Globin chain synthesis unbalanced - dec globin - dec Hb - dec RBCs - Anemia. Also hemotetramers form (water insoluble) - ptt in RBCs - spleen destroys them early so hemolysis سبب التكسير اهو - BM tries to compensate & make new RBCs but the globin is always defective so defectine erythropoiesis.
If only one locus is deleted it is called silent carrier . Two loci deleted is called trait . Reference- Harrison’s 18th/ 859 . Misleading but thanks anyway.
At minute 1:43 you said decrease in Hb will result in decrese in NUMBER of RBC and this is not true because in thalessemia number of RBC is usually elevated .
Love your videos! Thank you so much for making them! 1 Quick question: I was under the impression that "Alpha Thalassemia minor" and "Alpha thalassemia trait" is same thing with 2 out of 4 genes missing or mutated. Shouldn't missing 1 gene/locus be called a "silent carrier"?
I think you are absolutely correct. It was a mistake. Thank you for noticing it and informing me. You are so sharp! I’ve made a correction in the description below the video. I can’t thank you enough.
What are the 2 things rha will happen in thalassemia What does the spleen and bone marrow do in thalassemia? APLHA THALASSEMIA What chromosome is affected for Alpha Thalassemia? How many genes are responsible for producing the alpha chain/alpha subunit? {3:02} What happens to the genes responsible for producing the alpha chains/subunits in alpha thalassemia? Alpha thalassemia where: 1 locus is deleted? Alpha thalassemia where: 2 loci are deleted? Alpha thalassemia where: 3 loci are deleted? Alpha thalassemia where: 4 loci are deleted? What is formed in HbH disease, & Hydrops Fetalis Disease (Hb Barts Disease) In Hydrops Fetalis Disease (Hb Barts Disease, why is there ineffective erythropoiesis? {5:10} Hb electrophoresis results for, HbH? Hb electrophoresis results for, Hb Bart? Most accurate test to diagnose Alpha Thalassemia? Epidemiology of Alpha Thalassemia? {7:09} How to manage alpha thalassemia?
Thank you so much! I learnt a lot watching each of your videos!! Could I ask 1 question? IDA is microcytic due to concentration of Hb Is Thalassemia the same case?
Oh sorry I edited my sentence too much so it became odd. In previous videos you said that in iron deficient conditions, the RBC will become small due to: 1.They are waiting for iron 2.They shrink the volume to make the Hb look bigger Is Thalassemia the same case? Thank you very much!!
Just wondering if this is something that I picked up. If one locus deleted then that person is a CARRIER, If two loci deleted then they have THALLASEMIA TRAIT which is also known as ALPHA THALLASEMIA MINOR. Maybe I am wrong here so would appreciate your input. (i maybe wrong I maybe right)
I have Sickle Cell trait and Alpha thalasemia. I can't find much on the two together. I found that there is a S-Beta Thalasemia, but is there a name for those like me with SC trait and Alpha Thalassemia?
Omg I just found out I have the same thing! I always knew I had sickle cell trait been in pain nonstop my entire life. My hematologist just told me I have sickle thalassemia and said it’s nothing they can do for pain but prescribe something! It sucks!
My hematologist told me that I have Alpha Thalessemia like two years ago and I’m so confused because I didn’t know it was a rare/ serious thing now I’m scared
Hey 👋...Thanks for your comment. I can’t give medical advice because I am not a doctor. So, please talk to your doctor. And don’t be worried, because it won’t help. I really wish you the best! Keep me updated 👍
Ok, 2 big questions: #1: Why don't the beta-4 hemotetramers show up in the bone marrow & just in the RBCs? #2: I accept the Hgb electrophoresis of alpha-that trait looks just like a normal Hgb electrophoresis, but what do the electrophoresis patterns for the other thalassemia actually look like?
Hey Kevin...Thank you so much for being a member of my channel. I don't know the answer to the first question. Regarding the second question...In Beta thalassemia major, you will find about 90% of hemoglobin F, and about 10% of hemoglobin A2. Hope it helps!
Medicosis Perfectionalis I desperately needed information that I did not understand, and I found this wonderful video. Thank you from the heart. May God grant you success
Usually diagnosed at birth but my son is 10 in a week and a few months ago the Dr's called me telling me he has thalassemia and they missed it like no big deal and that's all they said so now I'm figuring it out on my own
I only got diagnosed with it a few months ago and I'm twice as old as your son! The healthcare system could really be improved. Hope everything goes well for you both!
I'm still in my studies and not a professional, but, I can see that there are 2 possible outcomes, these are: (a-/a-) or (aa/a-) The first being (a-/a-) being known as a+ homozygote and the other one (aa/a-) being known as a+ hetrozygote. [(a-/a-) a+ homozygote] may result in mild microcytic anaemia. [(aa/a-) a+ hetrozygote] will normally be harmless to the individual and cause no haematological abnormality but they are still a silent carrier of the mutation. Again, i'm no professional yet but that's what I think, if you're concerned it is advisable to seek help from a professional
@okay thanks that’s what I thought too so they will become ether like me or like there father , Unfortunately I couldn’t find a professional person in my country 💔 they all told me they will become extremely ill or they will die
@@itzsNico i have thel trait alpha. im not sure what are all of the symptoms i just found out last year and i think im learning that im not lazy i just have little to no energy i knew i had anemia but not thel trait alpha. i need to get my kids check. do you have any advice for me to help me understand it better to live a normal life & not see myself as lazy
JennyMay Ashley I know how you feel. At first I feel like I have no energy, but that’s completely normal for a person who has this disorder. What I did to recover my energy is firstly I had to get blood transfusion, and everyday I have to take this medicine called “folic acid.” Apparently it’s suppose to help my blood or something, but there are other options to recover your strength either by eating a lot of greens, meaning in like vegetables, I ate spinach the most. Or you can exercise, and go to bed pretty early. This what I did to recover my energy. But if you do feel you have no energy, don’t hesitate to sit down and take a breather, that always help me out.
that's me tired and pale, pale and tired 😣 I have been told that I'm a alpha -thalassemia carrier, is there anything I can do to face tiredness and muscles fatigue ? ( I'm already integrating iron ) thank you
Good question...It depends on the type of the test, the lab itself, and how the doctor orders it...For example, if it STAT, which means as soon as possible (e.g. within hours)...So, talk to your doctor and ask about that!
@@MedicosisPerfectionalis Thanks! I happen to be a carrier for this and currently am pregnant and getting my boyfriend tested so we can find out if it's a possibility for our baby and it's been about 3 weeks and still no results
Ok...Normally these tests take long time...But if I were you, I would call the doctor’s office and the lab until they give you the date when your results are available...Don’t leave them alone, it’s YOUR money after all...So, keep calling! Best of luck!
Medicosis Perfectionalis Where is the source of info please? Because in our PBL session the case showed decrease RBC count which i think is wrong as u mentioned but I couldnt back up my point with evidence to the group members
@@rmoalxa Silent carrier means you have one abnormal allele in your genes. Generally these patients are clinically asymptomatic; so therefore, they do not warrant any treatments. Yes, what your doctor has informed you is a reasonable response.
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@3:32 1 gene deletion = silent carrier, 2 gene deletion = trait
Ive never enjoyed hematology this much. Thank you for the complete hard work.
You’re very welcome 😊
Thanks your clearly lecture I enjoy from Somalia east African country
You have a slightly comedic voice and ur content is good (y)
Thanks ☺️
When the subject is complex I come to medicosis really simplifies things in short time
You made medical school so fun for me. THANK YOU
You’re always welcome!
I wish there was a medicosis channel for each subject 😭❤
You're such a GOOD teacher!!! I'm doing an assignment on thalassemia (alpha and beta) and this was just what I needed to get started.
Thank you 🙏
I have heterozygous alpha Thalassemia. It literally took 2 years to diagnose it and my doctor said this type of Thalassemia is sooo rare
It took me getting pregnant at 21 for my doctor to finally diagnose me they always to me was anemic
Same here
I have alpha thalassemia, I'm 5' 7" keeping my weight around 152 to 162, exercise and plant base B12 helps me decrease my days of fatigue.
Globin chain synthesis unbalanced - dec globin - dec Hb - dec RBCs - Anemia.
Also hemotetramers form (water insoluble) - ptt in RBCs - spleen destroys them early so hemolysis سبب التكسير اهو - BM tries to compensate & make new RBCs but the globin is always defective so defectine erythropoiesis.
doctor you are the best .no one can explain easier and clearer than you . thank ypu very much for those free very useful videos
Thank you so much 😊
Can you please help me by sharing?
@@MedicosisPerfectionalis of course doctor. I will share your videos with all my friends
You sound like chandler’s new roommate in freinds😂 I honestly like your channel, great videos 👍
📝 Download my handwritten notes: www.medicosisperfectionalis.com/
You’re helping me a lot for my ASCP exam ...
I am so delighted to hear that! Good luck 🍀 with your exam!
Meryem did you pass and what were you testing for? MLT or MT?
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📝 Download my Notes: www.medicosisperfectionalis.com/
Perfect 💞💞💞
Thank you!
If only one locus is deleted it is called silent carrier .
Two loci deleted is called trait . Reference- Harrison’s 18th/ 859 .
Misleading but thanks anyway.
Have you read the description under the video?
Yeah what he given in the chart is wrong
Silent carriers are single gene deletion cases having hemoglobin in normal range. Trait is when 2 locus are deleted
At minute 1:43 you said decrease in Hb will result in decrese in NUMBER of RBC and this is not true because in thalessemia number of RBC is usually elevated .
Have you watched my video on “lab results in thalassemia”?
sure, thank you
You’re welcome
Thank you for your excellent explanation!
And you have a beautiful handwriting btw
Keep it up
Thank you 😊
Hgb Barts is detectable on newborn screen for the trait as well. It disappears once beta globin is produced.
U R BRILLIAAAANT ❤
plz consider metabolic disorders as a separate series in ur near future plans 😁
Thank you 🙏
Can you give me examples?
I like the way u r talking
Thank you 😊
this was extremely useful
Excellent...Thanks for watching! 👍👍 ..There is a whole playlist for hematology and more videos are coming! Good luck!
In beta Thalassemia trait, the A2 is elevated, usually above 3.5 %. Thank you for your videos
Thank you for your support!
I confused with Beta Thalassemia. Thank you, it's a pleasure to follow your videos@@MedicosisPerfectionalis
Thanks dear for teaching us very good love the way that u explain the lecs ❤
Thank you 🙏
very nice mathematical pattern in those genes! 2*2 = 4, 2 loci, 4 genes. 4*4 = 16, chromosome 16. easy to remember!
I think with your channel I will be the first this year again .
Thank you 🙏
Hi! Amazing video - thank you. One possible correction (I could be wrong) - αα/α- is silent carrier (not trait) and α-/α- or αα/-- is trait or minor
Yes, you are right!
Love your videos! Thank you so much for making them!
1 Quick question: I was under the impression that "Alpha Thalassemia minor" and "Alpha thalassemia trait" is same thing with 2 out of 4 genes missing or mutated. Shouldn't missing 1 gene/locus be called a "silent carrier"?
I think you are absolutely correct. It was a mistake. Thank you for noticing it and informing me. You are so sharp! I’ve made a correction in the description below the video. I can’t thank you enough.
Sxizt
U R fantastic bro🤸♂️❤️
Thank you 🙏
ahhhh thank you so much again!!!!
My pleasure 😇
Best 👌
Thanks!
Great 🔥🔥❤️
Thank you 🙏
Thank you 🙏
What are the 2 things rha will happen in thalassemia
What does the spleen and bone marrow do in thalassemia?
APLHA THALASSEMIA
What chromosome is affected for Alpha Thalassemia?
How many genes are responsible for producing the alpha chain/alpha subunit? {3:02}
What happens to the genes responsible for producing the alpha chains/subunits in alpha thalassemia?
Alpha thalassemia where: 1 locus is deleted?
Alpha thalassemia where: 2 loci are deleted?
Alpha thalassemia where: 3 loci are deleted?
Alpha thalassemia where: 4 loci are deleted?
What is formed in HbH disease, & Hydrops Fetalis Disease (Hb Barts Disease)
In Hydrops Fetalis Disease (Hb Barts Disease, why is there ineffective erythropoiesis? {5:10}
Hb electrophoresis results for, HbH?
Hb electrophoresis results for, Hb Bart?
Most accurate test to diagnose Alpha Thalassemia?
Epidemiology of Alpha Thalassemia? {7:09}
How to manage alpha thalassemia?
Hb Barts Diseases:
Gamma4 very high affinity to O2, so cannot deliver O2 to tissues (since bound to gamma)
thanks for your vidoes, can you explain why is it low MCV please
The hallmark feature of HbH is the presence of Golf Ball inclusions in red cell demonstrated with supravital staining 👍
You are the best
Sorry I have a confusion at 3:47 do u want to say 4 alleles?
thank you so much
Of Course! Don’t mention it :)
In that table, are those 4 loci or 4 genes that get deleted one by one? Becs u mentioned 2 loci and 4 genes in the beginning of that part😢
which hemoglobin band appears when one has hb bart disease?
Thank you so much! I learnt a lot watching each of your videos!!
Could I ask 1 question?
IDA is microcytic due to concentration of Hb
Is Thalassemia the same case?
+Lee Romeo Can you explain more your statement “Iron deficiency anemia is microcytic due to concentration of Hb”?
Oh sorry I edited my sentence too much so it became odd.
In previous videos you said that in iron deficient conditions, the RBC will become small due to:
1.They are waiting for iron
2.They shrink the volume to make the Hb look bigger
Is Thalassemia the same case?
Thank you very much!!
+Lee Romeo Yeah, I believe so, but may be to a lesser extent.
Thanks💝
You’re very welcome 😊
You speak by nose ??
Just wondering if this is something that I picked up.
If one locus deleted then that person is a CARRIER, If two loci deleted then they have THALLASEMIA TRAIT which is also known as ALPHA THALLASEMIA MINOR. Maybe I am wrong here so would appreciate your input. (i maybe wrong I maybe right)
I have Sickle Cell trait and Alpha thalasemia. I can't find much on the two together. I found that there is a S-Beta Thalasemia, but is there a name for those like me with SC trait and Alpha Thalassemia?
Omg I just found out I have the same thing! I always knew I had sickle cell trait been in pain nonstop my entire life. My hematologist just told me I have sickle thalassemia and said it’s nothing they can do for pain but prescribe something! It sucks!
My hematologist told me that I have Alpha Thalessemia like two years ago and I’m so confused because I didn’t know it was a rare/ serious thing now I’m scared
Hey 👋...Thanks for your comment.
I can’t give medical advice because I am not a doctor.
So, please talk to your doctor.
And don’t be worried, because it won’t help.
I really wish you the best!
Keep me updated 👍
@@MedicosisPerfectionalis I guess you are a doctor now???
Great jobbbb
Great thanks,god bless you
+Doc tor My pleasure. God Bless you too!
Thanks for watching and leaving a comment!
does hemoglobin electrophoresis give a quantitative analysis?
Thank you.
Tq
My pleasure 😇
I will now send this video to people when they ask me to explain Alpha Thala
Nice! I am so delighted that you liked it.
i think alpha thalassemia minor is called trait and the first one is called minima
correct me if i am wrong
Is anyway you can make video on WBCS? Thank you!
Yes...It’s coming...I will try to finish all hematology and oncology as soon as I can...Thanks for writing me! 👍
You are awesome ❤
Thank you so much ☺️
Sir, for alpha thalassemia carrier, the DNA analysis will be normal? Or it will show some deletion like alpha thalassemia trait?
Thanks, needed to know what I have
You’re welcome!
Best of luck to you!
thanks a lot your videos helped greatly + awesome channel name
You’re very welcome! Thanks for watching! 👍
Is that slides present as pdf?
Is the expansion of Hematopoiesis seen in Alpha Thalessemia due to the anemia ? or It is only seen in Beta Thalessemia ?
I don’t fully understand what a hemotetramer is?
Hi there I have a question. Can this cause itchy skin?
Thank you so mach
You are always welcome! Thanks for watching!
Ok, 2 big questions:
#1: Why don't the beta-4 hemotetramers show up in the bone marrow & just in the RBCs?
#2: I accept the Hgb electrophoresis of alpha-that trait looks just like a normal Hgb electrophoresis, but what do the electrophoresis patterns for the other thalassemia actually look like?
Hey Kevin...Thank you so much for being a member of my channel.
I don't know the answer to the first question.
Regarding the second question...In Beta thalassemia major, you will find about 90% of hemoglobin F, and about 10% of hemoglobin A2.
Hope it helps!
الله يوفقككككككك🦋✨✨✨✨🌷🌷🌷🌷🌷🌷🌷🌷😭😭😭🙏🙏🙏🙏
Thank you 🙏
Medicosis Perfectionalis
I desperately needed information that I did not understand, and I found this wonderful video. Thank you from the heart. May God grant you success
Usually diagnosed at birth but my son is 10 in a week and a few months ago the Dr's called me telling me he has thalassemia and they missed it like no big deal and that's all they said so now I'm figuring it out on my own
I only got diagnosed with it a few months ago and I'm twice as old as your son! The healthcare system could really be improved. Hope everything goes well for you both!
@@whowhatwen agreed they experiment and I can't stand them sorry for your dx
This was great
Thank you 🙏
I thought there is no alpha thalas minor. 1 locus will classified as silent carier, 2 loci thalas trait, and next straight to hbh and hb bart?
You’re correct!
Hb Bart's/alpha tetramers occur when all 4 alpha are deleted and not 3
May i know that alpha thalassemia carrier or silent carrier has high red blood count but normal haemoglobin?
I got (-a/aa) and my husband got (-a/-a) are my future children in danger ?
I'm still in my studies and not a professional, but, I can see that there are 2 possible outcomes, these are: (a-/a-) or (aa/a-)
The first being (a-/a-) being known as a+ homozygote and the other one (aa/a-) being known as a+ hetrozygote.
[(a-/a-) a+ homozygote] may result in mild microcytic anaemia.
[(aa/a-) a+ hetrozygote] will normally be harmless to the individual and cause no haematological abnormality but they are still a silent carrier of the mutation.
Again, i'm no professional yet but that's what I think, if you're concerned it is advisable to seek help from a professional
@okay thanks that’s what I thought too so they will become ether like me or like there father , Unfortunately I couldn’t find a professional person in my country 💔 they all told me they will become extremely ill or they will die
shahad ALG late reply but my doc told me the child had 1/4 chance of dying
Ambre Durimel in my case?
The abnormal genes on opposite chromosome
Actually in alpha-Thalassemia there is a normal or increased RBCs
Yes! I discussed that in my video on “lab results in thalassemia” th-cam.com/video/HnOgCG1QKgU/w-d-xo.html
Isn't alpha thalassemia silent is one gene missing and alpha thalassemia trait is two genes missing
What is hemotetramer .? How it is formed in thalassemia?
Identical hemoglobin chains fuse together because not all chains are produced due to a genetic defect.
@@MedicosisPerfectionalis thanks👍
My pleasure 😇
@@MedicosisPerfectionalis Isn't that a homotetramer?
I’m suffering this disorder right now
Oh! I am so sorry to hear that...and how is your health now?
Medicosis Perfectionalis unfortunately I have to go to the hospital the next day but I’m fine
I hope you hear some good news...Please Keep me updated...Never let the disease win! Good luck 👍
@@itzsNico i have thel trait alpha. im not sure what are all of the symptoms i just found out last year and i think im learning that im not lazy i just have little to no energy i knew i had anemia but not thel trait alpha. i need to get my kids check. do you have any advice for me to help me understand it better to live a normal life & not see myself as lazy
JennyMay Ashley I know how you feel. At first I feel like I have no energy, but that’s completely normal for a person who has this disorder. What I did to recover my energy is firstly I had to get blood transfusion, and everyday I have to take this medicine called “folic acid.” Apparently it’s suppose to help my blood or something, but there are other options to recover your strength either by eating a lot of greens, meaning in like vegetables, I ate spinach the most. Or you can exercise, and go to bed pretty early. This what I did to recover my energy. But if you do feel you have no energy, don’t hesitate to sit down and take a breather, that always help me out.
merci infiniment
De rien :)
Bonjour de Fort Worth!!!
Great! Thank you
My pleasure 😇
I'm a hemoglobin E carrier. I don't know what that means lol🐸
that's me tired and pale, pale and tired 😣 I have been told that I'm a alpha -thalassemia carrier, is there anything I can do to face tiredness and muscles fatigue ? ( I'm already integrating iron ) thank you
Sir does this disease occur at a time of birth or it can also occur later in life ?
People are born with thalassemia. Whether they will suffer symptoms, how bad the symptoms are, and when they will manifest are different issues!
How long does the blood test results take to get?
Good question...It depends on the type of the test, the lab itself, and how the doctor orders it...For example, if it STAT, which means as soon as possible (e.g. within hours)...So, talk to your doctor and ask about that!
@@MedicosisPerfectionalis Thanks! I happen to be a carrier for this and currently am pregnant and getting my boyfriend tested so we can find out if it's a possibility for our baby and it's been about 3 weeks and still no results
Do you mean genetic studies?
@@MedicosisPerfectionalis Yes
Ok...Normally these tests take long time...But if I were you, I would call the doctor’s office and the lab until they give you the date when your results are available...Don’t leave them alone, it’s YOUR money after all...So, keep calling! Best of luck!
what about alpha thalassemia minor? does it show up in electrophoresis?
i read there are alfa0 and alfa+ genes, what is that mean?
amazing
Thank you! Glad you liked it!
I love u man
😊😊😊
What are hemotetramers ???
Pls sir Can you make leukaemic portions
Leukemia videos are coming soon...No worries, you have asked, and we will make it happen :) Thanks!
Does this affect your bones. I’m aching more
That is jus generally life and being an adult..everything aches
I have it and I take Flax Seed pills for a healthy heart and aching bones. But I also take Tumeric and Ginger capsules, Black Seed Oil, Moringa
Decreased hematocrit and RBC but in lab tests u mentioned increased RBC count... I’m a bit confused
+ Isn’t RBC count the same as Hematocrit? >.
Thalassemia is an exception where patients can have anemia with normal to high RBC count.
Medicosis Perfectionalis yes but u mentioned Decrease hematocrit and Increase RBC count.. aren’t both the same
No
Medicosis Perfectionalis Where is the source of info please? Because in our PBL session the case showed decrease RBC count which i think is wrong as u mentioned but I couldnt back up my point with evidence to the group members
Isint alpha thal trait supposed to be mutation of 2 genes and mutation of 1 supposed to be silent carrier?
Yes!
@@MedicosisPerfectionalis oops just read your description…my bad. Love your videos!❤️
Thank you 🙏
I think 🧐🙂α-thal trait is a Deletion of two α-globin genes
Thaaaank you
My pleasure!
flow cytometry
Homotetramer not hemotetramer, please note
You're correct
Been told by my Dr that I have alpha thalassemia however I do not require any treatment, is this normal?
What kind of alpha thalassemia?
It has 4 types.
@@MedicosisPerfectionalis silent carrier
@@rmoalxa Silent carrier means you have one abnormal allele in your genes. Generally these patients are clinically asymptomatic; so therefore, they do not warrant any treatments. Yes, what your doctor has informed you is a reasonable response.
@@lindag4658 Thanks
I have this.. I been having heart problems.. sucks