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Beta Thalassemia - Causes and Types - minor, Major & Intermedia - Hematology
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- Опубліковано 4 жов 2017
- Beta Thalassemia - Causes and Types - minor, Major & Intermedia - Hematology.
Anemia is subdivided - based on MCV- into microcytic, normocytic and macrocytic anemia.
Microcytic anemia includes iron deficiency anemia (less iron), anemia of chronic disease (iron available but inaccessible), sideroblastic anemia (defect in heme synthesis) and thalassemia (defect in Globin synthesis).
Thalassemia comes from the Greek word "Thalassa" which means: the sea.
Beta thalassemia is common in Italy and Greece.
Symptoms of anemia are fatigue, pallor, shortness of breath, headache, dizziness, exercise intolerance, murmur (flow murmur, not organic), ischemia (angina pectoris).
It is subdivided into beta thalassemia major, beta thalassemia minor, and beta thalassemia intermedia.
The anemia is usually microcytic hypochromic. (Mean corpuscular volume "MCV" is low)
Hemoglobin is made up of heme and globin...Heme is made of iron plus protoporphyrin.
Chromosome 11 is involved, a non-sense DNA mutation leads to a premature stop codon formation which will cause termination of protein synthesis.
A defect in Beta globin chains synthesis leads to beta thalassemia.
Beta thalassemia can be usually diagnosed using hemoglobin electrophoresis.
Hair-on-end appearance can appear on an x-ray of the skull. (Radiological finding)
Beta thalassemia major is also known as Cooley's anemia.
Management of thalassemia is discussed in a different video.
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In brief, beta thalassemia is a microcytic, hemolytic anemia that affects people living near the mediterranean sea. If you like my videos, please consider leaving a tip at www.paypal.me/perfectionalis/
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how can one sound so sassy explaning this hahah, thanks for the video!
Beatriz M You are welcome :)
Sassy and comedic
@@MedicosisPerfectionalis but good
Are you practicing?
Put playback speed to 1.5X
Thank me later
Mayank Shekhar yea thank you 🙏
Gotta get the info fast!
thanks
You are so right! Thanks ;)
You are a hero!
My opinion. The systems in our body which work to maintain a state of homeostasis throughout is nothing but miraculous. Fascinating stuff here. Thank you.
Couldn’t agree more 👍👍😊
I don’t know what to do without you in hematology thanks a lot 😭😭😭😭😭😭😭😭
My pleasure 😇
Thanks for your kind words!
Can you please help me by sharing?
Medicosis Perfectionalis yeeeees of course I’ll do my best you are an amazing man you deserve the best 👍🏼
Ugh without u I don’t know how I would pass my haemtaoloy course
I am so delighted to hear that 😊...Thank You!
Great video as always. Could you do a video on the differences between alpha and beta thalessemia pls? Is there any differences in between? :)))
that was REALLY helpful. thank you!
You are so welcome!
I have beta thalassemia minor. Glad more education about it is being spread. I am anemic, and cannot give blood because it never passes the preliminary tests. My ribs poke out slightly more than they should, and do no matter how much weight I lose/gain. My mother’s tail bone sticks out more than it should. All very minor compared to those who have major.
Hehe same here never knew the tailbone was because of the thalassemia 😂
I just found out I have Intermedia yesterday 😒 on top of my hypothyroidism 😒
@@A_Black_Sheep94 I’m sorry things have been rough. I hope you’re able to find treatments that help make you feel better. ❤️🩹
Great explanation, as always! Thank you. Just a correction: it is "homotetramer" as opposed to "heterotetramer" since the 4 subunits are the same.
Fair enough!
Thank you so much 😊
@@MedicosisPerfectionalis Thank you for your great help. You are a wonderful teacher and a great inspiration! 🙏🏻🙏🏻
u don't know how much u have helped medicose 💜💜💜
Thank you 😊
Really helpful.
I had a feeling that dracula is teaching me hematology. Just kidding.
Haha 😂
Fair enough
The way of explaining is outstanding 👍gratitude!!!!
Thank you 🙏
Extremely helpful thank you so much
Keep going
I sure will...Thanks a million!
I watched too much vids of this channel that whenever I explain concepts, I sound like you hehehe
Haha 😂
Thank you Sir. Does extramedullary erythropoiesis also take place in alpha thalassaemia? I didn't see that mentioned. Thanks
Because of you, I got B+
Thank you so much 💜💜💜
You helped me a lot ! THANK YOU! i have minor beta thalassaemia and im from India
Thanks a lot! Welcome to my channel. Sorry to hear that. I wish you the best of luck, from the bottom of my heart!
Do you mind me asking if you are symptomatic?
@@paige6094 i am symptomatic. Its kinda weird to explain. My symptoms are excessive sweating in head , sometimes feels tired for no reason , cant hear my head its the best explanation. Hard to concentrate and remember things most of it from the short memory. Its happening in episodes. Sometimes i am wealthy and good all day. Sometimes only night. But cant stop me i have a job , student in university and makes me more ambitious and hunger to overcome those on the top of me .
🎉🎉🎉👏🏽👏🏽congrats u one of best teachers i hve seen
Wow, thank you!
I'm really thankful. This helped me alot.
I'm in my pediatrics round and thalassemia is one of my worst topics ever.
Also my pediatrics' exams are next week so plz wish me good luck.
Good luck! Stay happy and study hard 👏
Medicosis Perfectionalis
I'll try ha 😅.. thanks alot.♥
You’re very welcome 😊
Are you a doctor now?
What a great explanation! Thank you
My pleasure! Thanks for your encouragement!
Thank you very much 💜
From Saudi Arabia 🇸🇦
Thank you 🙏
Love the way you teach. Can u go more into treatment aswell
+Raquel F Sure, I will. Thanks a lot! I am delighted that you’ve enjoyed the video.
Treatment of Thalassemia here:- ua-cam.com/video/CIsP9nYcCUo/v-deo.html
You should put all of the Medicosis Perfectionalis videos on Osmosis as it would be much easier not having to toggle back and forth between apps/youtube channels. Nevertheless...great job!!!
Osmosis is a different company!
I have this trait. Is it safe to say that energy levels are affected when one has this trait?
In simple word. Amazing ♥️
Thanks 🙏
Best explaination ever 👏👏
Thank you 🙏
1:20 beta chains are less or not synthesised => tetramers 4 alpha chains (they are not stable which lead to destruction of erythroblasts).
So, does this mean it can be detected testing bilirubin levels?
Thanks so much. i have a question .. Why can we say alph thal (Hb H ) resemble beta major ? . in symptoms.. and you mentioned in alph thal. video that " B4 hemotetramers can't be found in BM " Do you mean that hemolysis only happens in Spleen and Liver ?
Hey! i have a question is it okay if someone who is carrying thalassemia or has it to drink alcohol?
As u said in b thalassemia minor RBC high and MCV normal but if MCV. And MCH are not normal I mean less then 80 like 60 what then
you say that the chromosome muteted in beta thalassemia is 11
also the alpha chromosome is 16 but the Robbin pathology say the contrary :
beta thalassemia : chromosome 16 while the alpha chromosome 11
I was told when I had a blood test for something that I had thalassemia. They did not follow it up or anything. A few years later after another blood test (not related to thalassemia), the Doctor said I was low on iron, so they gave me a month's worth of Iron tablets, no other follow up. Maybe this would explain why my endurance is dire. I am having another blood test at the end of the month because I always seem to be gasping for air as if I do not get enough oxygen.
Stop taking iron supplements. Your body very likely cannot process it properly and it could lead to an exess of iron in your blood which isn't good. Ask you doctor for dietary advice and check if you need vit B under the form of folic acid tablets.
great job as always! I am just confused with RBC numbers. Since they are decreased by ineffective erythropoiesis and hemolysis why the numbers in thallasemia are higher?
there is erythropoiesis but ineffective. there are lots of incompetent RBC's in circulation as well as simultaneous hemolysis. but still bcoz of hypoxemia, the EPO continues to stimulate erythropoiesis.
thanks man helped me a lot ❤️
My pleasure 😇
This helped me alot, enjyed ur friendly enviorment, today u were not too much drunk,, sorry lol,, i always enjoyed ur leacture
Thank you 🙏
My hb is 88 now (vegan for 19 months) as opposed to 93 (previous normal). I SERIOSULY can’t take the dizziness, light headedness, tired and fatigue anymore.
It’s driving me bonkers. Feels like I’m a waking corpse carrying myself around everywhere.
Any suggestions on what I can do? I have beta Thalassaemia
amazing man :) can you do renal tubular acidosis
Sure! Thanks for your comment!
Hi i just know from my HP elecro.... That i have Beta thalassemia Trait detected on HPLC. What will consequences of this on my life and what should i take steps now.?? Please guide me
Hey brother...Thanks for asking me...Every person is different...So, please follow up with a good doctor who can tailor his/her medical advice toward your own needs...Also, never let any condition defeat you. All the best!
this is helps me a lot thank u
My pleasure 😇
Would all hemolytic anemias stimulate epo secretion and cause erythroid hyperplasia, and chipmunk facie
Thank u very much. Helpfull😊
My pleasure 😇
I can't understand sch difficult details. Just tell me that my son is patient of beta thalassemia Hbe. In which category is it? In intermedia or minor or in between of them or something different
Thnk u very much for understanding so well
I appreciate you!
So please, what does (consistent with B Thalassemia Trait )
Mean ?
That was amazing
If one parent has the alpha thalassemia trait and the other parent has beta thalassemia minor, will the fetus still have thalassemia major? Or is it different because they're on different chromosomes?
Hello Medicosis, in 3 deleted Alpha thalessemia there is Homotetramer Beta which can damage to the erythrocyte . But there is no increase in EPO or extramedullary Hematopoiesis. yet Alpha thalessemia can result in severe anemia. I dont understand why there is endocrin and blood smear differences between Beta thalessemia and Alpha thalessemia.
what about HbA2 in B thalassemia intermedia? it will increase as well right?
Can you do leukopoiesis? Thank you!
Thanks for your comment...Sure! But, can you please be more specific? What would you like in leukopoiesis? Please let me know!
Your hematology videos are so helpful and clear. Thank you, I appreciate them.
Can I ask you question : you said beta thalassemia can be heterozygous or homozygous And the heterozygous is the beta thalassemia Minor, Here’s the question, how could it be heterozygous while the disease is autosomal recessive at the same time ?
This is very confusing to me
It’s called co-dominance (different from complete dominance)...Same as sickle cell trait, the heterozygous HbSs still shows some symptoms, also he is a carrier. Hope it helps!
.
I have question my dad is a carrier but my mom is normal including me there is 4 kids i have my dad blood type and one of my sibling too other two siblings have my mom blood type im the first kid they had am i gonna be carrier?
I have beta thalassemia trait and I’m from Iran. Thanks for the info
My pleasure 😇
Good luck 🍀
Sir, My sister is suffering from minor beta Thalassemia... and the hemoglobin level is not rising,she is taking supplement like folic acid, vitamin B12, she is not taking iron because iron level is 250 because of blood transfusion, done in previous month... we are consulting with hematologist but they cant figure out currently, why the hemoglobin level is not rising and at this time it is about 6unit..and it may fall after menstrual cycle..
beta thalassemia is well known in asian countries and common in italy and greece which is also inherited and been passed down genectically and generations
U r fantastic..... Keep it up
I don’t deserve that! Thank you very much!
what does hematotetramere mean? Is it just synonym to tetramere ?
Great job thanks
+Malak Hamadto My pleasure!
Hi, is haemotetramer same as homotetramer?
Plz say something about e-beta thalassemia.
Great video. Subscribed.
Thanks...Welcome bro
Thank u, I have benefited a lot, what are the Medicine for thalassemia intermedia ?
It’s a genetic disease (mutation) with no cure…The only thing physicians can do is to mitigate the symptoms and improve the lab results.
@@MedicosisPerfectionalis What about gene therapy
Nice video thanks..!
Superb! Thanks for your comment:)
I'm Thalassemia major from India , Tamil Nadu
holy crap this was amazing
bigu236 Glad you liked it!
veeeeery helful thank you so so much
Thanks for your kind words! You are always welcome!
Thanks for the video! Do you have one on Thalassemia diet? Like oxygen rich foods and what not?
No, never heard of that.
@@MedicosisPerfectionalis there are article under Thalassemia "diet" searches.
"patients with thalassemia across 10 hematology outpatient clinics in the United States and Canada, comparing their food frequency data with the US Dietary Reference Intakes and correlations with serum 25-OH vitamin D and total body iron stores. Results showed surprising levels of nutrient inadequacy in this population. Recommendations based on this preliminary data suggested that registered dietitian nutritionists shift the focus away from avoiding iron-rich diets and toward concentrating on a more well-balanced diet rich in antioxidants and minerals. When iron is avoided in the diet, zinc intake is frequently reduced; zinc is an essential nutrient that has been shown to be particularly beneficial to immune status, bone health, and growth in thalassemia. The intake of dairy foods is also low, which might, in part, be related to lactose intolerance. Therefore, strategies for increasing dietary calcium and magnesium should emphasize lactose-free dairy and calcium-fortified foods. Shifting the focus toward more fruits, vegetables, and whole grains will not only enhance antioxidant and fiber intake, but also enhance folate intake, which is critically important to red blood cell metabolism."
There are quite a few but wasnt sure if you researched it yourself. New video coming now? lol
Do you have a url?
I'm sorry I do not have one but through research I've stumbled across information here and there..
I don’t know 🤷♂️
thank you for this video!!!
My pleasure!
Excellent explaination Sir
Keepit up.
I will...and you, keep studying and smiling!
Medicosis Perfectionalis sure ☺
👍👍
Your videos are made well and so understandable thank you so much🌼💙
My pleasure...I happy to help!
In alpha thelassemia why is it that there isn't iron overload?
thankyou so much!
It’s always my pleasure 😇
Can i get this video in other language like hindi plzz
"Go back to microbiology and repeat this subject.."... Ummm it's more molecular biology and fuck that, im studying for step 3 and forgot the thalassemias. But a great way to just get to the point. Perfect video
شرح اكثر من رائع جميل جدا❤❤❤❤❤❤❤تحياتنا من العراق🔥
🙏🙏🙏
What's the meaning of Hbe trait?
great explanation
Thank you:)
Wonderful Channel
Thank you so much! I appreciate you!
Thank you very much...🙏
My pleasure 😇
Bro video is great, content is also great, but the only problem is try to speak little fast and more maturely.
does erythroid hyperplasia also happen in alpha thalassemia and why ?
بحبك كتير
Thanks for the video, I got some beta minor
I am so sorry to hear that!
Me too and my baby got from me
@@sabaasghar1480How are you doing and how is your baby?
Do you have any symptoms??
I have beta talassemia. Ozone therapy possible for me ? Will it help enhance my oxination ?
It’s not research proven.
I only follow evidence-based medicine.
I wish you the best of luck!
Thanks a lot ,🙏🏻
My pleasure 😇
great video
but one question is that hemotetramers or homotetramers?
You’re right...I made a mistake.
Thanks sir !
Most welcome!
Thank you for the video, I am 35 yr old and Beta-Thalessemia Minor. Since past 6-7 years i started to experience exercise induced intermittent claudication. This intermittent claudication won't let me to run more than 10 mins. Does anyone experience similar condition? Btw i never felt claudicaitons in my childhood, it develops later part of life
I got the same it make me tired
Tare to l lag geya 🤗
maxillary bone will large, leading to something called "chipmunks facies" …. FINE...🐹...great content. Thank You!
This guy’s personality is hilarious.
No kidding 😂😂
Good video i have subscribed
Thank you!
Thanks, I know nothing for free! but there are some points have to be told, one of them: you have said: ineffective erythropoiesis the red cells will die in the bone marrow! so how come they reached circulation and destroyed by the spleen?
Some will die in the bone marrow, some will die in the spleen.
Thanks
My pleasure!
Can you please tell me if coq10 helps thal patients
No evidence
Well anything about science is really fascinating to me but the way you speak and explain this concept let me think you don't love what you say.
I don't get why thalassemia out of all chronic hemolytic anemias is microcytic hypochromic ??
You'll be much appreciated if you could explain why please.
İn thalassemia, Globin production is deficient Which cause decrease in Hemoglobin and Decrease in Hemoglobin results in Microcytic Anemia.( Because erythrocytes try to maintain concentration of Hb in erythrocyte )
My baby boy is Beta thalassemia.., How to treatment.. For this..!