THALASSEMIA IS THE NAME GIVEN TO A GROUP OF GENETIC BLOOD DISORDER,INHERITED RECESSIVELY BY OFF SPRINGS THAT CAUSES THE BODY TO PRODUCE UNHEALTHY RED BLOOD CELLS AND LESS HEMOGLOBIN.PATIENTS HAVE A LOWER-THAN-NORMAL NUMBER OF RED BLOOD CELLS IN THEIR BODIES AND TOO LITTLE HEMOGLOBIN. IN MANY CASES THE RED BLOOD CELLS ARE TOO SMALL.

IT IS CAUSED BY MUTATIONS IN THE GENES THAT MAKE

HEMOGLOBIN.

(HEMOGLOBIN IS THE COMPONENT IN THE RED BLOOD

CELLS THAT CARRIES OXYGEN TO TRASPORTED TO ALL

THE BODY CELLS)

IT IS MADE UP OF TWO PROTIEN CHAINS.

-ALPHA PROTIEN CHAIN

-BETA PROTIEN CHAIN

WHEN EITHER OF THEM ARE NOT PRODUCED

PROPERLY,IT LEADS TO DEFORMATION OFF RED BLOOD

CELL.

HENCE THE RED BLOOD CELLS BECOME

UNHEALTHYAND CAN NOT FUNCYION PROPERLY.

WHEN THE BODY DOESNOT PRODUCE ENOUGH ALPHA PROTIEN OR ITHERE IS A MUTATION THAT AFFECTS ALPHA CHAIN PROTIEN THIS CAUSES ALPHA THALASSEMIA

THE ALPHA CHAIN IS MADE OF 4 GENES.

THE SEVERITY OF THIS DISORDER DEPENDS ON HOW MANY OF THOSE 4 GENES ARE MUTATED

IF ONE OF THE GENES IS MUTATED ,THERE IS LITTLE OR NO AFFECT ON THE PERSON’S HEALTH(SILENT CARRIER)

IF TWO OF THE GENES ARE MUTATED ,THERE MAY BE SYMPTOM SUCH AS MILD ANEMIA .

IF 3 OF THE GENES ARE MUTATED ,IT WILL RESULT IN A DISORDER CALLED HEMOGLOBIN H DISEASE AND PEOPLE WITH IT WILL SUFFER FROM CHRONIC ANEMIA

AND IF 4 GENES ARE MUTATED IT WILL RESULT IN THE MOST SEVERE CASE OF THALASSEMIA ,IN WHICH NORMAL HEMOGLOBIN IS NOT PRODUCED

PEOPLE WHO SUFFER FROM BETA THALASSEMIA DONOT

PRODUCE ENOUGH BETA PROTIEN BECAUSE THE BETA

PROTIEN GENE IS MUTATED OR ABNORMAL AND DOESNOT

PRODUCE BETA PROTIEN NORMALLY.

THIS CONDITION IS MOSTLY FOUND IN PEOPLE IN OF

ITALIAN OR GREEK DESCENTS, AND ALSO IN PEOPLE FROM

THE ARABIAN PENINSULA , IRAN,AFRICA AND CHINA.

PEOPLE WITH BETA THALASSEMIA HAVE LOW LEVEL OF

HEMOGLOBIN,WHICH LEADS TO LACK OF OXYGEN IN

MANY PARTS OF THE BODY.

THE AFFECTED PEOPLE SUFFER FROM ANEMIA .

ANEMIA CAN CAUSE PROBLEMS SUCH AS PALE SKIN,

WEAKNESS,FITUGUE ,ECT

WHEN BOTH PARENTS HAVE TRAITS

THERE ARE 3 POSSIBLE OUT COMES

IN EVERY CHILD BORN

•FATIGUE

•WEAKNESS

•SHORTNESS OF BREATH

•A YELLOW DISCOLORATION OF THE

SKIN(JAUNDICE)

•STUNTED OF GROWTH

•BONE DEFORMATIES

A DOCTOR WHO IS TRYING TO DIAGNOSE THALASSEMIA

WILL TAKE A BLOOD SAMPLE. IT WILL BE TESTED FOR

ANEMIA AND FOR ABNORMAL HEMOGLOBIN.

A LAB TECHNICIAN WILL ALSO LOOK AT THE BLOOD

UNDER A MICROSCOPE TO SEE IF THE RED BLOOD CELLS

APPEAR ABNORMAL.

ABNORMALLY SHAPED RED BLOOD CELLS ARE A

SYMPTOM OF THALASSEMIA. ANOTHER TEST MAY BE

PERFORMED CALLED HEMOGLOBIN ELECTROPHORESIS.

THIS TEST SEPARATES OUT THE DIFFERENT MOLECULES IN

THE RED BLOOD CELLS, ALLOWING THE ABNORMAL TYPE

TO BE IDENTIFIED

THERE IS NO MEDICATION THAT CAN CURE THALASEMIA , HOWEVER THERE ARE PROCEDURES TAT CAN HELP THALASEMIA PATIENTS.

PEOPLE WITH LESS SEVER TYPE OF THALASEMIA DO NOT REQUIRE TREATMENT AS THE AFFECT O THE DISEASE ON THEM IS INSIGNEFICANT.

THE MAIN TREATMENT FOR INDIVIDUALS WHO HAVE MODERATE TO SEVERE CASE OF THALASSEMIA IS BLOOD TRANSFUSION.

THE TREAMENT PROVIDED THE PATIENTS WITH THE HEALTHY RED BLOOD CELLS AND NORMAL HEMOGLOBIN THE BODY NEEDS.

BLOOD TRANSFUSION

BLLOD TRANSFUSION ADDS IRON TO THE BLOOD

STREAM AND IT MAY DAMAGE THE LIVER ,HEART AND

OTHER PARTS OF THE BODY.

BECAUSE OF THE IRON BUILD UP THE PATIENTS MUST

UNDER GO TREATMENT TO REMOVE THE EXTRA IRON

.THIS TREATMENT IS CALLED CHELATION THERAPY.

CHELATION THERAPY

I learnt that thalassemia is a serious

blood disorder and it’s a matter

that should be taken seriously and

immediate treatment is needed

for people with thalassemia

This disease is linked to many other

illnesses .greatly linked to anemia.

PICTURE /GRAPHICS FROM GOOGLE

INFORMATION:

https://www.youtube.com/watch?v=daXo

vBEprW8

http://www.thalassemia.org/learn-about-

thalassemia/about-thalassemia/

http://www.nytimes.com/health/guides/dis

ease/thalassemia/overview.html

www.thalassemia.com/living-with-thal-patient-stories.DiLorenzo.aspx

www.thalassemia.ca/

www.thalassemia-dubai.com/en/thalassemia-at-a.../related-links-.aspx