Introduction to ThalassaemiaIntroduction to Thalassaemia

UK Thalassaemia SocietyUK Thalassaemia Society020 8882 0011 / 01226 765 718020 8882 0011 / 01226 765 718

www.ukts.orgwww.ukts.org

ThalassaemiaThalassaemia

Today I will try to explain what Today 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 Questions Questions

Malaria Malaria

The Beginning Of ThalassaemiaThe Beginning Of Thalassaemia

What is thalassaemia?What is thalassaemia?

Beta thalassaemia majorBeta thalassaemia majorSerious anaemia, inherited from parents – patients Serious anaemia, inherited from parents – patients cannot manufacture cannot manufacture haemoglobinhaemoglobin which carries which carries oxygen in the red blood cellsoxygen in the red blood cells

Estimated 500,000Estimated 500,000Vastly underestimatedVastly underestimated

Globally thousands Globally thousands bourn and die and bourn and die and no one knows about no one knows about them them

Iran 26,000Iran 26,000

Middle East Middle East 120,000120,000

AsiaAsia 300,000300,000 we know aboutwe know about

Carrier incidenceCarrier incidence

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

Untreated thalassaemiaUntreated thalassaemia

Red cells unable to carry oxygen around the Red cells unable to carry oxygen around the bodybodyChild fails to feed/thrive, weaknessChild fails to feed/thrive, weaknessIf untreated, fatal in early childhoodIf untreated, fatal in early childhood

Thalassaemia TreatmentThalassaemia Treatment

Blood transfusionBlood transfusion every 3-4 weeksevery 3-4 weeksBUTBUT

blood contains blood contains IRONIRONChelation drugs Chelation drugs – remove excess iron– remove excess iron

Blood Blood TransfusionTransfusion

MEDSERRBC LeukocyteFilter - Bedside

MEDSERWB LeukocyteFilter - Bedside

Complications of iron overloadComplications of iron overloadCardiac iron deposits Cardiac 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, osteoporosisMONITORING TESTS!MONITORING TESTS!

Treatment Of Iron OverloadTreatment Of Iron Overload

Chelation drugs Chelation drugs – remove excess iron– remove excess iron Desferal – given by injection (12 hours, 5-7 Desferal – 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

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

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 a from 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 old Mainly only applies only to under 8 years old patients patients Gene therapy – not yet available, high riskGene therapy – not yet available, high risk

Thalassaemia in the 21Thalassaemia in the 21stst Century Century

Outlook is positive in the UK where Outlook is positive in the UK where optimum treatment available optimum treatment available **Thalassaemics living into 6Thalassaemics living into 6thth decade decadeCareers, 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

My Involvement My Involvement

I am Parent of a Thalassaemic PatientI am Parent of a Thalassaemic Patient I was one of the founder members of the UK I was one of the founder members of the UK

Thalassaemia SocietyThalassaemia Society I was a Director of the International I was a Director of the International

Thalassaemia Federation for over 12 years Thalassaemia Federation for over 12 years

AfghanistanAfghanistan

CentreCentre Blood Tranf.Blood Tranf. Basic CareBasic Care People are People are

dying there dying there

Sad Story Sad Story had 4 children to T/Mia had 4 children to T/Mia

2 died 2 died

YemenYemen

Training Doctors Training Doctors

With With Little Little Support Support He He Can Can SaveSaveThousands Thousands Of Of LivesLives

Bulgaria BMT ProjectBulgaria BMT Project

Abeera few Abeera few Years Years Back Back and and

MariamMariamwho is who is

no no longerlongerwithwithus us

Abeera “Open Her Eyes” in a London Hospital Abeera “Open Her Eyes” in a London Hospital

From the Death Bed to LifeFrom the Death Bed to Life