Blood Disease

ENGLISH FOR SPECIFIC PURPOSES
 Pirdayasa Hikmah (2016-124)

 Fredy Satriandi (2016-127)
 Taskia Rindanig R. (2016-136)
 Laras Pamekas W. (2016-150)
 Budian Nur Pangestu (2016-155)
 Nuzulul Lalili (2016-188)
 the term thalassemia is derived from the Greek word,
which means Talassa is Taut , At first the term was used by
Whipple and Bradford in 1936. What is meant by the Taut is
the Mediterranean, because the disease is first known in
the area around the Mediterranean Sea. Actual symptoms
of the disease has been known since 1925 by COOLEY and
LEE so the disease is also called COOLEY disease.
Thalassemia is the biggest genetic disease in the world. According to WHO, there are
250 million (4,5%) people carry the genetics. Indonesia is one of countries which is in
highly risk state of Thalassemia. Based on Riskesdas in 2007, the prevalence of
Thalassemia in Indonesia was 0,1%. To be specific, in North Sumatera, the prevalence of
Thalassemia α was 3,35% and 4,07% for Thalassemia Beta. The research is a descriptive by
using case series design. The population of this research were 113 cases of Thalasemia data
which registered in RSUP H. Adam Malik Medan since 2011 until April 2014.
This research showed that highest proportion of Thalasemia’s patient
characteristics are male by group age ≤15 years old (47,8%), Javanese (46%),
elementary school undergraduated (63,7%), come from outside of Medan
(74,3%), pale as a major symptomp (88,5%), Thalasemia Beta (91,2%), heart
and liver complication (66,7%), average of long suffering 8 years, had blood
transfusion (74,3%), average of medication 3 days and medication without
hospitalized (87,6%). Appealed to the community who find these kind of
symptom such as pale face, bigger abdoment and genetically patented by
Thalasemia, please meet your kids to the doctor at nearby hospital as soon as
possible. Routine check up and having a general genetic premaried counseling
are suggested to ones who suffered Thalasemia.
Thalassemia is an inherited disease that is
derived from one of the parent or both to their
children since in the womb. If the couple are
carriers of thalassemia gene, then the chances for
they children will suffer from thalassemia by 25%,
thalassemia gene carriers 50% and normal 25%
Hemoglobin (Hb) is a substance in red
blood cells (erythrocytes), which serves to carry
oxygen from the lung to all body tissues and gives
the red color in erythrocytes. Under normal
circumstances, the main hemoglobin consists of
heme groups and has two alpha chains (α) and the
main chain of beta (β). Thalassemia occurs
because of abnormalities or changes in α or β
globin gene that regulates production of α or β
chains. Reduced or not formed at all of the globin
chains called Thalassemia. This resulted in the
production of hemoglobin disturbed and
shortened life of erythrocytes.Under normal
circumstances, the erythrocyte lifespan ranges
from 120 days
1. Thalassemia alpha (α)
Occurs if abnormalities α globin chain synthesis. Known to four (4) types of α-thalassemia
by many genes are disrupted:
 Deletion1 gene (silent carriers)
 Hemoglobin disorders is very minimal and does not give symptoms. This
situation can only be seen from the molecular laboratory examinations.
 Deletion2 genes (α-thalassemia trait)
In this disease find their symptoms of mild anemia or without anemia.
 Deletion 3 gene (HbH Disease)
 Could be detected after birth, accompanied by severe anemia and an enlarged
spleen
 Deletion 4 gene (hydrops fetalis)
 Usually the baby would die in utero or after birth because normal hemoglobin
levels may not be form
2. thalassemia beta (β)
Most often found in Indonesia based on the number of mutant
genes known thalassemia homozygotes when is a mutation in a second
gene β and thalassemia heterozygote when there is a mutation in one
gene β based on the clinical picture known three kinds of thalassemia β
namely thalassemia β major, thalassemia β minor and shape between
thalassemia major and minor, called thalassemia intermedia.
 β thalassemia major.
In the major β thalassemia mutations in both genes β patients
require regular blood transfusions, there is an enlargement of the spleen
are increasingly large and require removal of the spleen action called
splenectomy. Additionally patients experience a buildup of iron in the
body due to reduced transfusion and excessive iron absorption, so that
the necessary treatment expenses of iron from the body, called chelation
Β thalassemia minor
In beta thalassemia minor obtained a mutation in one of two
genes β, this disorder is also called β thalassemia trait. In this state
obtained hemoglobin level is normal or mild anemia and pasein not
show clinical symptoms. Patients with thalassemia intermedia showed
abnormalities between thalassemia major and minor. usually live a
normal life but in certain circumstances such as severe infections or
pregnancy require a blood transfusion action.
B thalassemia intermedia
lack of beta globin is more significant. bony deformities due to
bone marrow trying to make more blood cells to replace defective
ones causes late development, exercise intolerance, and high levels of
iron in blood due to reabsorption in the GI tract if unable to maintain
hemoglobin levels between 6 gm/dl – 7 gm/dl, transfusion or
splenectomy is recommended
 Thalassemia symptoms experienced by each person is different, depending on the severity and
type of thalassemia suffered. To work with normal hemoglobin protein requires two alpha and two
beta proteins. Abnormalities in alpha protein is called alpha thalassemia and beta thalassemia in
beta protein. If there are many mutations in the genetic material that makes hemoglobin, then it
will suffer severe thalassemia. For severe cases, blood transfusion will often be required. But if the
mutation occurs little or limited, then the symptoms can be milder.
Examples of symptoms of thalassemia :
• low weight • Yellow discoloration of
skin (jaundice)
• Fatigue
• Facial bone deformities
• Weakness • Abdominal swelling
• Dark urine
• Pale appearance • anemia experiencing
• Slow growth symptoms such as
shortness of breath
The signs and symptoms you experience depend on the
type and severity of thalassemia you have. Some babies
show signs and symptoms of thalassemia at birth, while
others may develop signs or symptoms during the first two
years of life. Some people who have only one affected
hemoglobin gene don't experience any thalassemia
symptoms.
 B Thalassemia Minor / carrier
Mild anemia is characterized by lethargy, lack of appetite, frequent infections.
This condition is often misinterpreted as anemia due to iron deficiency.
 B thalassemia Intermedia
Moderate anemia (hemoglobin 7-10 g / dl). Symptoms of bone deformities,
hepatomegaly and splenomegaly, ertropoesis extra medullary iron overload and picture
appear in adulthood.
 B thalassemia Major
Pallor (anemia) which can achieve Hb 4-6 g / dL, abdominal bloating, change in
shape of the face, where the distance between the eyes become distant, accompanied by
increased snub nose (Facies Cooley), jaundice (jaundice), skin sores (ulcers / ulcer ),
gallstones, lethargy, shortness of breath because the heart is working too hard will result
in heart failure and swelling of the lower limbs.
THE PREVENTION OF THALASSEMIA
 EDUCATION
intensive education directed toward the health personnel and to the population at
large is important to prevent Thalassemia
 CARRIER DETECTION
It is for prevents our children from thalassemia or for reduce thallassemias generation.
 GENETIC COUNSELING
A pediatrician trained in genetics is responsible for counseling the couples identified to be at
risk, The information provided is aimed at giving an informed basis on which to make a
decision about reproduction.
 PRENATAL DIAGNOSIS
Nowadays, thalassemias are detected directly by the analysis of amplified DNA from fetal
trophoblast or amniotic fluid cells. Fetal DNA is obtained transabdominally by chorionic villus
sampling.
1. Transfusion therapy
Patient who diagnosed thalasemia when their hb levels falls <7g/dl they
must doing regular monthly transfusion (interval 2-4 weeks). Before first transfusion,
patients typed for eh and ABO antigens at the same time cytomegalovirus status
should be obtained, and given vaccines hepatitis B before transfusion and vaccines
hepatitis A when the age appropriate. The risk greatly reduced since human find
vaccine for hepatitis. Once pretransfusion Hb level > 9 - 10 g/dl is achivies
2. Diet and activity
Drinking tea may help to reduce iron absorption through the intestinal tract. Vitamin
C may improve iron excretion in patiens receiving iron chelation, especially with
deferoxamine. Eat meat and vegetables can help to reduce the bad effect of
thalassemia
3. Splenectomy (reduce transfusion)
HATUR NUHUN XIE-XIE KAMSAHAMNIDA MATUR SUWUN
ARIGATO TERIMAKASIH

Blood Disease

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ENGLISH FOR SPECIFIC PURPOSES

 Pirdayasa Hikmah (2016-124)

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