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Indian Academy of Pediatrics (IAP) STANDARD TREATMENT GUIDELINES 2022 Thalassemia Lead Author Ajith Kumar VT Co-Authors Amita Mahajan, Joy Bhaduri Under the Auspices of the IAP Action Plan 2022 Remesh Kumar R IAP President 2022 Upendra Kinjawadekar Piyush Gupta IAP President-Elect 2022 IAP President 2021 Vineet Saxena IAP HSG 2022–2023 © Indian Academy of Pediatrics IAP Standard Treatment Guidelines Committee Chairperson Remesh Kumar R IAP Coordinator Vineet Saxena National Coordinators SS Kamath, Vinod H Ratageri Member Secretaries Krishna Mohan R, Vishnu Mohan PT Members Santanu Deb, Surender Singh Bisht, Prashant Kariya, Narmada Ashok, Pawan Kalyan Thalassemia 87 Thalassemia is an autosomal recessive disease. It is of two main types, i.e., alpha and beta. Alpha-thalassemia Beta-thalassemia Mutation in the HBA1 and HBA2 genes, four Mutation in the HBB gene, two genes, one from such, two from each parent, severity of signs and each parent, involved in the synthesis of beta- symptoms directly proportional to the number globin. of genes mutated. With one mutated gene, one has no signs or Children with one mutated gene will have mild symptoms but is a carrier of the disease and can signs and symptoms. Condition also called tion pass it on to the children. thalassemia minor or beta-thalassemia. People with two mutated genes will have Children with two mutated genes will have duc mild signs and symptoms, also called alpha- moderate-to-severe signs and symptoms. This o thalassemia trait. condition is called thalassemia major. These tr babies are usually healthy at birth and develop n signs and symptoms within the first 2 years of I life. People with three mutated genes have Some children with two mutated genes will moderate-to-severe signs and symptoms from manifest a milder form, called thalassemia birth. intermedia. Four mutated genes usually result in stillbirth or death shortly after birth or lifelong transfusion therapy. Thalassemia ; Fatigue/weakness/shortness of breath ; Pale or yellowish skin/anemia ; Facial bone deformity ; Slow growth/failure to thrive oms and Signs; Abdominal swelling ; Hepatosplenomegaly. ympt S ; Jaundice and pigment gallstones ; Hypersplenism C ; Complications of extramedullary hematopoiesis omplic ; Skeletal changes ; Iron overload ; Growth impairment a ; Complications of iron overload tions ; Endocrine and metabolic abnormalities ; Heart failure and arrhythmias ; Pulmonary abnormalities and PH. 4
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