about thallasemia

1. ThalassemiaThalassemia
byby
Andleeb SultanaAndleeb Sultana

2. ThalassemiaThalassemia
Genetic disruption of theGenetic disruption of the
synthesis of hemoglobinsynthesis of hemoglobin

3. What is thalassemia?What is thalassemia?
 Genetic blood disorderGenetic blood disorder
 Mutation or deletion of the genesMutation or deletion of the genes
that control globin production.that control globin production.
 Heterogeneous group ofHeterogeneous group of
inherited disordersinherited disorders

4. Etymology:Etymology:
 The name of this conditionThe name of this condition
derives from thederives from the
 Greek Thalassa seaGreek Thalassa sea
 Haema bloodHaema blood
 The term was first used in 1932.The term was first used in 1932.

5. Demographics:Demographics:
 Historically found in warmer areasHistorically found in warmer areas
 Those areas where malaria is also prevalentThose areas where malaria is also prevalent
 Thalassemia provides some protectionThalassemia provides some protection
against malariaagainst malaria
 Resulting in more thal carriers survivingResulting in more thal carriers surviving
malaria epidemicsmalaria epidemics

6. Epidemiology:Epidemiology:
 16% in Mediterranean descendants16% in Mediterranean descendants
 18% carrier rate in Maldives18% carrier rate in Maldives
 1% in Thialand1% in Thialand
 3–8% in populations from Bangladesh,3–8% in populations from Bangladesh,
China,India,Malyasia and PakistanChina,India,Malyasia and Pakistan
 Globally in 2010 it resulted in about 18,000Globally in 2010 it resulted in about 18,000
deathsdeaths

7. Hemoglobin ReviewHemoglobin Review
 Each complex consists of :Each complex consists of :
 Four polypeptide chains, non-covalentlyFour polypeptide chains, non-covalently
boundbound
 Four heme complexes with iron boundFour heme complexes with iron bound
 Four O2 binding sitesFour O2 binding sites

8. Structure of HemoglobinStructure of Hemoglobin

9. ClassificationClassification
 According to the molecular basis of theAccording to the molecular basis of the
globin chain deficit.globin chain deficit.
 Beta- thalassemia.Beta- thalassemia.
 Alpha-thalassemia.Alpha-thalassemia.
Form of the illness eitherForm of the illness either
 Major thalassemiaMajor thalassemia
 Minor thalassemiaMinor thalassemia

10. GeneticsGenetics
 Alpha globins are coded on chromosome 16Alpha globins are coded on chromosome 16
 Four genes in each diploid cellFour genes in each diploid cell
 Gene deletions result in Alpha-Gene deletions result in Alpha-
ThalassemiasThalassemias
Beta globins are coded on chromosome 11Beta globins are coded on chromosome 11
 Two genes in each diploid cellTwo genes in each diploid cell
 Point mutations result in Beta-Point mutations result in Beta-
ThalassemiasThalassemias

11. Alpha ThalassemiasAlpha Thalassemias
 Result from gene deletionsResult from gene deletions
 One deletion—Silent carrier; no clinicalOne deletion—Silent carrier; no clinical
significancesignificance
 Two deletions— mild hypochromicTwo deletions— mild hypochromic
microcytic anemiamicrocytic anemia
 Three deletions—variable severity lessThree deletions—variable severity less
 Four deletions—Hydrops Fetalis; In Utero orFour deletions—Hydrops Fetalis; In Utero or
early neonatal deathearly neonatal death

12. Beta ThalassemiaBeta Thalassemia
 Mutations on chromosome 11Mutations on chromosome 11
 Hundreds of mutations possible in the betaHundreds of mutations possible in the beta
globin gene, therefore beta thalassemia isglobin gene, therefore beta thalassemia is
more diversemore diverse
 Results inResults in excess of alpha globinsexcess of alpha globins
 Result from Point Mutations on genesResult from Point Mutations on genes
 Erythropoiesis increasesErythropoiesis increases

13. Silent carrier:Silent carrier:
 2 functional globin genes2 functional globin genes
 AsymptomaticAsymptomatic
 Complete blood count (CBC)Complete blood count (CBC)
 Mean corpuscular volume (MCV)Mean corpuscular volume (MCV)
 Mean corpuscular hemoglobin (MCH)Mean corpuscular hemoglobin (MCH)
peripheralperipheral

14. Thalassemia minorThalassemia minor
 Minor occurs if you receive the defectiveMinor occurs if you receive the defective
gene from only one parentgene from only one parent
 results in very lightly coloured red bloodresults in very lightly coloured red blood
 chronic hemolytic anemiachronic hemolytic anemia
 symptomatic at birthsymptomatic at birth
 mild disordermild disorder
 HepatosplenomegalyHepatosplenomegaly

15. Thalassemia majorThalassemia major
 Inherit the defective gene from both parentsInherit the defective gene from both parents
to develop thalassemia major.to develop thalassemia major.
 Beta-thalassemia major is also known asBeta-thalassemia major is also known as
Cooley's anemiaCooley's anemia
 Alpha-thalassemia major is also referred to asAlpha-thalassemia major is also referred to as
hydrops fetalishydrops fetalis

16. InheritanceInheritance

19. Laboratory Diagnosis ofLaboratory Diagnosis of
ThalassaemiaThalassaemia

20. Laboratory FindingsLaboratory Findings
 Hb concentration – DecreasedHb concentration – Decreased
 ESR – Mild increasedESR – Mild increased
 WBC – Neutrophilic leucocytosis or normalWBC – Neutrophilic leucocytosis or normal
 RBC count – Markedly decreasedRBC count – Markedly decreased
 PCV – Markedly decreasedPCV – Markedly decreased
 MCV, MCH, MCHC – reducedMCV, MCH, MCHC – reduced
 Reticulocyte count – IncreasedReticulocyte count – Increased
 Platelet count – May be increasedPlatelet count – May be increased

21. Syptoms andSyptoms and
diagnosisdiagnosis

22. Thalassemia symptoms:Thalassemia symptoms:
 Marked overgrowth of the maxillaeMarked overgrowth of the maxillae
 Ribs and long bones becoming boxlike andRibs and long bones becoming boxlike and
convexconvex
 Affected by liver and spleen enlargement orAffected by liver and spleen enlargement or
jaundicejaundice
 Rapid breakdown of haemoglobin.Rapid breakdown of haemoglobin.
 Gall bladder disease, leg ulcers and folic acidGall bladder disease, leg ulcers and folic acid
deficiency also present.deficiency also present.
 Acute anaemia (haemolytic crises)Acute anaemia (haemolytic crises)

24. Diagnosis of Thalassemia:Diagnosis of Thalassemia:
 Blood tests and family genetic studiesBlood tests and family genetic studies
 Prenatal testing can be done around the 11thPrenatal testing can be done around the 11th
week of pregnancy using chorionic villiweek of pregnancy using chorionic villi
sampling (CVS)sampling (CVS)
 Polymerase chain reaction (PCR) evaluationPolymerase chain reaction (PCR) evaluation
should be performed for globin-chainshould be performed for globin-chain
analysis.analysis.

26. TreatmentTreatment
interventionsinterventions

28.  Blood transfusionsBlood transfusions
 Bone marrow transplantBone marrow transplant
 Selectively implantedSelectively implanted
 Folic acid supplementFolic acid supplement
 Pre-implantation genetic diagnosis(PGD),Pre-implantation genetic diagnosis(PGD),
used in conjunction with in vitro fertilizationused in conjunction with in vitro fertilization
 Gene Therapy Offers Hope for a CureGene Therapy Offers Hope for a Cure

29. MedicationsMedications ::
 Thalassemia traits do not require medical orThalassemia traits do not require medical or
follow-up carefollow-up care
 Severe thalassemia require medicalSevere thalassemia require medical
treatmenttreatment
 Deferoxamine is only effective via dailyDeferoxamine is only effective via daily
injectionsinjections
 Deferasirox has the benefit of being an oralDeferasirox has the benefit of being an oral
medicationmedication
 Deferiprone is given as an oral medicationDeferiprone is given as an oral medication

30. Related health issues:Related health issues:
Increased risk of asthmaIncreased risk of asthma
HyperlipidemiaHyperlipidemia
Mood disorderMood disorder
Risk factor of depressionRisk factor of depression

31. Long-Term Outlook forLong-Term Outlook for
Thalassemia:Thalassemia:
 Prognosis for thalassemiaPrognosis for thalassemia
 Mild or minor forms lead normal livesMild or minor forms lead normal lives
 Severe cases, Heart failure may occur in theSevere cases, Heart failure may occur in the
20s.20s.
 Stop inter marriagesStop inter marriages
 Public awarenessPublic awareness

34. Helping sufferers is thalassemiaHelping sufferers is thalassemia
survivor’s aim:survivor’s aim:
 Indian Red Cross SocietyIndian Red Cross Society
 Seminar held on 8Seminar held on 8thth
May,2014 at ShifaMay,2014 at Shifa
International Hospital IslamabadInternational Hospital Islamabad
 five percent of the population of the countryfive percent of the population of the country
is Thalassemia carrier and majority of themis Thalassemia carrier and majority of them
belongs to Baluchistan.belongs to Baluchistan.

35. Refferences:Refferences:
 Senior Physician Jonas Abrahamsson, Queen SilviaSenior Physician Jonas Abrahamsson, Queen Silvia
Children's Hospital, SE-416 85 Göteborg, Sweden.Children's Hospital, SE-416 85 Göteborg, Sweden.
 Professor Rolf Ljung, Paediatric Clinic, MalmöProfessor Rolf Ljung, Paediatric Clinic, Malmö
University Hospital, SE-205 02University Hospital, SE-205 02
 Malmö, Professor Ildiko Marky, Queen SilviaMalmö, Professor Ildiko Marky, Queen Silvia
Children's Hospital, SE-416 85 Göteborg, Sweden.Children's Hospital, SE-416 85 Göteborg, Sweden.
 The Thalassemia International Federation is anThe Thalassemia International Federation is an
international patient associationinternational patient association
 The Swedish Paediatric Haematology Health CareThe Swedish Paediatric Haematology Health Care
Planning Group (Vårdplaneringsgruppen förPlanning Group (Vårdplaneringsgruppen för
pediatrisk hematologi, VPH),pediatrisk hematologi, VPH),