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File: Ch 087 Thalassemia
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 ...

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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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...Indian academy of pediatrics iap standard treatment guidelines thalassemia lead author ajith kumar vt co authors amita mahajan joy bhaduri under the auspices action plan remesh r president upendra kinjawadekar piyush gupta elect vineet saxena hsg committee chairperson coordinator national coordinators ss kamath vinod h ratageri member secretaries krishna mohan vishnu pt members santanu deb surender singh bisht prashant kariya narmada ashok pawan kalyan is an autosomal recessive disease it two main types i e alpha and beta mutation in hba genes four hbb gene one from such each parent severity signs involved synthesis symptoms directly proportional to number globin mutated with has no or children will have mild but a carrier can condition also called tion pass on minor people duc moderate severe this o trait major these tr babies are usually healthy at birth develop n within first years life three some manifest milder form intermedia result stillbirth death shortly after lifelong transfu...

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