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THALASSEMIA IN

CHILDREN
Written by:
Abiyya Farah Putri 1102013003
Advisor:
dr. Pulung M. Silalahi, Sp.A

KEPANITERAAN KLINIK ILMU KESEHATAN ANAK


RUMAH SAKIT BHAYANGKARA TK. I R. SAID SUKANTO
FAKULTAS KEDOKTERAN UNIVERSITAS YARSI
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PERIODE 19 NOVEMBER 2018 – 26 JANUARI 2019
HAEMOGLOBIN

The synthesis of the α chain is encoded by the α1 gene and the α2


gene on chromosome 16
Synthesis of the β chain, chain γ and chain δ are located on
2
chromosome 11.
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THALASSEMIA

a group of inherited autosomal


recessive hematologic disorders,
that cause hemolytic anemia
because of the decreased or
absent synthesis of a globin
chain.

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EPIDEMIOLOGY
PERSON
• 39,38% berusia 0-5 tahun,
• 31,10 % berusia 6-10 tahun,
• 17,68% berusia 11-15 tahun,
GENETIC • 8,04 % berusia 16-20 tahun,
• 3,63 % berusia > 20 tahun.

AGE

PLACE

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SOURCE : Data Unit Kerja Koordinasi Hematologi Onkologi Anak Indonesia 2014)
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INHERITED AUTOSOMAL RECESSIVE HEMATOLOGIC DISORDERS 8
CLASSIFICATION
Berdasarkan gangguan pada rantai globin yang terbentuk:

Thalassemia-α Thalassemia-β

Silent Carrier β Thalassemia


Trait
α Thalassemia
Trait Thalassemia
Intermedia
Hb H Disease
Thalassemia
Major
α Thalassemia
Major
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PATHOPHYSIOLOGY OF BETA THALASSEMIA

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CLINICAL SYMPTOMS
Pale and lethargic appearance

Decreased Appetite

Failure to Thrive

Enlargement of the spleen and liver

Urine will become more concentrated

Yellowish skin

Bone problems (especially bones in the


face) 11
CLINICAL SYMPTOMS
Clinical presentation of β-thalassaemia major
usually occurs between 6 and 24 months with
severe microcytic anaemia, mild jaundice, and
hepatosplenomegaly. Affected infants fail to
thrive and become progressively pale.

FACIES COOLEY
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DIAGNOSIS

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LABORATORY FINDINGS

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• Most persons with thalassemia trait, their complete blood
count shows a mild microcytic anemia.

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Hair on end Coarsed Trabeculae

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TREATMENT

Blood
Iron Chelation
Transfusion

Vitamin C,
Bone Marrow
Vitamin E & Folic
Acid Supplement
Transplant

Cord Blood
Splenectomy
Donors

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BLOOD TRANSFUSION
Confirmed diagnosis of thalassaemia
For deciding
whom to •Laboratory criteria:
transfuse, the
following should • Haemoglobin level (Hb <7 g/dl on 2 occasions,
be included in the 2 weeks apart (excluding all other contributory
investigations: causes such as infections)

•Clinical criteria irrespective of haemoglobin level:


• Haemoglobin > 7 g/dl with any of the
following:
• Facial changes
• Poor growth
• Fractures
• Clinically significant extramedullary
haematopoiesis
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BLOOD TRANSFUSION
Persons with beta thalassemia major require
periodic blood transfusions to maintain a
hemoglobin level higher than 9.5 g/dl and
sustain normal growth. The need for blood
transfusions may begin as early as six months of
age.

Beta thalassemia intermedia.


Transfusion requirements are episodic

Alpha thalassemia intermedia, or HbH disease,


Transfusions will occasionally be necessary
depending upon the severity of the clinical
condition.
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IRON CHELATION

• A chelating agent is a substance whose molecules can form


several bonds to a single metal ion.
• Treatment with an iron chelator starting between five and eight
years of age. Deferoxamine (Desferal), subcutaneously or
intravenously, has been the treatment of choice.

DESFERRIOXAMINE DEFERASIROX DEFERIPRONE

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SPLENECTOMY

• Spenomegaly is caused by an increased destruction of red


blood cells by reticuloendothelial system, in particular by the
spleen.
• The main therapeutic rationale for splenectomy in
transfusion-dependent patients with β-thalassaemia major
(TM) is to decrease blood consumption and transfusion
requirement with the ultimate goal of reducing iron overload

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BONE MARROW TRANSPLANT

• Bone marrow transplantation in childhood is the only


curative therapy for beta thalassemia major.

• Hematopoietic stem cell transplantation generally results in


an excellent outcome in low-risk persons, defined as those
with no hepatomegaly, no portal fibrosis on liver biopsy, and
regular chelation therapy, or at most, two of these
abnormalities

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DIFFERENTIAL DIAGNOSIS
RDW Serum Iron TIBC Serum FEP
Ferritin
Iron Deficiency Inc Dec Inc Dec Inc

Alpha Thal Norm Norm Norm Norm Norm

Beta Thal Norm Norm Norm Norm Norm

Anemia of Norm Dec Dec Inc Inc


Chronic Disease

Sideroblastic Inc Inc Norm Inc Dec


Anemia

Lead Poisoning Norm Norm Norm Norm Inc

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PREVENTION

• Early detections
• If you have thalassemia, or if you carry a
thalassemia gene, consider talking with a
genetic counsellor for guidance before
you get marriage
• Your children maybe prevented from
thalassemia by choosing a thalassemia
free partner

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PROGNOSIS

• Persons with thalassemia trait have a


normal life expectancy.
• Persons with beta thalassemia major live
an average of 17 years and usually die by
30 years of age.
• Most deaths are caused by the cardiac
complications of iron overload.

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