover something that you asked 00:00:43.189 --> 00:00:47.030 me about. I got my notes here. If there's anything 00:00:47.030 --> 00:00:48.590 else, I'll probably look it up along the way 00:00:48.590 --> 00:00:52.380 as we go. But if I'm not mistaken, your question 00:00:52.380 --> 00:00:55.399 over here, your question was, what is sickle 00:00:55.399 --> 00:01:00.000 cell disease? Let's see here. If I'm not mistaken, 00:01:00.299 --> 00:01:05.519 SCD, it's an inherited blood disorder. It's not 00:01:05.519 --> 00:01:08.079 something you can just get. It's not contagious. 00:01:08.420 --> 00:01:11.640 That's the good news. But because it's inherited, 00:01:11.780 --> 00:01:13.359 it means it's passed down through your families. 00:01:13.420 --> 00:01:15.879 So you're either born with it or you're not. 00:01:16.000 --> 00:01:19.280 So there's that. It's not something you can catch 00:01:19.280 --> 00:01:21.900 or develop later. And the disease, it gets its 00:01:21.900 --> 00:01:26.540 name because when you have SCD, your red blood 00:01:26.540 --> 00:01:32.159 cells look like sickles, which is a C -shaped, 00:01:32.400 --> 00:01:36.319 kind of like a farm tool. Red blood cells contain 00:01:36.319 --> 00:01:39.239 a molecule called hemoglobin, which carries oxygen 00:01:39.239 --> 00:01:42.200 through the body. In a healthy person, hemoglobin 00:01:42.200 --> 00:01:45.299 is smooth, round, and flexible. That allows red 00:01:45.299 --> 00:01:47.620 blood cells to glide easily through your bloodstream. 00:01:47.680 --> 00:01:51.519 But if you have SCD, the hemoglobin's shape is 00:01:51.519 --> 00:01:55.640 abnormal. It forms rods that clump together. 00:01:55.920 --> 00:01:58.540 And these cause red blood cells to become rigid 00:01:58.540 --> 00:02:02.620 and curved. And the odd -shaped cells block blood 00:02:02.620 --> 00:02:06.319 flow. It's... how do I put it? It's dangerous. 00:02:06.680 --> 00:02:10.819 It can cause extreme pain, anemia, other symptoms, 00:02:10.919 --> 00:02:14.120 you name it. About 100 ,000... People in the 00:02:14.120 --> 00:02:17.439 United States have it, roughly. Unfortunately, 00:02:17.439 --> 00:02:19.740 most of them are, as they call them, African 00:02:19.740 --> 00:02:23.340 Americans. It is known in other countries to 00:02:23.340 --> 00:02:25.960 have it as well. That's just the statistic I 00:02:25.960 --> 00:02:31.500 have here for America. A problem. So, here's 00:02:31.500 --> 00:02:39.819 a question. What causes the disease? Let me see 00:02:39.819 --> 00:02:43.159 if I can answer that for you. A problem in the 00:02:43.159 --> 00:02:46.020 hemoglobin beta gene found in chromosome 11, 00:02:46.259 --> 00:02:50.000 the defect forms abnormal hemoglobin molecules 00:02:50.000 --> 00:02:53.120 which cause this. Basically, both your parents 00:02:53.120 --> 00:02:55.740 need to pass the abnormal hemoglobin gene onto 00:02:55.740 --> 00:02:57.979 you in order for you to actually develop the 00:02:57.979 --> 00:03:00.360 disease. So if both your parents carry the defective 00:03:00.360 --> 00:03:03.120 gene, you have a 1 in 4 chance of inheriting 00:03:03.120 --> 00:03:08.259 the disease and becoming sick with it. And if 00:03:08.259 --> 00:03:10.340 a child is born with one defective hemoglobin 00:03:10.340 --> 00:03:13.819 beta gene, he may become a carrier of the disease, 00:03:14.020 --> 00:03:18.400 if not worse. Carriers usually don't develop 00:03:18.400 --> 00:03:22.479 the SCD at all, but they can pass the disease 00:03:22.479 --> 00:03:24.960 to future children if their partner also carries 00:03:24.960 --> 00:03:27.780 the sickle cell trait. So basically, if you will, 00:03:27.919 --> 00:03:31.000 both parents have to have it, basically an alpha 00:03:31.000 --> 00:03:35.879 and beta gene, in order for it to become a thing. 00:03:36.509 --> 00:03:38.930 With that being said, there are several different 00:03:38.930 --> 00:03:43.330 forms of sickle cell disease. The type you and 00:03:43.330 --> 00:03:45.689 your child inherit depend on many things, including 00:03:45.689 --> 00:03:47.849 the specific type of abnormal hemoglobin you 00:03:47.849 --> 00:03:52.629 have. Hemoglobin SS, for one, also known as sickle 00:03:52.629 --> 00:03:55.569 cell anemia, is usually the most severe type 00:03:55.569 --> 00:03:58.129 of this disorder. Other common forms would be 00:03:58.129 --> 00:04:03.490 hemoglobin SC, usually a mild case. Hemoglobin 00:04:03.490 --> 00:04:09.889 S -beta. thalassemia. It's a really hard thing 00:04:09.889 --> 00:04:14.849 to say. Rarer types, the ones I mentioned before 00:04:14.849 --> 00:04:17.029 are the common ones. Three rarer types would 00:04:17.029 --> 00:04:20.310 be hemoglobin SD, hemoglobin SE, and hemoglobin 00:04:20.310 --> 00:04:24.230 SO. Okay. And here in the United States, newborn 00:04:24.230 --> 00:04:26.149 screening programs require that all babies are 00:04:26.149 --> 00:04:28.290 tested for this disease shortly after being born 00:04:28.290 --> 00:04:31.410 for their safety. It's one of the many things 00:04:31.410 --> 00:04:35.350 that they do. They want to make sure that you're, 00:04:35.350 --> 00:04:44.110 you know, as they say, healthy. Okay? We'll take 00:04:44.110 --> 00:04:56.970 a short break here. And we're back. Now, I know 00:04:56.970 --> 00:04:59.370 I mentioned a second ago that you can get it 00:04:59.370 --> 00:05:02.189 basically through inheriting it from your parents. 00:05:02.329 --> 00:05:06.259 Okay? But let me go ahead and zoom in a little 00:05:06.259 --> 00:05:10.720 bit more here into the cause and effect of this 00:05:10.720 --> 00:05:15.240 disease real quick. Mainly the abnormal hemoglobin 00:05:15.240 --> 00:05:17.439 called hemoglobin S, which causes the sickle 00:05:17.439 --> 00:05:20.439 cell disease. Let me zoom in on this a little 00:05:20.439 --> 00:05:24.500 bit further. The hemoglobin S gene, how do I 00:05:24.500 --> 00:05:27.019 put this? Sickle cell disease is an inherited 00:05:27.019 --> 00:05:31.139 disease caused by defects called mutations in 00:05:31.139 --> 00:05:34.699 the beta -globin gene. That helps make hemoglobin 00:05:34.699 --> 00:05:36.519 known. Normally, the red blood cells take up 00:05:36.519 --> 00:05:39.060 oxygen in the lungs and carry it through the 00:05:39.060 --> 00:05:41.540 arteries to all the cells in the tissues in the 00:05:41.540 --> 00:05:44.740 body. The red blood cells that contain the normal 00:05:44.740 --> 00:05:47.439 hemoglobin are shaped like discs, or at least 00:05:47.439 --> 00:05:51.819 something close to it, and are flexible so that 00:05:51.819 --> 00:05:53.699 they can move easily through large and small 00:05:53.699 --> 00:05:57.500 blood vessels to deliver oxygen. Now, sickle 00:05:57.500 --> 00:05:59.990 hemoglobin... It's not like normal hemoglobin. 00:05:59.990 --> 00:06:03.670 The mutation in the gene causes a problem when 00:06:03.670 --> 00:06:07.170 oxygen levels in the blood are lower, which occurs 00:06:07.170 --> 00:06:09.410 once the hemoglobin has delivered oxygen to the 00:06:09.410 --> 00:06:12.009 cells in the body's tissues. With less oxygen, 00:06:12.149 --> 00:06:15.750 the abnormal hemoglobin S can cause rigid, non 00:06:15.750 --> 00:06:19.290 -liquid protein strands to form in the red blood 00:06:19.290 --> 00:06:21.949 cell. These rigid strands can change the shape 00:06:21.949 --> 00:06:24.269 of the cell, causing the sickle red blood cell 00:06:24.269 --> 00:06:28.470 that gives the disease its name. And sickle -shaped 00:06:28.470 --> 00:06:31.470 cells are not flexible, and they can stick to 00:06:31.470 --> 00:06:34.810 vessel walls, causing a blockage that slows or 00:06:34.810 --> 00:06:36.829 stops the flow of blood. When this happens, oxygen 00:06:36.829 --> 00:06:39.629 is unavailable to reach the nearby tissues. Now, 00:06:39.649 --> 00:06:42.709 that lack of oxygen in tissue can cause attacks 00:06:42.709 --> 00:06:46.569 of sudden severe pain, cause pain crisis. I mean, 00:06:46.589 --> 00:06:48.470 these pain attacks can occur without warning, 00:06:48.509 --> 00:06:51.209 and a person who has them often needs to go to 00:06:51.209 --> 00:06:52.970 the hospital for effective treatment immediately. 00:06:57.370 --> 00:06:59.410 change their shape easily. They tend to burst 00:06:59.410 --> 00:07:01.970 apart. Now, normal red blood cells live about 00:07:01.970 --> 00:07:05.089 90 to 120 days anyway, but sickle cells last 00:07:05.089 --> 00:07:09.209 only 10 to 20 days. The body is always making 00:07:09.209 --> 00:07:11.529 new blood cells to replace the old ones. However, 00:07:11.670 --> 00:07:13.529 in the sickle cell disease, the body may have 00:07:13.529 --> 00:07:15.870 trouble keeping up with how fast the blood cells 00:07:15.870 --> 00:07:18.389 are being destroyed. Because of this, the number 00:07:18.389 --> 00:07:20.470 of blood cells is usually lower than normal. 00:07:20.629 --> 00:07:24.689 This condition in itself is called anemia, okay, 00:07:24.750 --> 00:07:26.149 when you don't have enough blood cells in the 00:07:26.149 --> 00:07:28.879 first place. It can cause a person to have less 00:07:28.879 --> 00:07:36.079 energy. Let me go a little more in depth into 00:07:36.079 --> 00:07:38.100 the other half of it. The fact that it's inherited. 00:07:38.420 --> 00:07:42.079 Like I said, it is inherited only from one parent. 00:07:42.300 --> 00:07:46.860 The normal hemoglobin A is inherited from the 00:07:46.860 --> 00:07:51.720 other parent. A person will have a sickle cell 00:07:51.720 --> 00:07:55.240 trait. The person with sickle cell trait are 00:07:55.240 --> 00:07:59.620 generally healthy. Only rarely do people who 00:07:59.620 --> 00:08:02.420 have sickle cell trait have complications similar 00:08:02.420 --> 00:08:04.959 to those seen in people who have sickle cell 00:08:04.959 --> 00:08:07.920 disease. But people with sickle cell trait are 00:08:07.920 --> 00:08:11.000 carriers of a defective hemoglobin S gene, so 00:08:11.000 --> 00:08:15.040 they can pass on when they have children. Now, 00:08:15.060 --> 00:08:17.759 if the child's parent also has sickle cell trait 00:08:17.759 --> 00:08:21.759 or an abnormal hemoglobin gene, such as the leucemia, 00:08:21.959 --> 00:08:26.209 hemoglobin C, D, or even E, That child has a 00:08:26.209 --> 00:08:29.649 chance of getting the same disease as well Okay 00:08:29.649 --> 00:08:36.990 About how to put this each parent has one normal 00:08:36.990 --> 00:08:39.309 hemoglobin gene. Let me give an example here 00:08:39.309 --> 00:08:43.269 and He would also say each parent has a normal 00:08:43.269 --> 00:08:46.649 hemoglobin gene a and what but one of them has 00:08:46.649 --> 00:08:49.450 hemoglobin gene s okay, which means that each 00:08:49.450 --> 00:08:54.250 child has At least how to put it A 25 % chance 00:08:54.250 --> 00:08:57.070 of inheriting two normal hemoglobin A genes. 00:08:57.230 --> 00:09:01.970 In this case, the child doesn't have the sickle 00:09:01.970 --> 00:09:04.350 cell trait or the disease. Or there's the 50 00:09:04.350 --> 00:09:09.230 % chance that one normal hemoglobin A and S gene 00:09:09.230 --> 00:09:12.330 will be inherited. This child will have the sickle 00:09:12.330 --> 00:09:16.409 cell trait, but he won't have the disease. And 00:09:16.409 --> 00:09:19.590 then there's the last 25%. That he'll inherit 00:09:19.590 --> 00:09:23.019 both of the S genes. and therefore inherit the 00:09:23.019 --> 00:09:27.100 disease. Now, in this scenario, it is important 00:09:27.100 --> 00:09:29.299 to keep in mind that each time a couple has a 00:09:29.299 --> 00:09:31.759 child, the chances of the child having the disease 00:09:31.759 --> 00:09:33.899 remain the same. In other words, even if the 00:09:33.899 --> 00:09:35.940 firstborn has the disease, there's still that 00:09:35.940 --> 00:09:40.139 same 25 % chance that the child after will also 00:09:40.139 --> 00:09:43.080 have the disease. Both boys and girls can inherit 00:09:43.080 --> 00:09:46.159 this disease. It is not specific to sex, okay? 00:09:47.740 --> 00:09:49.580 They could either end up with the sickle cell 00:09:49.580 --> 00:09:51.980 trait, the disease, or the hemoglobin. They each 00:09:51.980 --> 00:09:55.980 have a 50 -50 shot of getting any one of the 00:09:55.980 --> 00:09:58.519 three. If a person wants to know whether he or 00:09:58.519 --> 00:10:01.440 she carries that gene, he needs to order a blood 00:10:01.440 --> 00:10:15.289 test from the doctor to find out. Continuing 00:10:15.289 --> 00:10:18.490 on with this, let me go into the next one, okay? 00:10:18.549 --> 00:10:22.370 That was basically hemoglobin S. The next type 00:10:22.370 --> 00:10:25.549 of sickle cell to keep in mind would be sickle 00:10:25.549 --> 00:10:32.149 beta 0, the lasemia disease, okay? It's still 00:10:32.149 --> 00:10:37.750 a type of anemia in a way, okay? So let me ask 00:10:37.750 --> 00:10:41.990 this, what is sickle beta the lasemia 0? Or, 00:10:42.070 --> 00:10:48.419 you know... It's basically the same thing in 00:10:48.419 --> 00:10:51.620 a nutshell. However, it's not the same, okay? 00:10:51.879 --> 00:10:55.419 It's similar. Let's put it this way. Your child's 00:10:55.419 --> 00:10:57.759 red blood cells contain normal hemoglobin called 00:10:57.759 --> 00:10:59.980 hemoglobin S, like I mentioned before, or the 00:10:59.980 --> 00:11:02.759 sickle hemoglobin. In addition, the red blood 00:11:02.759 --> 00:11:05.700 cells have a defect called the lasemia, which 00:11:05.700 --> 00:11:10.720 results in cells that are smaller in size and 00:11:10.720 --> 00:11:14.700 more pale than usual. So, instead of appearing 00:11:14.700 --> 00:11:17.899 round or donut -shaped, if you will, your child's 00:11:17.899 --> 00:11:20.659 blood cells are somewhat small, pale, and misshapen. 00:11:21.940 --> 00:11:25.500 Some may appear sickled or banana -shaped. Now, 00:11:25.500 --> 00:11:27.820 there's a thought. Your blood looks like a banana, 00:11:27.899 --> 00:11:32.279 but not edible. Because sickle beta -zero thalassemia 00:11:32.279 --> 00:11:35.639 is inherited, it's a lifelong disorder. There 00:11:35.639 --> 00:11:38.299 is no treatment for it at the moment, or a cure, 00:11:38.460 --> 00:11:41.539 although they're currently working on one, to 00:11:41.539 --> 00:11:43.519 my knowledge, at the moment. There may be one 00:11:43.519 --> 00:11:46.759 yet, but at the moment, I don't know. Your child 00:11:46.759 --> 00:11:49.279 will always have a mild anemia or a slightly 00:11:49.279 --> 00:11:51.399 low blood count. This may result in occasional 00:11:51.399 --> 00:11:55.059 tiredness and weakness. While I'd like to go 00:11:55.059 --> 00:11:58.360 into how my child got this, like I mentioned 00:11:58.360 --> 00:12:00.159 before with the last one, if one parent has the 00:12:00.159 --> 00:12:03.039 sickle trait and the other parent has... Well, 00:12:03.120 --> 00:12:04.600 this one's a little different. If one parent 00:12:04.600 --> 00:12:06.960 has the sickle trait, but then the other one 00:12:06.960 --> 00:12:09.169 has the beta zero trait... There's actually a 00:12:09.169 --> 00:12:11.289 one in four chance that their child will be born 00:12:11.289 --> 00:12:15.750 with normal hemoglobin. The beta zero trait, 00:12:16.009 --> 00:12:21.110 sickle beta zero, the leucemia altogether, or 00:12:21.110 --> 00:12:23.509 just the sickle trait. And these chances remain 00:12:23.509 --> 00:12:25.509 the same for each pregnancy after the first. 00:12:26.190 --> 00:12:28.769 They're basically the same. So, I mean, this 00:12:28.769 --> 00:12:30.570 one works out the same way as before. The only 00:12:30.570 --> 00:12:32.830 difference is only one of them has to have this 00:12:32.830 --> 00:12:35.129 specific trait, whereas the other one would have 00:12:35.129 --> 00:12:39.490 the regular trait. Okay? Now, let me mention 00:12:39.490 --> 00:12:42.429 something here. There have been problems seen 00:12:42.429 --> 00:12:47.669 in children with sickle zero thalassemia. Most 00:12:47.669 --> 00:12:50.830 information about the sickle cell anemia, which 00:12:50.830 --> 00:12:53.549 applies to this one, like sickle cell anemia 00:12:53.549 --> 00:12:59.470 in your child, he still has a high risk, increased 00:12:59.470 --> 00:13:02.049 risk of getting infections such as meningitis, 00:13:02.350 --> 00:13:08.700 an infection of the brain, pneumonia. septicemia 00:13:08.700 --> 00:13:15.399 which is blood poisoning osteomyelitis think 00:13:15.399 --> 00:13:18.500 I'm butchering the name on that one it's an infection 00:13:18.500 --> 00:13:21.980 of the bone and because children are more susceptible 00:13:21.980 --> 00:13:26.139 to infections then in this case than regular 00:13:26.139 --> 00:13:29.700 children he or she will put on like they'll be 00:13:29.700 --> 00:13:33.279 put on penicillin until age five in order to 00:13:33.279 --> 00:13:35.820 help prevent these diseases from occurring and 00:13:35.820 --> 00:13:38.519 it's important that you your child take the penicillin 00:13:38.519 --> 00:13:42.919 as directed however one thing to keep in mind 00:13:42.919 --> 00:13:45.980 with children that are affected by this any fevers 00:13:45.980 --> 00:13:50.299 especially of 101 .5 or 38 .5 degrees celsius 00:13:50.299 --> 00:13:53.460 should be taken extremely seriously and if that's 00:13:53.460 --> 00:13:55.399 the case they have it you need to take them to 00:13:55.399 --> 00:13:59.669 the doctor immediately okay On another note, 00:13:59.769 --> 00:14:04.009 painful episodes can occur from this beta 0 gene. 00:14:04.509 --> 00:14:08.009 The sickle red blood cells in sickle beta 0, 00:14:08.169 --> 00:14:10.909 like those in sickle cell anemia, are rigid, 00:14:11.009 --> 00:14:15.470 stiff, and may sometimes cause log jams in small 00:14:15.470 --> 00:14:18.549 blood vessels in the bones, organs, or even other 00:14:18.549 --> 00:14:20.470 parts of your body. Since oxygen, which is carried 00:14:20.470 --> 00:14:22.730 by the blood, can't get past the log jams into 00:14:22.730 --> 00:14:26.299 the bones and organs, it causes pain. These pain 00:14:26.299 --> 00:14:29.039 episodes occur most commonly in the back, stomach, 00:14:29.200 --> 00:14:31.600 arms, and legs areas. So yes, it's going to hurt 00:14:31.600 --> 00:14:34.940 like hell. It can last for a few hours to make 00:14:34.940 --> 00:14:38.299 as much as a week or more. Occasionally, the 00:14:38.299 --> 00:14:40.279 pain is accompanied by swelling. Painful episodes 00:14:40.279 --> 00:14:42.960 can vary in severity of the pain and the duration. 00:14:43.259 --> 00:14:45.299 There are medications to help ease the pain and 00:14:45.299 --> 00:14:46.720 make your child more comfortable, but this does 00:14:46.720 --> 00:14:49.269 not solve the problem. And often children with 00:14:49.269 --> 00:14:53.470 sickle cell beta 0 have a slightly enlarged spleen. 00:14:53.649 --> 00:14:56.169 But this usually doesn't cause any problems. 00:14:56.309 --> 00:14:58.970 But it is important to inform any physician that 00:14:58.970 --> 00:15:01.610 sees your daughter or child that he or she has 00:15:01.610 --> 00:15:04.210 this beta 0 gene. You have to let them know. 00:15:04.730 --> 00:15:08.070 A child with this gene can have a normal lifestyle 00:15:08.070 --> 00:15:12.789 and lifespan. Your child should not be considered 00:15:12.789 --> 00:15:15.529 sick. And you should be treating him or her normally 00:15:15.529 --> 00:15:18.759 no matter what. Because he or she will need to 00:15:18.759 --> 00:15:20.419 be seen regularly by your family doctor. This 00:15:20.419 --> 00:15:22.360 is a known fact for regular checkups and vaccinations. 00:15:22.919 --> 00:15:25.340 But your child will also need to make several 00:15:25.340 --> 00:15:29.440 visits a year to see a hematologist or a blood 00:15:29.440 --> 00:15:31.779 specialist just to make sure that everything 00:15:31.779 --> 00:15:35.539 is okay. And if you want more information on 00:15:35.539 --> 00:15:40.600 that, check out the New England Pediatric Sickle 00:15:40.600 --> 00:15:43.039 Cell Consortium. They're doing research on that 00:15:43.039 --> 00:15:57.899 specific one right now. Now, let me turn my attention 00:15:57.899 --> 00:16:00.360 away from that one for a second and talk about 00:16:00.360 --> 00:16:03.879 its twin. It's one similar to it, but it's not 00:16:03.879 --> 00:16:08.659 exactly the same. This is sickle cell beta plus 00:16:08.659 --> 00:16:12.820 thalassemia. Thalassemia. That word's going to 00:16:12.820 --> 00:16:17.360 drive me nuts all day. You're like, well, what's 00:16:17.360 --> 00:16:20.799 the difference? What is that? Basically, it's 00:16:20.799 --> 00:16:24.460 a mild form of sickle cell disease. I mean, based 00:16:24.460 --> 00:16:27.009 off of what I'm saying. been saying so far me 00:16:27.009 --> 00:16:29.870 saying something is mild doesn't seem too believable 00:16:29.870 --> 00:16:32.850 but i mean it is okay your child's red blood 00:16:32.850 --> 00:16:35.169 cells in this form have only a small amount of 00:16:35.169 --> 00:16:37.990 the normal hemoglobin called hemoglobin a okay 00:16:37.990 --> 00:16:41.610 they also have abnormal hemoglobin called hemoglobin 00:16:41.610 --> 00:16:43.610 s which is the sickle cell we mentioned before 00:16:43.610 --> 00:16:46.149 okay the red blood cells have another problem 00:16:46.149 --> 00:16:50.950 called beta plus thalassemia this causes red 00:16:50.950 --> 00:16:55.440 blood cells to be small and pale okay Basically, 00:16:55.500 --> 00:16:57.440 it's an inherited condition, same as before. 00:16:58.379 --> 00:17:00.820 Hemoglobin S comes from one of the parents. Beta 00:17:00.820 --> 00:17:04.920 plus comes from the other parent. It's the same 00:17:04.920 --> 00:17:08.859 as the beta zero. Instead of appearing like round 00:17:08.859 --> 00:17:11.220 donuts, your child's red blood cells are somewhat 00:17:11.220 --> 00:17:15.660 pale and small and a little bit misshapen. As 00:17:15.660 --> 00:17:18.259 for the symptoms and problems that occur from 00:17:18.259 --> 00:17:22.430 it, well, they're... How do I put this? Symptoms 00:17:22.430 --> 00:17:24.390 are somewhat... There's something out of the 00:17:24.390 --> 00:17:28.369 ordinary that a parent will notice. Periods of 00:17:28.369 --> 00:17:32.349 pain can happen with Sigma Beta Plus. The red 00:17:32.349 --> 00:17:34.210 blood cells are rigid and stiff. This is normal 00:17:34.210 --> 00:17:38.730 for any sickle cell, for that matter. Sometimes 00:17:38.730 --> 00:17:41.369 they clog up the small blood cells in the bones 00:17:41.369 --> 00:17:43.009 and other parts of the body. They can cause pain 00:17:43.009 --> 00:17:44.950 because not enough oxygen can get to the bones 00:17:44.950 --> 00:17:47.640 or other parts of the body. the pain usually 00:17:47.640 --> 00:17:50.220 happens in the back stomach and arms areas as 00:17:50.220 --> 00:17:53.640 well as the legs um and with this one there will 00:17:53.640 --> 00:17:57.039 be there may be swelling uh the pain can last 00:17:57.039 --> 00:18:00.000 a few hours or up to a week or more making this 00:18:00.000 --> 00:18:02.059 one slightly different from the other one and 00:18:02.059 --> 00:18:04.059 the amount of pain varies from person to person 00:18:04.059 --> 00:18:07.910 okay sometimes a child uh with Sigma Beta Plus 00:18:07.910 --> 00:18:11.690 can have a slightly enlarged spleen. This organ, 00:18:11.829 --> 00:18:14.470 as I mentioned earlier, is actually located on 00:18:14.470 --> 00:18:17.869 the upper left side of the stomach area. A bigger 00:18:17.869 --> 00:18:21.450 spleen usually doesn't cause any problems, but 00:18:21.450 --> 00:18:26.309 it will be noticeable. Unlike Sigma Beta Zero, 00:18:26.589 --> 00:18:30.210 Sigma Beta Plus There are medicines to help ease 00:18:30.210 --> 00:18:34.329 the pain, such as taking medications like Tylenol, 00:18:34.369 --> 00:18:37.109 which is acetaminophen or ibuprofen, which would 00:18:37.109 --> 00:18:40.210 be Advil. They usually help the pain. Now with 00:18:40.210 --> 00:18:43.430 this one, fluids can help your child too. Your 00:18:43.430 --> 00:18:45.769 child has a risk of infections, including pneumonia. 00:18:46.789 --> 00:18:49.490 The abnormal red blood cells clog up the lungs, 00:18:49.569 --> 00:18:51.269 so this increases the risk of infection here. 00:18:51.769 --> 00:18:53.369 Your child will need to drink plenty of fluids 00:18:53.369 --> 00:18:56.109 to keep the blood vessels open so that these 00:18:56.109 --> 00:18:57.950 things can pass through. So there's at least 00:18:57.950 --> 00:19:00.990 a way to work with this one, unlike with Beta 00:19:00.990 --> 00:19:05.170 Zero. Also, one thing to keep in mind about this 00:19:05.170 --> 00:19:07.430 one is that children with Sigma Beta Plus can 00:19:07.430 --> 00:19:09.829 have normal lifespans as well. You know, like 00:19:09.829 --> 00:19:11.390 the other one, don't consider your child sick. 00:19:11.650 --> 00:19:14.529 You need to treat them normally, okay? Your child 00:19:14.529 --> 00:19:16.890 will still need to see a doctor regularly for 00:19:16.890 --> 00:19:19.029 checkups and vaccinations, much like Beta Zero. 00:19:20.940 --> 00:19:22.759 They will have to see a hematologist several 00:19:22.759 --> 00:19:25.880 times a year. But other than that, this one's 00:19:25.880 --> 00:19:27.940 pretty much the same as the one before with only 00:19:27.940 --> 00:19:30.759 slight alterations. The only difference is that 00:19:30.759 --> 00:19:33.240 the symptoms for this one are a lot easier to 00:19:33.240 --> 00:19:48.160 treat than the other one. Let me move on to the 00:19:48.160 --> 00:19:50.019 next one. There are four of these remaining. 00:19:50.410 --> 00:19:55.170 okay hemoglobin SC hemoglobin SD hemoglobin SE 00:19:55.170 --> 00:19:58.930 and hemoglobin SS we start with hemoglobin SE 00:19:58.930 --> 00:20:03.109 it's the still a type of sickle cell disease 00:20:03.109 --> 00:20:05.769 like I mentioned before all of these are which 00:20:05.769 --> 00:20:07.769 means it affects the shape of the red blood cells 00:20:07.769 --> 00:20:11.230 can which contain that protein hemoglobin okay 00:20:11.230 --> 00:20:13.930 we already understand that this is what makes 00:20:13.930 --> 00:20:17.289 the body function like it needs to and make sure 00:20:17.289 --> 00:20:19.779 that the blood cells are the right shape okay 00:20:19.779 --> 00:20:23.660 also but the each one has slightly different 00:20:23.660 --> 00:20:26.779 effects that make them each different okay and 00:20:26.779 --> 00:20:29.359 like that like all the others this one misshapes 00:20:29.359 --> 00:20:31.240 your red blood cells and it doesn't allow for 00:20:31.240 --> 00:20:37.720 oxygen to flow uh like it's supposed to with 00:20:37.720 --> 00:20:40.339 this one person can have a lot of pain or no 00:20:40.339 --> 00:20:43.019 pain at all based off of the fact that they can't 00:20:43.019 --> 00:20:45.779 get oxygen to certain parts of their body The 00:20:45.779 --> 00:20:47.619 severity of the symptoms can vary from person 00:20:47.619 --> 00:20:51.519 to person with SC. And the disease is caused 00:20:51.519 --> 00:20:54.920 by mutations in the gene, just as before. People 00:20:54.920 --> 00:20:58.039 affected by hemoglobin SC disease need to be 00:20:58.039 --> 00:21:01.119 especially careful to avoid infection and should 00:21:01.119 --> 00:21:04.180 be checked up regularly by doctors from time 00:21:04.180 --> 00:21:06.279 to time. The only difference between this one 00:21:06.279 --> 00:21:08.839 and the others is that this one may require blood 00:21:08.839 --> 00:21:12.180 transfusion. A bone marrow transplant may also 00:21:12.180 --> 00:21:14.140 be recommended depending on the severity of the 00:21:14.140 --> 00:21:19.190 symptoms. With this, they have newborn screenings 00:21:19.190 --> 00:21:20.930 when children are born, especially if the parents 00:21:20.930 --> 00:21:24.369 are found to have any of the traits that can 00:21:24.369 --> 00:21:28.390 cause this. The thing about this is making a 00:21:28.390 --> 00:21:30.849 diagnosis for a genetic or rare disease can often 00:21:30.849 --> 00:21:34.990 be challenging for a lot of these doctors. Healthcare 00:21:34.990 --> 00:21:36.910 professionals typically look at a person's medical 00:21:36.910 --> 00:21:40.509 history, symptoms, physical exams, lab test results 00:21:40.509 --> 00:21:42.990 in order to make a diagnosis in this case because 00:21:42.990 --> 00:21:48.980 it's so rare. And there's almost no way to determine 00:21:48.980 --> 00:21:51.519 if a person won't get it. Like, there's chances 00:21:51.519 --> 00:21:54.220 that both parents won't have it, but then that 00:21:54.220 --> 00:21:56.359 child that's born just happens to inherit the 00:21:56.359 --> 00:21:58.420 trait, and they have no idea where it came from. 00:22:00.259 --> 00:22:06.220 So there's that. With that being said, there's 00:22:06.220 --> 00:22:09.920 a lot of different algorithms and things flowing 00:22:09.920 --> 00:22:12.559 around that allow for them to check this out. 00:22:17.849 --> 00:22:22.069 Like, how do I put this? The severity of the 00:22:22.069 --> 00:22:23.789 symptoms can vary from person to person. Some 00:22:23.789 --> 00:22:27.190 people are minimally affected by it, while others 00:22:27.190 --> 00:22:31.410 will have serious complications that require 00:22:31.410 --> 00:22:35.369 blood transfusions. And, I mean, it occurs when 00:22:35.369 --> 00:22:37.650 the eyes are not getting enough oxygen due to 00:22:37.650 --> 00:22:40.390 the shape of the blood cells. So, this is how 00:22:40.390 --> 00:22:44.309 this one is triggered specifically. You'll know 00:22:44.309 --> 00:22:46.829 if a person has it by the way their eyes react. 00:22:47.210 --> 00:22:51.690 More blood vessels form around the eyes to make 00:22:51.690 --> 00:22:55.089 up for this challenge as a result of oxygen not 00:22:55.089 --> 00:22:57.869 getting there like it's supposed to. And this 00:22:57.869 --> 00:23:02.230 is called... How do I say this? Proliferative 00:23:02.230 --> 00:23:10.220 Sickle Cell Routine... How do I say it? retinopathy 00:23:10.220 --> 00:23:12.059 and that's as close as I'm gonna get to that 00:23:12.059 --> 00:23:16.019 without close monitoring by an ophthalmologist 00:23:16.019 --> 00:23:18.940 this condition can basically lead to vision loss 00:23:18.940 --> 00:23:23.000 that's why this one is watched so fervently it 00:23:23.000 --> 00:23:27.059 can cause blindness another possible complication 00:23:27.059 --> 00:23:30.000 of hemoglobin SC disease can result with the 00:23:30.000 --> 00:23:32.950 bones specifically the bones in the hip Not getting 00:23:32.950 --> 00:23:35.549 enough oxygen from the red blood cells. And it's 00:23:35.549 --> 00:23:38.670 most common during or after pregnancy in women 00:23:38.670 --> 00:23:41.309 affected by this disease. And the treatment for 00:23:41.309 --> 00:23:43.970 this complication may require actual surgery 00:23:43.970 --> 00:23:46.730 or physical therapy just to even get through 00:23:46.730 --> 00:23:49.950 it, okay? There's still a lot of research going 00:23:49.950 --> 00:23:52.589 on as to figure out what causes this disease 00:23:52.589 --> 00:23:57.930 or how to properly deal with it. So they're watching 00:23:57.930 --> 00:23:59.650 these people who get this disease specifically 00:23:59.650 --> 00:24:14.150 very fervently. Now I'm gonna skip to the nutty 00:24:14.150 --> 00:24:17.569 grit nearly gritty of this one. Okay? The next 00:24:17.569 --> 00:24:21.849 one is sickle cell SD. Okay? Much like all the 00:24:21.849 --> 00:24:24.509 others it's affected the same way and it is inherited 00:24:24.509 --> 00:24:26.589 and there is a one in four chance that every 00:24:26.589 --> 00:24:28.809 child in the pregnancy of a person who has either 00:24:28.809 --> 00:24:31.009 the sickle cell trait or the other one having 00:24:31.009 --> 00:24:36.509 a hemoglobin D trait Will end up with SD, okay? 00:24:37.750 --> 00:24:42.900 Now in this specific one How do I put this? People 00:24:42.900 --> 00:24:45.220 with the hemoglobin D trait or sickle cell trait 00:24:45.220 --> 00:24:47.559 do not have a hemoglobin disease, okay? And they 00:24:47.559 --> 00:24:50.619 can't develop the disease later in life, okay? 00:24:50.680 --> 00:24:52.119 But they can pass it to their children. This 00:24:52.119 --> 00:24:54.900 is understood. However, the SD trait is typically 00:24:54.900 --> 00:24:57.779 found in males and females equally and occurs 00:24:57.779 --> 00:25:00.980 in all races. But it is more common in people 00:25:00.980 --> 00:25:06.380 from Africa, Caribbean, and South American ancestry. 00:25:06.759 --> 00:25:09.299 It is less common in the Mediterranean and Middle 00:25:09.299 --> 00:25:13.059 Eastern. people but it is there all newborn babies 00:25:13.059 --> 00:25:16.500 in utah are tested by default also for hemoglobin 00:25:16.500 --> 00:25:18.420 sd disease regardless of their race or ethnic 00:25:18.420 --> 00:25:21.559 background the disease is a lifelong condition 00:25:21.559 --> 00:25:27.779 and it's not contagious um as for the the the 00:25:27.779 --> 00:25:31.339 problems that can be caused with it well in certain 00:25:31.339 --> 00:25:33.980 situations hemoglobin may be sickle, like I mentioned 00:25:33.980 --> 00:25:36.240 before. It's basically the situation where the 00:25:36.240 --> 00:25:38.000 red blood cells become hard, sticky, and clog 00:25:38.000 --> 00:25:40.519 up the blood vessels. And, I mean, this, it's 00:25:40.519 --> 00:25:44.420 similar to the other iterations when a hevaglomer 00:25:44.420 --> 00:25:47.519 S interacts with other S, C, or O hevaglomer 00:25:47.519 --> 00:25:51.059 types. I mean, as a result, SD causes, you know, 00:25:51.059 --> 00:25:54.099 problems like the sickle cell disease, obviously. 00:25:55.279 --> 00:25:57.440 And may have periods of, you know, feeling well 00:25:57.440 --> 00:26:00.920 and times of, you know, sudden intense pain out 00:26:00.920 --> 00:26:03.859 of nowhere. anywhere in your body no specific 00:26:03.859 --> 00:26:07.160 areas have been specified for this one damaging 00:26:07.160 --> 00:26:11.819 red blood cells cannot they can't deliver oxygen 00:26:11.819 --> 00:26:15.119 obviously in this format you know and again this 00:26:15.119 --> 00:26:18.940 one is not very flexible the sickle d shape of 00:26:18.940 --> 00:26:23.799 these cell cells can also rupture blood vessels 00:26:23.799 --> 00:26:27.059 they have an even shorter lifespan than the normal 00:26:27.059 --> 00:26:31.809 red blood cells and the type s which we have 00:26:31.809 --> 00:26:34.349 discussed already. And again, it leads to anemia 00:26:34.349 --> 00:26:41.470 with low blood cell counts as well. Another thing 00:26:41.470 --> 00:26:43.589 to keep in mind is that ruptured blood cells 00:26:43.589 --> 00:26:50.390 in turn that are produced from this disease in 00:26:50.390 --> 00:26:53.490 turn can cause jaundice as well in a lot of people. 00:26:54.150 --> 00:26:57.390 Children with the SD disease sometimes may have 00:26:57.390 --> 00:27:00.190 serious health problems. that, if not treated, 00:27:00.190 --> 00:27:02.329 could also lead to death in this one's case. 00:27:02.690 --> 00:27:05.210 The problems are infection of the blood, like 00:27:05.210 --> 00:27:07.250 I mentioned in the last one. However, there's 00:27:07.250 --> 00:27:08.869 also a sudden enlargement of the spleen with 00:27:08.869 --> 00:27:13.490 a drop in the red blood cell count due to trapping 00:27:13.490 --> 00:27:16.970 a large number of blood in the spleen, meaning 00:27:16.970 --> 00:27:19.009 that they could actually pass out at some point 00:27:19.009 --> 00:27:21.529 and never wake up again. Other serious problems 00:27:21.529 --> 00:27:23.789 include sudden pain, swelling in the hands or 00:27:23.789 --> 00:27:27.109 feet, fever, increased infection, anemia, obviously. 00:27:27.900 --> 00:27:30.680 Chest pain, trouble breathing, pneumonia, stroke, 00:27:30.960 --> 00:27:34.700 blood and urine, leg ulcers, gallstones. Yes, 00:27:34.740 --> 00:27:37.640 that's a thing. Again, with the vision problems. 00:27:38.480 --> 00:27:40.680 Yellowing of the skin. Again, like I mentioned, 00:27:40.819 --> 00:27:44.079 that would be jaundice. Organ damage. That can 00:27:44.079 --> 00:27:46.740 happen. Kidney failure, which is probably one 00:27:46.740 --> 00:27:49.720 of the most painful ones. Painful erections if 00:27:49.720 --> 00:27:54.500 you're a guy. Problems during pregnancy. Things 00:27:54.500 --> 00:27:57.420 of that nature. Now, the pain management can 00:27:57.420 --> 00:27:59.759 also be dealt with with Acetaminophen or Tylenol 00:27:59.759 --> 00:28:03.700 or Ibuprofen such as Advil or Motrin. And drinking 00:28:03.700 --> 00:28:06.799 plenty and plenty of water or liquids of that 00:28:06.799 --> 00:28:08.940 sort can help the pain go away, especially in 00:28:08.940 --> 00:28:12.440 children who are especially active. But if the 00:28:12.440 --> 00:28:14.059 pain doesn't get better, like I mentioned before 00:28:14.059 --> 00:28:15.480 with the last one, make sure you take them to 00:28:15.480 --> 00:28:18.539 the ER and have them meet it immediately. Now, 00:28:18.640 --> 00:28:20.599 there are some infections of the blood that can 00:28:20.599 --> 00:28:23.160 occur in infants and young people. young children 00:28:23.160 --> 00:28:26.339 as well so doctors will often prescribe also 00:28:26.339 --> 00:28:29.079 for this one penicillin for the child to keep 00:28:29.079 --> 00:28:31.980 them immune okay unlike what much others remember 00:28:31.980 --> 00:28:34.079 that the child can also live a normal life they 00:28:34.079 --> 00:28:36.339 still have to see a hematologist and have regular 00:28:36.339 --> 00:28:38.279 checkups for this one as well