Thalassaemia

1. Introduction to ThalassaemiaIntroduction to Thalassaemia
UK Thalassaemia SocietyUK Thalassaemia Society
020 8882 0011 / 01226 765 718020 8882 0011 / 01226 765 718
www.ukts.orgwww.ukts.org

2. ThalassaemiaThalassaemia
 Today I will try to explain whatToday I will try to explain what
Thalassaemia is in a few wordsThalassaemia is in a few words
 Show you some picturesShow you some pictures
 Show you part of a VideoShow you part of a Video
 QuestionsQuestions

3. MalariaMalaria
 The Beginning Of ThalassaemiaThe Beginning Of Thalassaemia

4. What is thalassaemia?What is thalassaemia?
Beta thalassaemia majorBeta thalassaemia major
Serious anaemia, inherited from parents – patientsSerious anaemia, inherited from parents – patients
cannot manufacturecannot manufacture haemoglobinhaemoglobin which carrieswhich carries
oxygen in the red blood cellsoxygen in the red blood cells

6. Estimated 500,000Estimated 500,000
Vastly underestimatedVastly underestimated
 Globally thousandsGlobally thousands
bourn and die andbourn and die and
no one knows aboutno one knows about
themthem
 Iran 26,000Iran 26,000
 Middle EastMiddle East
 120,000120,000
 AsiaAsia
 300,000300,000
 we know aboutwe know about

7. Carrier incidenceCarrier incidence
CyprusCyprus 1 : 71 : 7
South Italy & SardiniaSouth Italy & Sardinia 1 : 101 : 10
GujaratGujarat 1 : 7 – 1 : 101 : 7 – 1 : 10
GreeceGreece 1 : 121 : 12
South IndiaSouth India 1 : 201 : 20
PakistanPakistan 1 : 251 : 25
Punjab/BangladeshPunjab/Bangladesh 1 : 301 : 30
North EuropeNorth Europe 1 : 10001 : 1000

8. Untreated thalassaemiaUntreated thalassaemia
Red cells unable to carry oxygen around theRed cells unable to carry oxygen around the
bodybody
Child fails to feed/thrive, weaknessChild fails to feed/thrive, weakness
If untreated, fatal in early childhoodIf untreated, fatal in early childhood

9. Thalassaemia TreatmentThalassaemia Treatment
Blood transfusionBlood transfusion every 3-4 weeksevery 3-4 weeks
BUTBUT
blood containsblood contains IRONIRON
Chelation drugsChelation drugs – remove excess iron– remove excess iron

10. BloodBlood
TransfusionTransfusion

11. MEDSER
RBC Leukocyte
Filter - Bedside
MEDSER
WB Leukocyte
Filter - Bedside

12. Complications of iron overloadComplications of iron overload
Cardiac iron depositsCardiac iron deposits → heart failure→ heart failure
Liver iron deposits → diabetes, fibrosisLiver iron deposits → diabetes, fibrosis
Growth & fertility problemsGrowth & fertility problems
Loss of bone density, osteoporosisLoss of bone density, osteoporosis
MONITORING TESTS!MONITORING TESTS!

13. Treatment Of Iron OverloadTreatment Of Iron Overload
Chelation drugsChelation drugs – remove excess iron– remove excess iron
 Desferal – given by injection (12 hours, 5-7Desferal – given by injection (12 hours, 5-7
times per weektimes per week
 Ferriprox – tablets or medicineFerriprox – tablets or medicine
 Exjade – drink, once a dayExjade – drink, once a day
All of these have side effectsAll of these have side effects

14. MEDSER Filter Set ™ 60cm Tubing, 10mm - G27 needle gauge

16. Is there a cure?Is there a cure?
Bone marrow/cord blood transplant (HSCT)Bone marrow/cord blood transplant (HSCT)
from a brother/sister – 20% chance of afrom a brother/sister – 20% chance of a
match. Risks – mortality rate 1 : 20, infertilitymatch. Risks – mortality rate 1 : 20, infertility
Mainly only applies only to under 8 years oldMainly only applies only to under 8 years old
patientspatients
Gene therapy – not yet available, high riskGene therapy – not yet available, high risk

17. Thalassaemia in the 21Thalassaemia in the 21stst
CenturyCentury
Outlook is positive in the UK whereOutlook is positive in the UK where
optimum treatment availableoptimum treatment available **
Thalassaemics living into 6Thalassaemics living into 6thth
decadedecade
Careers, relationships, familiesCareers, relationships, families
**does not apply in the developing world,does not apply in the developing world,
where the outlook is not goodwhere the outlook is not good

18. My InvolvementMy Involvement
 I am Parent of a Thalassaemic PatientI am Parent of a Thalassaemic Patient
 I was one of the founder members of the UKI was one of the founder members of the UK
Thalassaemia SocietyThalassaemia Society
 I was a Director of the InternationalI was a Director of the International
Thalassaemia Federation for over 12 yearsThalassaemia Federation for over 12 years

19. AfghanistanAfghanistan
 CentreCentre
 Blood Tranf.Blood Tranf.
 Basic CareBasic Care
 People arePeople are
dying theredying there

20. Sad StorySad Story
had 4 children to T/Miahad 4 children to T/Mia
2 died2 died

21. YemenYemen

22. Training DoctorsTraining Doctors

23. WithWith
LittleLittle
SupportSupport
HeHe
CanCan
SaveSave
ThousandsThousands
OfOf
LivesLives

25. Bulgaria BMT ProjectBulgaria BMT Project

27. Abeera fewAbeera few
YearsYears
BackBack
andand
MariamMariam
who iswho is
nono
longerlonger
withwith
usus

28. Abeera “Open Her Eyes” in a London HospitalAbeera “Open Her Eyes” in a London Hospital

29. From the Death Bed to LifeFrom the Death Bed to Life