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
•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.
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.
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