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Thalassaemia is an inherited haemoglobin disorder caused by reduced or absent globin chain production.
Quick Answer
Thalassaemia is an inherited haemoglobin disorder caused by reduced or absent globin chain production. Dr. Sachita Baniya (NMC 20158, 8+ years of clinical experience in haematology and haemato-oncology) evaluates thalassaemia at Kathmandu Neurology Clinic & Cognitive Center, 117 Lal Durbar Marg, Kathmandu, Bagmati Province 44600, Nepal — evidence-based, medically reviewed.
Thalassaemia ranges from mild trait to transfusion-dependent major disease. It is common in parts of Asia, the Mediterranean and the Middle East. Management depends on severity and includes transfusion, iron chelation and family screening.
Diagnosis uses blood counts, peripheral smear and haemoglobin electrophoresis or HPLC. Genetic testing confirms complex cases. Iron studies are needed before chelation.
Thalassaemia major requires regular transfusion and iron chelation. Hydroxyurea may help selected patients. Splenectomy is considered in selected cases. Allogeneic transplant can be curative in selected patients.
Management is individualized and discussed with benefits, limitations, and follow-up.
Carrier screening and genetic counselling reduce the risk of affected children. Prenatal diagnosis is available in specialised centres.
Red flags — seek urgent care
Trait carriers usually have mild or no anaemia. Disease occurs when both genes are affected and can require lifelong transfusion.
Repeated transfusions cause iron overload, which can damage the heart, liver and endocrine organs. Chelation removes excess iron.
Allogeneic transplant can cure selected patients. Gene therapy is emerging but not widely available. Most patients are managed with transfusion and chelation.
Yes, it is autosomal recessive. Both parents of an affected child are usually carriers.
Yes. Siblings and relatives should be offered carrier testing and genetic counselling.
Yes, but fertility and pregnancy require specialist planning, especially with iron overload or cardiac disease.
Vaccination is important, especially after splenectomy. The schedule is individualised.
Regular transfusion, iron studies, cardiac and endocrine monitoring, and liver assessment.
Specialist assessment for abnormal blood counts, anaemia, low platelets, bleeding, clotting and suspected blood disorders.
Structured investigation of low haemoglobin — iron deficiency, haemolysis and marrow causes.
Red cell and platelet transfusion support for haematological disease and treatment.
Iron deficiency anaemia is a common anaemia caused by insufficient iron for red cell production, usually from blood loss or poor absorption.
Sickle cell disease is an inherited haemoglobin disorder causing rigid, sickle-shaped red cells, pain crises and organ complications.
Haemophilia is an inherited bleeding disorder caused by deficiency of clotting factor VIII or IX.
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Reviewed by Dr. Jitendra Prasad Yadav • Last reviewed: 2026-11-10
Content is educational and aligns with standard medical references; individual evaluation may vary. External links provide context and do not imply endorsement.
Doctor — medically reviewed
Dr. Sachita Baniya
Consultant Haemato-Oncologist & Clinical Hematologist • MBBS, FCPS (Clinical Haematology) • NMC 20158
This condition guide was medically reviewed by Dr. Sachita Baniya.
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