Thalasemia

Anemia Thalasemia merupakan penyakit

hemolitik atau kurangnya kadar hemoglobin Thalassemia merupakan salah satu
yang disebabkan oleh defisiensi penyakit genetik terbanyak di dunia
pembentukan rantai globin Alpha atau Betha yang ditandai dengan tidak
yang menyusun hemoglobin. Berdasarkan terbentuk atau berkurangnya salah
satu rantai globin baik itu -α
defisiensi pembentukan rantai globin
ataupun -β yang merupakan
tersebut maka Thalasemia dibedakan
komponen penyusun utama
menjadi Thalasemia Alpha dan Thalasemia
molekul hemoglobin normal.
Betha.
Suryanti E, Wiharto, Wahyudin K N “Identifikasi Anemia Thalasemia Betha Mayor
Berdasarkan Morfologi Sel Darah Merah ” Scientific Journal of Informatics Vol. 2, No. 1, Mei
2015
Wahidayat P A, Grenita. “Mengenal
Thalasemia”. Artikel Ilmiah IDAI. 2016
 Epidemiologi

– Thalassemia’ are widespread throughout the Mediterranean region, Africa, the

Middle East, the Indian subcontinent and South-East Asia. As of 2013 thalassemia
occurs in about 208 million people with 4.7 million having severe disease. It resulted
in 25,000 deaths in 2013 down from 36,000 deaths in 1990. Males and females have
similar rates of disease

Sharma, Dharmesh & Arya, Anita & Kishore, Poornima & Woike, Poonam & Bindal, Jyoti. (2017). OVERVIEW ON
THALASSEMIAS: A REVIEW ARTICLE. Medico Research Chronicles. 4. 325-337.
Epidemiologi Thalasemia
Patofisiologi

Pedoman Nasional Pelayanan Kedokteran Tata Laksana Thalasemia. Keputusan Menteri Kesehatan Republik Indonesia.
Diunduh dari: https://www.persi.or.id/images/regulasi/kepmenkes/kmk12018.pdf
 Klasifikasi Thalasemia

α-thalassemia:
– Klasifikasi thalesimia
– Silent carrier α-thalassemia: Diagnosis ini tidak bisa dikonfirmasi berdasarkan
hasil elektroforesis
– Α-Thalassemia trait: ditandai dengan anemia ringan dan indeks RBC yang rendah
– Hb H disease: Mewakili α-thalassemia intermedia, dengan anemia ringan hingga
sedang berat, splenomegaly, ikterus, and abnormal RBC indices
– Α-Thalassemia major: Tampak pada bentuk homozigot α-thalassemia yang berat

https://emedicine.medscape.com/article/958850-overview
– Some of the more common forms of β-thalassemia are as follows:
– Silent carrier β-thalassemia: Biasanya asimptomatis, kecuali pada indikasi RBC rendah
– Β-Thalassemia trait: Pasien memiliki anemia ringan, indikasi RBC abnormal dan abnormal Hb
elektroforesis
– Thalassemia intermedia: Pasien memiliki anemia dengan tingkat keparahan yang sedang
– Β-thalassemia associated with β-chain structural variants: Kondisi paling signifikan dari grup
sindrom thalassemia adalah thalassemia Hb E/β
– Thalassemia major (Cooley anemia): Kondisi ini ditandai dengan anemia yang bergantung pada
transfusi darah, splenomegaly yang massif, deformitas tulang, retardasi pertumbuhan, dan wajah
yang aneh pada individu yang tidak ditangani, 80% meninggal dalam 5 tahun pertama kehidupan
akibat komplikasi dari anemia
Diagnosis
 Anamnesis
– Pucat kronik; usia awitan terjadinya pucat perlu ditanyakan. Pada thalassemia β/HbE
usia awitan pucat umumnya didapatkan pada usia yang lebih tua.
– Riwayat transfusi berulang; anemia pada thalassemia mayor memerlukan transfusi
berkala.
– Riwayat keluarga dengan thalassemia dan transfusi berulang.
– Perut buncit; perut tampak buncit karena adanya hepatosplenomegali.
– Etnis dan suku tertentu; angka kejadian thalassemia lebih tinggi pada ras
Mediterania, Timur Tengah, India, dan Asia Tenggara. Thalassemia paling banyak di
Indonesia ditemukan di Palembang 9%, Jawa 6-8%, dan Makasar 8%.
– Riwayat tumbuh kembang dan pubertas terlambat.
Pedoman Nasional Pelayanan Kedokteran Tata Laksana Thalasemia. Keputusan Menteri
Kesehatan Republik Indonesia. Diunduh dari:
https://www.persi.or.id/images/regulasi/kepmenkes/kmk12018.pdf
 Pemeriksaan Fisik

Beberapa karakteristik yang dapat ditemukan dari pemeriksaan fisis pada anak dengan
thalassemia yang bergantung transfusi adalah pucat, sklera ikterik, facies Cooley (dahi
menonjol, mata menyipit, jarak kedua mata melebar, maksila hipertrofi, maloklusi gigi),
hepatosplenomegali, gagal tumbuh, gizi kurang, perawakan pendek, pubertas terlambat,
dan hiperpigmentasi kulit.
 Laboratorium

Darah Perifer Lengkap:

– Kadar Hemoglobin mencapai <7 g/dL
– Indeks eritrosit merupakan langkah pertama yang penting untuk skrining pembawa sifat
thalassemia (trait), thalassemia δβ, dan high Persisten fetal hemoglobine (HPFH)13
– Mean corpuscular volume (MCV) < 80 fL (mikrositik) dan mean corpuscular haemoglobin (MCH) <
27 pg (hipokromik). Thalassemia mayor biasanya memiliki MCV 50 – 60 fL dan MCH 12 – 18 pg.
– Nilai MCV dan MCH yang rendah ditemukan pada thalassemia, dan juga pada anemia defisiensi
besi. MCH lebih dipercaya karena lebih sedikit dipengaruhi oleh perubahan cadangan besi
 Gambaran Darah Tepi

– Anisositosis dan poikilositosis yang nyata (termasuk fragmentosit dan tear-drop),

mikrositik hipokrom, basophilic stippling, badan Pappenheimer, sel target, dan eritrosit
berinti (menunjukan defek hemoglobinisasi dan diseritropoiesis)
– Total hitung dan neutrofil meningkat
– Bila telah terjadi hipersplenisme dapat ditemukan leukopenia, neutropenia, dan
trombositopenia.
 ELEKTROFORESIS HEMOGLOBIN

– Beberapa cara pemeriksaan elektroforesis hemoglobin yang dapat dilakukan

adalah pemeriksaan Hb varians kuantitatif (electrophoresis cellose acetat
membrane), HbA2 kuantitatif (metode mikrokolom), HbF (alkali denaturasi
modifikasi Betke 2 menit), atau pemeriksaan elektroforesis menggunakan capillary
hemoglobin electrophoresis.

Pedoman Nasional Pelayanan Kedokteran Tata Laksana Thalasemia. Keputusan Menteri Kesehatan Republik Indonesia.
Diunduh dari: https://www.persi.or.id/images/regulasi/kepmenkes/kmk12018.pdf
 Differential Diagnoses

– Acute Anemia
– Chronic Anemia
– Hydrops Fetalis Imaging
– Pyruvate Kinase Deficiency
– Thalassemia Intermedia

https://emedicine.medscape.com/article/958850-overview
 Tatalaksana

Pedoman Nasional Pelayanan Kedokteran Tata Laksana Thalasemia. Keputusan Menteri Kesehatan Republik Indonesia. Diunduh
dari: https://www.persi.or.id/images/regulasi/kepmenkes/kmk12018.pdf
– Orang dengan penyakit hemoglobin H atau thalassemia beta
intermedia akan mengalami anemia dengan jumlah yang
bervariasi sepanjang hidup mereka. Mereka dapat hidup relatif
normal tetapi akan membutuhkan pemantauan rutin dan kadang-
kadang membutuhkan transfusi darah. Suplemen asam folat sering
diberikan, tetapi suplementasi zat besi tidak dianjurkan
– Hb Bart hydrops Sindrom fetalis atau alpha thalassemia mayor saat ini tidak
memiliki pengobatan yang efektif dan bayi biasanya keguguran, lahir mati, atau
mati segera setelah lahir. Upaya transfusi intrauterin, setelah deteksi prenatal
dini dengan ultra-sonografi Doppler dari kondisi ini, telah dilakukan, tetapi
sebagian besar yang selamat mengalami prevalensi malformasi kongenital yang
tinggi [53, 54] dan upaya harus dihentikan sampai terapi yang lebih efektif
(misalnya, somatik terapi gen) tersedia [51].
 Leukimia

– Leukemia is a type of blood cancer that begins in the bone marrow. Bone marrow
is the soft tissue in the center of the bones, where blood cells are produced.
– The term leukemia means white blood. White blood cells (leukocytes) are used by
the body to fight infections and other foreign substances. Leukocytes are made in
the bone marrow.
– an acute or chronic disease in humans and other warm-blooded animals
characterized by an abnormal increase in the number of white blood cells in the
tissues and often in the blood
 How does leukemia form?

– Some scientists believe that leukemia results from an as-of-yet undetermined combination
of genetic and environmental factors that can lead to mutations in the cells that make up
the bone marrow. These mutations, known as leukemic changes, cause the cells to grow
and divide very rapidly. The resulting unhealthy cells can outnumber the healthy white
blood cells, red blood cells and platelets within the body, rendering the blood less effective
at doing its job. Because of this, a leukemia patient might bleed, bruise or become fatigued
very easily, and also might be highly susceptible to infection.
 Risk factors

– Some factors increase the risk of developing leukemia.

– The following are either known or suspected factors:
– artificial ionizing radiation
– viruses, such as the human T-lymphotropic virus (HTLV-1) and HIV
– benzene and some petrochemicals
– alkylating chemotherapy agents used in previous cancers
– hair dyes
– smoking
– Genetic predisposition: Some people appear to have a higher risk of developing
leukemia because of a fault in one or several genes.
– Down syndrome: People with Down syndrome appear to have a higher risk,
possibly due to certain chromosomal changes.
– It has been suggested that exposure to electromagnetic energy might be linked
to leukemia, but there is not enough evidence to confirm this.
 Types of leukemia

– Leukemia is broadly categorized as acute or chronic. Acute leukemias are more

aggressive and involve immature blood cells, whereas chronic leukemias tend to
develop more slowly and involve mature blood cells. Leukemia is further classified by
the type of cells that are affected, with the four main types being:
– Acute lymphocytic leukemia (ALL)
– Acute myelogenous leukemia (AML)
– Chronic lymphocytic leukemia (CLL)
– Chronic myelogenous leukemia (CML)
 Symptoms

– Poor blood clotting: Immature white blood cells crowd out platelets, which are crucial for blood
clotting. This can cause a person to bruise or bleed easily and heal slowly. They may also develop
petechiae, small red to purple spots on the body, indicating a minor hemorrhage.
– Frequent infections: The white blood cells are crucial for fighting off infection. If these are suppressed
or not working properly, frequent infections can result. The immune system may attack other good
body cells.
– Anemia: As the shortage of good red blood cells grows, anemia can result. This can involve difficult or
labored breathing and pale skin.
– Other symptoms: There may be nausea, fever, chills, night sweats, flu-like symptoms, weight loss,
bone pain, and tiredness. If the liver or spleen becomes enlarged the person may feel full and will eat
less, resulting in weight loss.
– Weight loss can also occur even without an enlarged liver or spleen. Headache may indicate that the
cancerous cells have invaded the central nervous system (CNS).
– These can all be symptoms of other illnesses. Tests are needed to confirm a diagnosis of leukemia.
 Treatment

– For acute leukemia, the immediate goal of treatment is remission. The patient
undergoes chemotherapy in a hospital and stays in a private room to reduce the
chance of infection. Since acute leukemia patients have extremely low counts of
healthy blood cells, they are given blood and platelet transfusions to help
prevent or stop bleeding. They receive antibiotics to prevent or treat infection.
– To keep the disease under control, they will then receive consolidation
chemotherapy for 1-4 months to get rid of any remaining malignant cells.
– After obtaining a complete remission, some patients with acute myeloid
leukemia (AML) may require an allogeneic stem cell transplant. This requires a willing
donor with compatible tissue type and genetic characteristics -- preferably a family
member. Other donor sources could include a matched unrelated donor or umbilical
blood
– Chronic lymphocytic leukemia (CLL), a form of leukemia that
usually affects older persons, typically progresses slowly. 
– Oral chemotherapy can effectively control symptoms of CML for
several years. In the past, most cases of CML eventually advanced
to an acute phase despite treatment, so doctors advised bone
marrow transplantation during the chronic phase.
– https://medlineplus.gov/ency/article/001299.htm
– https://www.medicalnewstoday.com/articles/142595.php
– https://www.cancer.ca/en/cancer-information/cancer-type/leukemia-chronic-ly
mphocytic-cll/diagnosis/?region=on