THALASSEMIA

Thalassemia isone of anaemia hemolytic hereditary autosomal marked by decrease of speedsynthesis one or more chain polypeptide haemoglobin.

At situation of thalassemia, erythrocyte which be yieldedbody below par and break quicker than normal erytrosite as a result as long aslife of patient perforce depend on blood transfusion so that can lengthen life. 

Thalassemia herediter come from couple bringing the nature of thalassemia withpossibility at born child is 25% having child with heavy thalassemia, 50 %carrier of thalassemia, and 25% possibility free of thalassemia.

Classifying of thalassemia based on type of chain globin that experiencetrouble include :

1. Alfa - thalassemia.
Thalassemia that be caused decrease of synthesis speed of chain alphahaemoglobin that related with deletion at 16 chromosome as a effect decreasesynthesis of chain alfa, so that many chain beta and gamma that have not tyingwith chain of alpha. This situation can trigger forming tetramer of chain betathat be called HbH, and tetramer of gamma chain that be called Hb Barts.

Type of Alfa - thalassemia :

a. Deletion at four chain of alpha.
Called as a hydrops fetalis and usually often be found of Hb Barts. Appear signichterus, enlargement of hepar and lien, and foetus experience anemia. Usuallyoccur death of baby several hour after borne or death in the womb at week of 36- 40. If be done examination of electrophoresis resulting level of Hb 80 - 90 %showing Hb Barts, there is no HbA or HbF.

b. Deletion at three chain of alpha.
Called as a HbH disease and be accompanied with anemia hipochromic micrositer.Forming of HbH can experience precipitation in erythrocyte so that easilyerythrocyte can be destroy. If done examination microscopically can be met theexistence of Heinz Bodies.

c. Deletion at two chain of alpha.
Can be found of anemia hipochromic micrositer mild. Occurring decrease HbA andincrease HbH.
d. Deletion at one chain of alpha.
Called as a silent carrier because three of locus globin still have normalfunction.

2. Beta - thalassemia.
Thalassemia that be caused decrease of synthesis speed of chain betahaemoglobin.

Type of Beta - thalassemia :
a. Thalassemia mayor.
HbA is not produced is at all, appear at baby period new born which be markedwith the existence of anemia microcytic hipochrome, hemolytic,hepatosplenomegali, deformation of skeletal bone, mongoloid face, andenlargement of heart. Often called as a aenemia cooley, aenemia mediterranean,or anemia erythroblastic. One of the physical characteristic from thalassemiais abnormality of bone in the form of cheekbone come into and uppermost bridge( referred gacies cooley ), extrusion of forehead and distance both of eyebecome farther, and bone become weak and brittle.

b. Thalassemia intermediate.

c. Thalassemia minor.
Called as a thalassemia trait. Usually asymptomatic and sometime experiencingof anaemia mild.

Examination of laboratory for the screening and diagnose of thalassemia include:

Routine Hematologyto know level of Hb and corpuscle size.

Examination of hematocrite to see form, colour and maturityof blood cell.

Examination of feritin, SI and TIBC to see status of iron.

Analysis haemoglobin to diagnose and determine type ofthalassemia.

Treatment of thalassemia this time still very depend onregularity in doing matter as follow :
1. Blood transfusion once one month.
Blood transfusion at case that relating with symptom of thalassemia must bedone if level of Hb less than 8, hence require to be boosted up Hb for can stayto reach number 9. Blood transfusion at child too young in order to improvinglevel of Hb have risk can result accumulating ferrum at body organ that becaused damage of erythrocyte and leave ferrum in body so that happened overloadiron, other alternative that can be given routinely is red bean.

2. Chelasion of ferrum with giving deferioksamin five until seven times oneweek.
Chelasion require to be done because blood cell containing haemoglobin thatcontent ferrum required for the metabolism of body. Chelasion be done byinjection of deferioksamin with use of driver syringe. This substance will takeferrum from body and releasing it pass bladder.

3. Bone marrow transplantation.

4. Technology of punca cell ( stem cell ).

To prevent the happening of thalassemia at baby that born, the couple thatmarried require to experience blood test, good to see its level of haemoglobinand also see profile of erythrocyte in body. To be able survive, patient ofthalassemia need routine treatment, such as doing blood transfusion regularlyto take care of Hb rate in body ± 12 gr / dL and doing examination of serumferritin to watch level of ferrum in body. Patient of thalassemia also obligedto avoid salted food or acidified and fermentation product which can improveabsorbtion of ferrum in body.

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