Conventional treatment (i.e.

, regular blood transfusion and ironchelation

therapy) has dramatically improved both the survival and
quality of life of patients with thalassemia, changing a previously fatal
disease with early death to a chronic, slowly progressive disease compatible
with prolonged survival. However, HSCT remains the only
curative treatment for patients with thalassemia. In patients with thalassemia,
the risk of dying from transplant-related complications is
primarily dependent on patient age, iron overload, and concomitant
hepatic viral infections. Adults, especially when affected by chronic
active hepatitis, have a poorer outcome than children. Among children,
3 classes of risk have been identified on the basis of 3 parameters,
namely regularity of previous iron chelation, liver enlargement, and
presence of portal fibrosis. In pediatric patients without liver disease
who have received regular iron chelation (class 1 patients), the probability
of survival with transfusion independence is >90%, whereas for
patients with low compliance with iron chelation and signs of severe
liver damage (class 3 patients), the probability of survival is 60% (Fig.
135-3). As in other nonmalignant disorders the most effective pharmacologic
combinations (such as that including cyclosporine and
methotrexate) should be employed to prevent GVHD. The outcome of
patients transplanted from an unrelated donor has been reported to be
similar to that of HLA-identical sibling recipients
Thalasemia mengacu pada sekelompok kelainan genetik produksi rantai globin di mana ada
ketidakseimbangan antara produksi rantai α-globin dan β-globin. Sindrom β-Thalassemia
dihasilkan dari penurunan rantai β-globin, yang menghasilkan rantai α-globin relatif berlebih.
β0-Thalassemia mengacu pada tidak adanya produksi β-globin.
Ketika pasien dengan homozigot gen β-thalassemia, mereka tidak dapat membuat rantai β
normal (HbA). β + -Thalassemia yang mutasi membuat jumlah β-globin normal menurun, tetapi
masih ada (HbA). Sindrom β0-Thalassemia lebih parah daripada sindrom β + -thalassemia, tetapi
ada variabilitas yang signifikan antara genotipe dan fenotipe.
β-Thalassaemia mayor mengacu pada pasien talasemia β berat yang memerlukan terapi transfusi
dini dan yang sering adalah homozigot mutasi β0. β-Thalasemia intermedia adalah diagnosis
klinis pasien dengan fenotipe klinis yang kurang berat yang biasanya tidak memerlukan terapi
transfusi di masa anak-anak.
Banyak dari pasien ini memiliki setidaknya 1 mutasi β + talasemia. Sindrom β-Thalassemia
biasanya membutuhkan sebuah mutasi β-thalassemia pada kedua gen β-globin. Carrier dengan
sebuah mutasi β-globin tunggal umumnya tidak bergejala, kecuali pada mikrositosis dan anemia
ringan. Pada α-thalassemia, adanya yang hilang atau pengurangan produksi α-globin. Individu
normal memiliki 4 gen α-globin.
Semakin banyak gen yang terkena, semakin parah penyakitnya. Suatu mutasi α0 menunjukkan
tidak ada rantai-α yang dihasilkan dari gen itu. Mutasi α + menghasilkan penurunan jumlah
rantai α-globin. Patologi utama pada sindrom talasemia berasal dari kuantitas globin yang
diproduksi, sedangkan patologi utama dalam penyakit sel sabit berhubungan dengan kualitas β-
globin yang dihasilkan.
 Pt. I: The field of pediatrics
 Pt. II: Growth, development, and behavior
 Pt. III: Behavioral and psychiatric disorders
 Pt. IV: Learning disorders
 Pt. V: Children with special needs
 Pt. VI: Nutrition
 Pt. VII: Fluid and electrolyte disorders
 Pt. VIII: Pediatric drug therapy
 Pt. IX: The acutely ill child
 Pt. X: Human genetics
 Pt. XI: Metabolic disorders
 Pt. XII: The fetus and the neonatal infant
 Pt. XIII: Adolescent medicine
 Pt. XIV: Immunology
 Pt. XV: Allergic disorders
 Pt. XVI: Rheumatic diseases of childhood
 Pt. XVII: Infectious diseases
 V. 2
 Pt. XVIII: The digestive system
 Pt. XIX: Respiratory system
 Pt. XX: The cardiovascular system
 Pt. XXI: Diseases of the blood
 Pt. XXII: Cancer and benign tumors
 Pt. XXIIII: Nephrology
 Pt. XXIV: Urologic disorders in infants and children
 Pt. XXV: Gynecologic problems of childhood
 Pt. XXVI: The endocrine system
 Pt. XXVII: The nervous system
 Pt. XXVIII: Neuromuscular disorders
 Pt. XXIX: Disorders of the eye
 Pt. XXX: The ear
 Pt. XXXI: The skin
 Pt. XXXII: Bone and joint disorders
 Pt. XXXIII: Rehabilitation medicine
 Pt. XXXIV: Environmental health hazards
 Pt. XXXV: Laboratory medicine.