thalassaemia
TRANSCRIPT
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Presented ByPresented By
Dr. Md. Salahuddin ShahDr. Md. Salahuddin ShahAssistant Professor of HematologyAssistant Professor of Hematology
BSMMU, Shahbag,Dhaka.BSMMU, Shahbag,Dhaka.
Prevent thalassaemia & save the Nation
LAB ONE Thalassaemia Foundation
ThalassaemiaThalassaemia
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Disorders of HaemoglobinDisorders of Haemoglobin
1. Thalassaemia1. Thalassaemia
2. Haemoglobinopathies2. Haemoglobinopathies
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Demographics: ThalassemiaDemographics: Thalassemia
• Found most Found most frequently in the frequently in the Mediterranean, Mediterranean, Africa, Western and Africa, Western and Southeast Asia, Southeast Asia, India and BurmaIndia and Burma
• Distribution Distribution parallels that of parallels that of Plasmodium Plasmodium falciparumfalciparum
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Incidence (carrier )
WORLD
Beta thalassemia trait 8% of population More than 100 milions carrier Haemoglobin E 53 milions
BANGLADESH
Beta thalassemia trait 4.1%
Haemoglobin E trait 6.1%
Combine Beta thalassemia & E trait 10.2%
GLOBAL ISSUESGLOBAL ISSUES
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Beta Thalassaemia & Hb-E Beta Thalassaemia (Major)
Expected Beta thalassemia Major - 52,017
Expected HbE Beta thalassemia - 3,22, 137
Expected Beta thalassemia Major born per year – 1040
Expected HbE Beta thalassemia born per year – 6443
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What is Thalassaemia ?What is Thalassaemia ? Thalassaemia is a group of Thalassaemia is a group of
inherited disorders of inherited disorders of hemoglobin synthesis hemoglobin synthesis characterized by a reduced or characterized by a reduced or absent output of one or more of absent output of one or more of the globin chains of adult the globin chains of adult hemoglobin .hemoglobin .
The name is derived from the The name is derived from the Greek words Thalasso = Sea" Greek words Thalasso = Sea" and "Hemia = Blood" in and "Hemia = Blood" in reference to anemia of the sea.reference to anemia of the sea.
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Types of Thalassaemia :Types of Thalassaemia :
There are tThere are two basic groups of wo basic groups of thalassaemia.thalassaemia.
Alpha ( Alpha ( )Thalassaemia )Thalassaemia
Beta ( Beta ( )Thalassaemia )Thalassaemia
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HaemoglobinopathiesHaemoglobinopathies
Haemoglobinopathies are Haemoglobinopathies are characterized by the production characterized by the production of structurally defective of structurally defective Haemoglobin due to Haemoglobin due to abnormalities in the formation of abnormalities in the formation of globin moiety of the molecule.globin moiety of the molecule.
Haemoglobin E trait
Haemoglobin E diseases
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Heme portion of Heme portion of haemoglobinhaemoglobin
Globin portion of haemoglobinGlobin portion of haemoglobin
HaemoglobinHaemoglobin
Haemoglobin is a Haemoglobin is a conjugated protein.conjugated protein.Present within the RBCPresent within the RBC
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Normal Human Normal Human HaemoglobinsHaemoglobinsHaemoglobiHaemoglobi
nnStructural Structural formulaformula
AdultAdult Hb-AHb-A 2 2 2 2 97%97%
Hb-AHb-A22 2 2 2 2 1.5-1.5-
3.2%3.2%
FetalFetal Hb-FHb-F 2 2 2 2 0.5-0.5-
1%1%
Hb-Bart’sHb-Bart’s 44
EmbryonicEmbryonic Hb-Gower Hb-Gower 11
2 2 22
Hb-Gower Hb-Gower 22
2 2 22
Hb-Hb-PortlandPortland
2 2 22
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The common abnormal The common abnormal haemoglobinshaemoglobins
HaemoglobinHaemoglobin Structural formulaStructural formula
Hb-SHb-S 2 2 2 2 6 glu 6 glu val val
Hb-CHb-C 2 2 2 2 6 glu 6 glu lys lys
Hb-EHb-E 2 2 2 2 26 glu 26 glu lys lys
Hb-D PunjabHb-D Punjab 2 2 2 2 121 glu 121 glu gln gln
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Normal Normal RBCRBC
Haemoglobin in Haemoglobin in RBCRBC
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Origin & Development of Red Origin & Development of Red Blood CellBlood Cell
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←←Bone Marrow Sites & Bone Marrow Sites & FunctionsFunctions
Bone Bone MarrowMarrow
↓↓
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ChromosomesChromosomes
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Types of Beta Thalassaemia Types of Beta Thalassaemia ::
There are 3 types of Beta thalassaemia :There are 3 types of Beta thalassaemia :
1.1. Thalassaemia MinorThalassaemia Minor
2.2. Thalassaemia IntermediateThalassaemia Intermediate
3.3. Thalassaemia MajorThalassaemia Major
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Signs & SymptomsSigns & Symptoms Thalassaemia Minor : Usually no signs or symptoms except for a mild anemia.
Thalassaemia Major :Thalassaemia Major :1. Paleness, Jaundice or yellow coloured skin.2. Growth retardation.3. Bony abnormalities specially of the facial bones.4. Enlarged spleen and liver.
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Laboratory DiagnosisLaboratory Diagnosis Thalassemia minor:Thalassemia minor: Haemoglobin : Haemoglobin level is Haemoglobin : Haemoglobin level is
usually normal or mildly reduced. usually normal or mildly reduced. Peripheral blood film : Hypochromia Peripheral blood film : Hypochromia
and Microcytosis (similar to Iron and Microcytosis (similar to Iron Deficiency Anemia).Deficiency Anemia).
MCV< 75 fl, MCV< 75 fl, RDW < 14%.RDW < 14%. Haemoglobin electrophoresisHaemoglobin electrophoresis HPLCHPLC DNA analysisDNA analysis
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Thalassemia major :Thalassemia major : Blood film : Blood film :
RBC : profound microcytic with RBC : profound microcytic with extreme extreme hypochromia, tear hypochromia, tear drop, target drop, target cells and nucleated cells and nucleated RBCs.RBCs.
Hemoglobin may be very low at 3-4 g/dl.Hemoglobin may be very low at 3-4 g/dl. Haemoglobin ElectrophoresisHaemoglobin Electrophoresis
Laboratory Diagnosis (Cont)Laboratory Diagnosis (Cont)
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Haemoglobin Haemoglobin electrophoresiselectrophoresis
AA
FF
SS
CC
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Course and treatment of Course and treatment of thalassaemiathalassaemiaUntreated Untreated
thalassemia thalassemia Major Major : :
Death in first or second Death in first or second
decade of life decade of life
IntermediaIntermedia: variable life span: variable life span
Minor/MinimaMinor/Minima: Normal life span: Normal life span
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Thalassaemia major life Thalassaemia major life expectancyexpectancy
Without regular transfusionWithout regular transfusion Less than Less than 10 years10 years
With regular transfusion and With regular transfusion and no/poor iron chelationno/poor iron chelation Less than Less than 25 years25 years
With regular transfusion and With regular transfusion and good iron chelationgood iron chelation ??40 years, ?longer????40 years, ?longer??
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Management and treatment
Thalassemia minor (trait) :
No need for any treatment, since the carriers are usually symptomless.
Thalassemia major:
The severe life-threatening anemia, requires regular life long blood transfusion, to compensate for damaged red blood cells.
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““Regular transfusions”Regular transfusions”
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““Regular transfusions”Regular transfusions” Start within 1Start within 1stst year of life year of life
Usually every 4-6 weeks – Usually every 4-6 weeks – THROUGHOUT LIFETHROUGHOUT LIFE
maintain Hb 9-10.5g/dl
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Regular blood transfusionRegular blood transfusion Safe Blood transfusionSafe Blood transfusion
Screening test for donarScreening test for donarMPMPVDRLVDRLHIVHIVHCVHCVHBsAgHBsAg
Full blood group, genotype should be obtained Full blood group, genotype should be obtained before the first transfusion.before the first transfusion.
Pre & post trasfusion Haemoglobin level.Pre & post trasfusion Haemoglobin level. Assessment of body iron statusAssessment of body iron status
by Serum ferritinby Serum ferritin Hepatic iron concentrationHepatic iron concentration
Children : liver biopsy Children : liver biopsy annually or at least every 2 – 3 years.annually or at least every 2 – 3 years.
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““Regular transfusions” (cont)Regular transfusions” (cont)
■ ■ Regular assessment of potential complications:Regular assessment of potential complications:
Growth charts, Growth charts, Checks for diabetes, Checks for diabetes, Done density scans, Done density scans, Cardiac and liver MRI scans.Cardiac and liver MRI scans.
■■ Chronic iron overload Chronic iron overload ■■ Infection through blood transfusions Infection through blood transfusions ■■ Viral hepatitis, HIV, HCV, Malaria, Syphilis. Viral hepatitis, HIV, HCV, Malaria, Syphilis. ■ ■ Other blood borne infectionsOther blood borne infections
■ ■ COST ???COST ???
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Transfusion services in Transfusion services in DhakaDhakaScreening TestsScreening Tests HospitalHospital RateRate
MPMP
VDRLVDRL
HCVHCV
HBsAgHBsAg
HIVHIV
Others :Others :
GroupingGrouping
Cross matchingCross matching
BSMMUBSMMU Tk. 600/-Tk. 600/-
Red CrescentRed Crescent Tk. 760/-Tk. 760/-
BIRDEMBIRDEM Tk. 1000/-Tk. 1000/-
QuantumQuantum Tk. 600/-Tk. 600/-
Apolo / SquareApolo / Square Tk. 2500/-Tk. 2500/-
Other General Clinic Other General Clinic & Hospitals& Hospitals(Screening tests : Done (Screening tests : Done according to the desire according to the desire of the patient)of the patient)
Tk. 50-100/-Tk. 50-100/-
Tk. 150-200/-Tk. 150-200/-
Tk. 300-600/-Tk. 300-600/-
Tk. 200-300/-Tk. 200-300/-
Tk. 300-600/-Tk. 300-600/-
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Lab One Thalassaemia Lab One Thalassaemia FoundationFoundation
All Screening tests +All Screening tests +
Day care service (Blood transfusion) +Day care service (Blood transfusion) +
Grouping & Cross matching +Grouping & Cross matching +
Consultation (By Haematologist) =Consultation (By Haematologist) =
Tk. 800/- only.Tk. 800/- only.
(Only for thalassaemic patients)(Only for thalassaemic patients)In case of donation (blood bag & test In case of donation (blood bag & test
reagents) reagents)
we can reduce the charges by 50%. we can reduce the charges by 50%.
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Complications of iron Complications of iron overloadoverload
Multi-organ failureMulti-organ failure Endocrine organsEndocrine organs
Growth failureGrowth failure DiabetesDiabetes Thyroid failureThyroid failure Gonadal failure - infertilityGonadal failure - infertility
CardiacCardiac LiverLiver
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IRON CHELATIONIRON CHELATIONIRON CHELATIONIRON CHELATION
ChelatorChelator
PrescriptionPrescription
Follow upFollow up
ChelatorChelator
PrescriptionPrescription
Follow upFollow up
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STANDARD TREATMENTSTANDARD TREATMENT
Desferrioxamine (Desferal®)Desferrioxamine (Desferal®)20-60 mg/kg/day20-60 mg/kg/day10% solution10% solution8-12 hours s.c. slow infusion8-12 hours s.c. slow infusionportable pumpportable pump7 days a week7 days a week
STANDARD TREATMENTSTANDARD TREATMENT
Desferrioxamine (Desferal®)Desferrioxamine (Desferal®)20-60 mg/kg/day20-60 mg/kg/day10% solution10% solution8-12 hours s.c. slow infusion8-12 hours s.c. slow infusionportable pumpportable pump7 days a week7 days a week
Management of iron chelating Management of iron chelating therapytherapy
Management of iron chelating Management of iron chelating therapytherapy
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Management of iron chelating Management of iron chelating therapytherapy
Management of iron chelating Management of iron chelating therapytherapy
WHEN TO START CHELATIONWHEN TO START CHELATION
transferrin saturation at 100%transferrin saturation at 100%10-20 units transfused 10-20 units transfused serum ferritin > 1000 serum ferritin > 1000 g/Lg/LLiver Iron Concentration > 1 mg/g Liver Iron Concentration > 1 mg/g
w.w.w.w.
WHEN TO START CHELATIONWHEN TO START CHELATION
transferrin saturation at 100%transferrin saturation at 100%10-20 units transfused 10-20 units transfused serum ferritin > 1000 serum ferritin > 1000 g/Lg/LLiver Iron Concentration > 1 mg/g Liver Iron Concentration > 1 mg/g
w.w.w.w.
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Iron ChelationIron ChelationIron ChelationIron Chelation
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SECOND LINE TREATMENTSECOND LINE TREATMENT
Deferiprone (Ferriprox®)Deferiprone (Ferriprox®)
50-100 mg/kg/day orally50-100 mg/kg/day orally
three times a daythree times a day
SECOND LINE TREATMENTSECOND LINE TREATMENT
Deferiprone (Ferriprox®)Deferiprone (Ferriprox®)
50-100 mg/kg/day orally50-100 mg/kg/day orally
three times a daythree times a day
Management of iron chelating Management of iron chelating therapytherapy
Management of iron chelating Management of iron chelating therapytherapy
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-EU Approval Aug 06
-Once daily orally (as a drink)
-Approved for age 6 and above
-(Expensive!)
New Developments in Iron Chelation
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Asunra Asunra (Deferasirox) (Deferasirox)
Iron OverloadIron Overload
ThalessemiaThalessemia Myelodysplastic Myelodysplastic SyndromesSyndromes
Sickle CellSickle Cell
ICL670ICL670Setting the Stage for a Revolution In Iron ChelationSetting the Stage for a Revolution In Iron Chelation
Iron Chelation Therapy
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Iron Overload from Iron Overload from TransfusionsTransfusions
With repeated blood transfusion, With repeated blood transfusion,
iron accumulatesiron accumulates Iron overload can lead to early Iron overload can lead to early
mortalitymortality1,21,2
Current therapy using IV pump is Current therapy using IV pump is
unpleasant, life altering and unpleasant, life altering and
dramatically reduces compliancedramatically reduces compliance DesferalDesferal®® (deferoxamine) (deferoxamine) Subcutaneous slow infusion 5-7 Subcutaneous slow infusion 5-7
nights/weeknights/week Infusion-site reactions and painInfusion-site reactions and pain
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Asunra (deferasirox):Asunra (deferasirox):A Novel Oral Iron ChelatorA Novel Oral Iron Chelator
Selected from more than Selected from more than
700 compounds tested700 compounds tested Tridentate* iron chelatorTridentate* iron chelator
An oral, dispersible tabletAn oral, dispersible tablet Administered once dailyAdministered once daily Highly specific for ironHighly specific for iron
Chelated iron excreted Chelated iron excreted
mainly in feces (<10% in mainly in feces (<10% in
urine)urine)
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Lv`¨ Lv`¨ mvgMÖmvgMÖxi bvg xi bvg
AwaK †jŠnhy³ Lvevi AwaK †jŠnhy³ Lvevi (Iron rich diet)(Iron rich diet)
Kg †jŠn hy³ Lvevi Kg †jŠn hy³ Lvevi (Iron poor diet)(Iron poor diet)
gvsm I gvsm I gvsmRvgvsmRvZxq Zxq Lvevi Lvevi
Mi“i gvsm, Lvkxi Mi“i gvsm, Lvkxi gvsm, KwjRv, wW‡gi gvsm, KwjRv, wW‡gi Kzmyg, Bwjk, ˆK, Kzmyg, Bwjk, ˆK, wPswo, wPZj I †QvU wPswo, wPZj I †QvU gv‡Qi ïUwK| gv‡Qi ïUwK|
i“B , KvZj, cvsMvm, i“B , KvZj, cvsMvm, †evqvj, gv¸i , micywU I †evqvj, gv¸i , micywU I cywU gvQ| cywU gvQ|
kvK kvK mewRmewR
KPz kvK, jvjkvK, KPz kvK, jvjkvK, cvjskvK, cyuBkvK, cvjskvK, cyuBkvK, dzjKwc, cyw`bv cvZv , dzjKwc, cyw`bv cvZv , a‡b cvZv, wmg, eiewU a‡b cvZv, wmg, eiewU gUiïwU, KvK‡ivj, gUiïwU, KvK‡ivj, KvuPv‡cu‡c, mvRbv| KvuPv‡cu‡c, mvRbv|
evuavKwc, wgwóAvjy , evuavKwc, wgwóAvjy , Kijv, kkv, wgwó, Kijv, kkv, wgwó, Kzgov, †pom, †e¸b, Kzgov, †pom, †e¸b, g~jv, kvjMg, Av‡cj , †ej g~jv, kvjMg, Av‡cj , †ej , Rvgi“j, AvZv, , Rvgi“j, AvZv, AvgjwK , KvMwR‡jey| AvgjwK , KvMwR‡jey|
dj dj Avbvim, †e`vbv, Avbvim, †e`vbv, kwidv, †LRyi, ZigyR| kwidv, †LRyi, ZigyR|
cvKv Avg , wjPz, cvKv Avg , wjPz, †cqviv, Kjv, cvKv †cqviv, Kjv, cvKv †cu‡c, Kgjv‡jey, Av‡cj, †cu‡c, Kgjv‡jey, Av‡cj, †ej, Rvgi“j, AvZv, †ej, Rvgi“j, AvZv, AvgjwK| AvgjwK|
Lv`¨ kl¨ Lv`¨ kl¨ Ges Zv Ges Zv †_‡K †_‡K ‰Zwi ‰Zwi Lvevi Lvevi
ˆL, wkï Lv`¨ †hLv‡b ˆL, wkï Lv`¨ †hLv‡b †jŠn mshy³ Kiv Av‡Q †jŠn mshy³ Kiv Av‡Q †hgb (†hgb (cerelaccerelac), KvD(), KvD(cowcow) ) Ges †MU(Ges †MU(gategate) BZ¨vw` ) BZ¨vw`
Pvj, gq`v|Pvj, gq`v|
Wvj Wvj ‡‡Qvjv, †Qvjvi Wvj| Qvjv, †Qvjvi Wvj| gmyi Wvj| gmyi Wvj|
wewea wewea ¸o, ev`vg, Pxbvev`vg, ¸o, ev`vg, Pxbvev`vg, wKmwgm, wZj, cvb, wKmwgm, wZj, cvb, a‡b, mwilv| a‡b, mwilv|
gay, `ya I `y»RvZ gay, `ya I `y»RvZ Lvevi h_v: `B, Qvbv, Lvevi h_v: `B, Qvbv, cwbi, im‡Mvj v BZ¨vw`| cwbi, im‡Mvj v BZ¨vw`|
_¨vjvwmwgqv †ivMxi Lv`¨_¨vjvwmwgqv †ivMxi Lv`¨
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• F-Globin Induction Agent HydreaAzacytidine Sodium phenylbutyrate Epo
• Bone Marrow transplantationNo convincing data Expensive
• Gene Therapy Inserting healthy genes into stem cells and transplanting
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Splenectomy
Indications :
• Trasfusion requirements increased --------
50% in 6 months
• RBCs per year >250ml/kg
• Severe leukopenia or thrombocytopenia
• Massive splenomegaly
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• Blood donation
• Motivate others to donate blood. • Spread this message to others. • Donate something from your hard earned money to the society.
WHAT WE CAN DO?
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Prevention of thalassaemia?Prevention of thalassaemia?
Awareness.Awareness. Screening tests.Screening tests. Genetic counseling.Genetic counseling. Prenatal diagnosis and therapeutic Prenatal diagnosis and therapeutic
abortion. abortion.
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PRENATAL TESTINGPRENATAL TESTING
AmniocentesisAmniocentesis
Chorionic biopsyChorionic biopsy
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INVASIVE MODES OF SAMPLE INVASIVE MODES OF SAMPLE COLLECTIONCOLLECTION
AmniocentesisAmniocentesis Around the 16Around the 16thth week of gestation week of gestation
Chorionic villus samplingChorionic villus sampling Before 10 week of pregnancyBefore 10 week of pregnancy
Foetal blood samplingFoetal blood sampling At about 18-20 weeks of pregnancyAt about 18-20 weeks of pregnancy
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PRIMARY TARGET COUPLE
One thalassaemic baby The families of the patients & carriers
Carrier- carrier identify
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CONCLUSION & RECOMMENDATIONS
☺To design, implement, reinforce comprehensive national and integrated program ☺ Surveillance, dissemination of information, awareness raising screening program
☺ Intensify training health professionals
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CONCLUSION & RECOMMENDATIONS- CONT
☺ Develop and strengthen medical service☺ Promote community education☺ International cooperation☺ Basic and applied research on thalassemia ☺ To consider world health day on thalassemia the near future
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AIM and OBJECTIVES ofAIM and OBJECTIVES of LAB ONE Thalassaemia LAB ONE Thalassaemia
FoundationFoundation To establish an integrated To establish an integrated
thalassaemia hospital.thalassaemia hospital. To develop facilities for safe blood To develop facilities for safe blood
transfusion.transfusion. To organize a thalassaemia donor To organize a thalassaemia donor
club.club. To create facilities for prenatal To create facilities for prenatal
diagnosis and DNA analysis.diagnosis and DNA analysis. To make awareness among To make awareness among
populations about thalassaemia.populations about thalassaemia.
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We have taken One year action plan :We have taken One year action plan :
Thalassaemia screening Thalassaemia screening programme.programme.
Exchange views & knowledges Exchange views & knowledges among among others thalassaemia foundation others thalassaemia foundation through through our website & CME programs. our website & CME programs.
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