SlideShare a Scribd company logo
1 of 19
THALASSEMIA Clinical  Features and  Genetic  Classification Presented  by: : Avik  basu  MODERATOR : DR.  SANTOSH  KUMAR  MONDAL ASSOCIATE  PROFESSOR, PATHOLOGY
Eyes Face Skin Spleen Liver Bones
Patient  presents  with … ,[object Object],[object Object],[object Object],[object Object]
Clinician  finds … ,[object Object],[object Object],[object Object],[object Object]
Complications  that  may  follow … ,[object Object],[object Object]
TYPES  OF  THALASSEMIA ,[object Object],[object Object]
Genetic  changes  in  Alpha  Thalassemia… ,[object Object],[object Object]
Structure  of  alpha  gene
Types  of  Deletion  Mutation  in  Alpha  Thalassemia ,[object Object],[object Object]
Types  of  NON-Deletion  Mutation  in  Alpha  Thalassemia ,[object Object],[object Object],[object Object]
 
TYPES  OF  ALPHA  THALASSEMIA α  -Thalassemias Genetic  Representation Silent  Carrier - α / αα α -Thalassemia  Trait-1 --/ αα α -Thalassemia  Trait-2 - α /- α Hemoglobin  H  Disease (formation  of  β 4   tetramer) --/- α Hydrops  Fetalis (formation  of  Hb  Barts i.e.  ϒ 4 ) --/--
Genetic  changes  in  Beta Thalassemia… ,[object Object],[object Object]
Structure  of  Beta  gene
Types  of  NON-Deletion  Mutation  in  BETA  Thalassemia ,[object Object],[object Object],[object Object]
TYPES  OF  BETA  THALASSEMIA β  -Thalassemias Genetic  Representation β -Thalassemia  Major β + / β + ,  β + / β 0 ,  β 0 / β 0 β -Thalassemia  Intermedia Milder  variants  of  β + / β +  and  β + / β 0 β -Thalassemia  Minor β + / β ,  β 0 / β
Beta  thalassemic  hemoglobinopathies ,[object Object],[object Object],[object Object]
OTHER  FORMS  OF  THALASSEMIA ,[object Object],[object Object]
 

More Related Content

Similar to Thalassemia Clinical Features and Genetic Classification

Similar to Thalassemia Clinical Features and Genetic Classification (15)

thalassemia.ppt
thalassemia.pptthalassemia.ppt
thalassemia.ppt
 
Introduction - thalassemia
Introduction - thalassemiaIntroduction - thalassemia
Introduction - thalassemia
 
Thalassemia-master-Lecture-5.ppt
Thalassemia-master-Lecture-5.pptThalassemia-master-Lecture-5.ppt
Thalassemia-master-Lecture-5.ppt
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
Hemoglobinopathies thalassemia
Hemoglobinopathies   thalassemiaHemoglobinopathies   thalassemia
Hemoglobinopathies thalassemia
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
27 thalassemias
27 thalassemias27 thalassemias
27 thalassemias
 
Alpha thalassemia
Alpha thalassemiaAlpha thalassemia
Alpha thalassemia
 
Thalassaemias - By Sarasjothi
Thalassaemias - By SarasjothiThalassaemias - By Sarasjothi
Thalassaemias - By Sarasjothi
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
Alpha Thalasemia
Alpha ThalasemiaAlpha Thalasemia
Alpha Thalasemia
 
An Overview of Thalassemia
An Overview of Thalassemia An Overview of Thalassemia
An Overview of Thalassemia
 
Thalassemia
ThalassemiaThalassemia
Thalassemia
 
thalassemia.pptx
thalassemia.pptxthalassemia.pptx
thalassemia.pptx
 

More from Wbuhs

Thalassemia Urmimala
Thalassemia UrmimalaThalassemia Urmimala
Thalassemia UrmimalaWbuhs
 
LabORATORY daigonosis thalassemia Chirantan Man
LabORATORY  daigonosis thalassemia Chirantan ManLabORATORY  daigonosis thalassemia Chirantan Man
LabORATORY daigonosis thalassemia Chirantan ManWbuhs
 
Types of muscle contraction ushnish
Types of muscle contraction ushnishTypes of muscle contraction ushnish
Types of muscle contraction ushnishWbuhs
 
Respiratoty response to exercise dipayan
Respiratoty response to exercise dipayanRespiratoty response to exercise dipayan
Respiratoty response to exercise dipayanWbuhs
 
Performance enhancers bad effects of doping avik basu
Performance enhancers bad effects of doping avik basuPerformance enhancers bad effects of doping avik basu
Performance enhancers bad effects of doping avik basuWbuhs
 
Overtraining chirantan mandal
Overtraining chirantan mandalOvertraining chirantan mandal
Overtraining chirantan mandalWbuhs
 
Muscle contraction mechanism chirantan mandal
Muscle contraction mechanism chirantan mandalMuscle contraction mechanism chirantan mandal
Muscle contraction mechanism chirantan mandalWbuhs
 
Long term effects of exercise shubham
Long term effects of exercise shubhamLong term effects of exercise shubham
Long term effects of exercise shubhamWbuhs
 
Exercise and sports in women srimanti
Exercise and sports in women srimantiExercise and sports in women srimanti
Exercise and sports in women srimantiWbuhs
 
Cardiovascular response to exercise avik baxsu
Cardiovascular response to exercise avik baxsuCardiovascular response to exercise avik baxsu
Cardiovascular response to exercise avik baxsuWbuhs
 
Exercise Physiology
Exercise PhysiologyExercise Physiology
Exercise PhysiologyWbuhs
 
Ill Effects of Over Training
Ill Effects of Over Training Ill Effects of Over Training
Ill Effects of Over Training Wbuhs
 

More from Wbuhs (12)

Thalassemia Urmimala
Thalassemia UrmimalaThalassemia Urmimala
Thalassemia Urmimala
 
LabORATORY daigonosis thalassemia Chirantan Man
LabORATORY  daigonosis thalassemia Chirantan ManLabORATORY  daigonosis thalassemia Chirantan Man
LabORATORY daigonosis thalassemia Chirantan Man
 
Types of muscle contraction ushnish
Types of muscle contraction ushnishTypes of muscle contraction ushnish
Types of muscle contraction ushnish
 
Respiratoty response to exercise dipayan
Respiratoty response to exercise dipayanRespiratoty response to exercise dipayan
Respiratoty response to exercise dipayan
 
Performance enhancers bad effects of doping avik basu
Performance enhancers bad effects of doping avik basuPerformance enhancers bad effects of doping avik basu
Performance enhancers bad effects of doping avik basu
 
Overtraining chirantan mandal
Overtraining chirantan mandalOvertraining chirantan mandal
Overtraining chirantan mandal
 
Muscle contraction mechanism chirantan mandal
Muscle contraction mechanism chirantan mandalMuscle contraction mechanism chirantan mandal
Muscle contraction mechanism chirantan mandal
 
Long term effects of exercise shubham
Long term effects of exercise shubhamLong term effects of exercise shubham
Long term effects of exercise shubham
 
Exercise and sports in women srimanti
Exercise and sports in women srimantiExercise and sports in women srimanti
Exercise and sports in women srimanti
 
Cardiovascular response to exercise avik baxsu
Cardiovascular response to exercise avik baxsuCardiovascular response to exercise avik baxsu
Cardiovascular response to exercise avik baxsu
 
Exercise Physiology
Exercise PhysiologyExercise Physiology
Exercise Physiology
 
Ill Effects of Over Training
Ill Effects of Over Training Ill Effects of Over Training
Ill Effects of Over Training
 

Recently uploaded

Call Girl Koramangala | 7001305949 At Low Cost Cash Payment Booking
Call Girl Koramangala | 7001305949 At Low Cost Cash Payment BookingCall Girl Koramangala | 7001305949 At Low Cost Cash Payment Booking
Call Girl Koramangala | 7001305949 At Low Cost Cash Payment Bookingnarwatsonia7
 
Asthma Review - GINA guidelines summary 2024
Asthma Review - GINA guidelines summary 2024Asthma Review - GINA guidelines summary 2024
Asthma Review - GINA guidelines summary 2024Gabriel Guevara MD
 
See the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy PlatformSee the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy PlatformKweku Zurek
 
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort ServiceCollege Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort ServiceNehru place Escorts
 
Call Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknow
Call Girl Lucknow Mallika 7001305949 Independent Escort Service LucknowCall Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknow
Call Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknownarwatsonia7
 
Bangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% Safe
Bangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% SafeBangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% Safe
Bangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% Safenarwatsonia7
 
College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...
College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...
College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...Miss joya
 
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking ModelsMumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Modelssonalikaur4
 
Book Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbers
Book Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbersBook Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbers
Book Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbersnarwatsonia7
 
Call Girls Service Chennai Jiya 7001305949 Independent Escort Service Chennai
Call Girls Service Chennai Jiya 7001305949 Independent Escort Service ChennaiCall Girls Service Chennai Jiya 7001305949 Independent Escort Service Chennai
Call Girls Service Chennai Jiya 7001305949 Independent Escort Service ChennaiNehru place Escorts
 
Sonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Sonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowSonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Sonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowRiya Pathan
 
Call Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort Service
Call Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort ServiceCall Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort Service
Call Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort Serviceparulsinha
 
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment BookingCall Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment BookingNehru place Escorts
 
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...narwatsonia7
 
Artifacts in Nuclear Medicine with Identifying and resolving artifacts.
Artifacts in Nuclear Medicine with Identifying and resolving artifacts.Artifacts in Nuclear Medicine with Identifying and resolving artifacts.
Artifacts in Nuclear Medicine with Identifying and resolving artifacts.MiadAlsulami
 
Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...
Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...
Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...narwatsonia7
 
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...narwatsonia7
 
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service MumbaiLow Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbaisonalikaur4
 
Housewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment Booking
Housewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment BookingHousewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment Booking
Housewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment Bookingnarwatsonia7
 
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowKolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowNehru place Escorts
 

Recently uploaded (20)

Call Girl Koramangala | 7001305949 At Low Cost Cash Payment Booking
Call Girl Koramangala | 7001305949 At Low Cost Cash Payment BookingCall Girl Koramangala | 7001305949 At Low Cost Cash Payment Booking
Call Girl Koramangala | 7001305949 At Low Cost Cash Payment Booking
 
Asthma Review - GINA guidelines summary 2024
Asthma Review - GINA guidelines summary 2024Asthma Review - GINA guidelines summary 2024
Asthma Review - GINA guidelines summary 2024
 
See the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy PlatformSee the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy Platform
 
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort ServiceCollege Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
 
Call Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknow
Call Girl Lucknow Mallika 7001305949 Independent Escort Service LucknowCall Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknow
Call Girl Lucknow Mallika 7001305949 Independent Escort Service Lucknow
 
Bangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% Safe
Bangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% SafeBangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% Safe
Bangalore Call Girls Marathahalli 📞 9907093804 High Profile Service 100% Safe
 
College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...
College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...
College Call Girls Pune Mira 9907093804 Short 1500 Night 6000 Best call girls...
 
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking ModelsMumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
 
Book Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbers
Book Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbersBook Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbers
Book Call Girls in Kasavanahalli - 7001305949 with real photos and phone numbers
 
Call Girls Service Chennai Jiya 7001305949 Independent Escort Service Chennai
Call Girls Service Chennai Jiya 7001305949 Independent Escort Service ChennaiCall Girls Service Chennai Jiya 7001305949 Independent Escort Service Chennai
Call Girls Service Chennai Jiya 7001305949 Independent Escort Service Chennai
 
Sonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Sonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowSonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Sonagachi Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
 
Call Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort Service
Call Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort ServiceCall Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort Service
Call Girls Service In Shyam Nagar Whatsapp 8445551418 Independent Escort Service
 
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment BookingCall Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
 
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
 
Artifacts in Nuclear Medicine with Identifying and resolving artifacts.
Artifacts in Nuclear Medicine with Identifying and resolving artifacts.Artifacts in Nuclear Medicine with Identifying and resolving artifacts.
Artifacts in Nuclear Medicine with Identifying and resolving artifacts.
 
Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...
Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...
Call Girls Electronic City Just Call 7001305949 Top Class Call Girl Service A...
 
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
 
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service MumbaiLow Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
 
Housewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment Booking
Housewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment BookingHousewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment Booking
Housewife Call Girls Hoskote | 7001305949 At Low Cost Cash Payment Booking
 
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowKolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
 

Thalassemia Clinical Features and Genetic Classification

  • 1. THALASSEMIA Clinical Features and Genetic Classification Presented by: : Avik basu MODERATOR : DR. SANTOSH KUMAR MONDAL ASSOCIATE PROFESSOR, PATHOLOGY
  • 2. Eyes Face Skin Spleen Liver Bones
  • 3.
  • 4.
  • 5.
  • 6.
  • 7.
  • 8. Structure of alpha gene
  • 9.
  • 10.
  • 11.  
  • 12. TYPES OF ALPHA THALASSEMIA α -Thalassemias Genetic Representation Silent Carrier - α / αα α -Thalassemia Trait-1 --/ αα α -Thalassemia Trait-2 - α /- α Hemoglobin H Disease (formation of β 4 tetramer) --/- α Hydrops Fetalis (formation of Hb Barts i.e. ϒ 4 ) --/--
  • 13.
  • 14. Structure of Beta gene
  • 15.
  • 16. TYPES OF BETA THALASSEMIA β -Thalassemias Genetic Representation β -Thalassemia Major β + / β + , β + / β 0 , β 0 / β 0 β -Thalassemia Intermedia Milder variants of β + / β + and β + / β 0 β -Thalassemia Minor β + / β , β 0 / β
  • 17.
  • 18.
  • 19.