Went through your reports attached in email. The preliminary reports are confirmatory of Thalassemia. Parents need to be screened for carrier status. Further studies like Gene sequencing and molecular analysis for cryptic mutations are needed for confirmation. Although temporary treatment modalities to relieve anemia and jaundice are available, the ideal treatment would be to plan for Bone marrow transplant. You child needs to be under the care of a Hematologist in a good center.
Patient replied :
Thanks for going through the reports. Could you please give me some more inputs from the reports which confirms the patient is suffering from Thalassemia. Also, how frequently the patient needs blood transfusion for temporary relief. The patient is my elder brother's only son and you can understand the grief in the family. Please let us know if anything else we need to know in order to pursue the case in the right direction. Thanks a lot for your time.
You may have to identify the specific mutation that caused the disease for which additional confirmatory investigations are needed. Your Doctor should be able to give them based on clinical examination findings and the need.
Blood transfusion can be planned based on symptom relief achieved. However it can only alleviate the symptom and not the cause. Specific cause directed therapy has to be initiated ASAP. You can check for support groups http://www.thalassemiaindia.org/.
Admin Message : Please note the consult reply is by Dr. Prasad Eswaran ( http://www.doctorspring.com/doctors/prasad-eswaran). Sorry about the technical error.