AN INHERITED DISORDER OF HAEMOGLOBIN PRODUCTION
Thalassaemia
An inherited blood disorder causing reduced haemoglobin production, leading to anaemia of varying severity. Severe forms need lifelong transfusions and iron chelation; mild forms may need only monitoring.
ABOUT THIS CONDITION
What is Thalassaemia
Thalassaemia is an inherited blood disorder in which the body produces reduced or abnormal amounts of haemoglobin, leading to anaemia. The condition is more common in people of Mediterranean, Middle Eastern, South Asian and Southeast Asian origin, and in India, it is particularly seen in certain communities. There are two main types — alpha thalassaemia and beta thalassaemia — and severity varies widely. Thalassaemia trait (minor) often causes no symptoms or only mild anaemia. Thalassaemia intermedia causes moderate anaemia and may need occasional transfusions. Thalassaemia major causes severe anaemia from infancy and requires lifelong regular blood transfusions, with associated iron overload requiring iron chelation therapy. Typical features include tiredness, pallor, jaundice, slow growth in children, bone changes, enlarged spleen and various organ complications related to anaemia and iron overload. Diagnosis is confirmed with blood tests including haemoglobin electrophoresis. Treatment ranges from monitoring in minor forms to transfusions, iron chelation and bone marrow transplantation in major forms. Dr. Patnam Pravallika Reddy provides initial evaluation and co-management with haematology at Lux Hospitals, Hyderabad.
SIGNS TO WATCH
Common Symptoms
Symptoms that need attention
WHY IT HAPPENS
Causes & Risk Factors
- Inherited gene mutations affecting haemoglobin production
- More common in Mediterranean, Middle Eastern, South Asian and Southeast Asian populations
- Both parents being carriers can lead to severe forms in children
- Carrier state (trait) is generally asymptomatic
- Identified through screening in many populations
- Genetic counselling important for families
- Different mutations cause alpha or beta thalassaemia of varying severity
CLINICAL DETAILS
KeyFacts
Complete blood count, blood film, haemoglobin electrophoresis and genetic testing where needed
Alpha thalassaemia · Beta thalassaemia · Trait, intermedia, major
Monitoring in minor forms; transfusions and iron chelation in major forms
Major complication of repeated transfusions, requiring iron chelation
Bone marrow transplantation can be curative in selected patients
Available at Lux Hospitals, Hyderabad — co-managed with haematology
HOW WE TREAT IT
Treatment Approach
Lifelong Care for Severe Forms with Iron Management
The most effective approach for thalassaemia major is regular blood transfusions to maintain adequate haemoglobin, combined with iron chelation therapy to prevent and treat iron overload, regular monitoring of organ function, and bone marrow transplantation evaluation in selected patients.
- 1
Consultation & Assessment
Dr. Pravallika reviews symptoms, family history and ethnicity, examines the patient and arranges blood tests including haemoglobin electrophoresis.
- 2
Treatment Planning
A personalised plan is created in coordination with haematology based on the type and severity of thalassaemia.
- 3
Medical Management
Regular transfusions and iron chelation therapy for severe forms, monitoring and supportive care for intermediate forms, and surveillance for minor forms.
- 4
Recovery & Follow-up
Long-term follow-up with haematology including monitoring of organ function, transfusion needs and complications.
AVAILABLE TREATMENTS
Treatment Options
Regular Blood Transfusions in Thalassaemia Major (Referral for haematology)
Regular blood transfusions, typically every 2 to 4 weeks, maintain haemoglobin levels in thalassaemia major and allow normal growth and activity.
Iron Chelation Therapy
Iron chelation therapy removes excess iron accumulated from repeated transfusions, preventing and treating iron overload that can damage the heart, liver and endocrine organs.
Folate Supplementation
Folate supplementation supports increased red blood cell production in patients with thalassaemia.
Bone Marrow Transplantation in Selected Patients (Referral for haematology / transplant evaluation)
Bone marrow or stem cell transplantation can be curative in carefully selected patients, particularly children with severe disease and a matched donor.
Genetic Counselling and Family Screening
Family screening and genetic counselling are essential for families with thalassaemia, particularly to inform future family planning.
COMMON QUESTIONS
Frequently Asked Questions
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