Thalassemia
Thalassemia is an inherited blood disorder in which the body produces less haemoglobin than normal, or an abnormal form of it, reducing oxygen-carrying capacity and shortening red blood cell survival. It ranges from a symptom-free carrier state, known as thalassemia trait or minor, to a severe, transfusion-dependent form called thalassemia major, depending on how many globin genes are affected. It is diagnosed through blood counts, haemoglobin electrophoresis, and, where relevant, genetic testing.
Understanding Thalassemia
Haemoglobin, the oxygen-carrying protein inside red blood cells, is built from protein chains called alpha and beta globin. Thalassemia results from inherited mutations that reduce or stop production of one of these chains, leading to red blood cells that are smaller, more fragile, and broken down faster than normal. This combination of reduced production and increased destruction results in chronic anemia, the hallmark of the condition.
Thalassemia is classified by which globin chain is affected (alpha or beta) and by severity. Thalassemia trait, or minor, means a person carries one affected gene and is usually symptom-free, sometimes discovered only through a routine blood test. Thalassemia intermedia causes moderate anemia with variable transfusion needs, while thalassemia major, caused by mutations in both copies of the relevant gene, causes severe anemia from infancy and requires regular blood transfusions. Because carrier rates are relatively high in parts of India, carrier screening before marriage or early in pregnancy is recommended when there is a family history or regional prevalence.
For thalassemia major, lifelong coordinated care is required: regular transfusions to maintain haemoglobin levels, iron chelation therapy to manage the iron overload that transfusions cause over time, and growth and organ monitoring. In eligible children with a matched donor, bone marrow transplant is considered as it can offer a potentially curative option, and is generally most effective when performed early, before iron overload and organ damage accumulate.
Signs of Thalassemia to watch for
When to see a haematologist
Infants or young children with persistent pallor, poor feeding, or failure to grow as expected should be evaluated for thalassemia.
Couples with a known family history of thalassemia, or from a background with higher carrier prevalence, should consider carrier screening before or early in pregnancy.
A known thalassemia trait carrier planning a family should seek genetic counselling together with their partner to understand the chances of having an affected child.
Tests offered at the centre
Complete Blood Count with Red Cell Indices
Identifies characteristic changes in red cell size and haemoglobin content that raise suspicion for thalassemia and distinguish it from iron deficiency anemia.
Haemoglobin Electrophoresis / HPLC
Separates and measures different types of haemoglobin in the blood, confirming the type and severity of thalassemia.
Genetic (Molecular) Testing
Identifies the specific globin gene mutations involved, useful for confirming diagnosis, carrier screening, and family and prenatal counselling.
Serum Ferritin and Iron Studies
Used in transfusion-dependent patients to monitor iron overload from repeated transfusions and guide iron chelation therapy.
Treatment options
Your treatment plan is personalized to your diagnosis, subtype and overall health.
Regular Blood Transfusion Program
Scheduled transfusions maintain haemoglobin at a level that supports normal growth and activity in transfusion-dependent thalassemia.
Iron Chelation Therapy
Medication that helps remove excess iron accumulated from repeated transfusions, reducing the risk of iron-related organ damage over time.
Folic Acid Supplementation
Supports ongoing red blood cell production, which is increased in thalassemia due to more rapid cell turnover.
Bone Marrow / Stem Cell Transplant
A potentially curative option for eligible patients, particularly children, who have a matched donor; timing and eligibility are assessed individually.
Genetic Counselling
Helps carriers and families understand inheritance risk and options for family planning and prenatal testing.
Why choose AP Blood & Blood Cancer Centre
Thalassemia management involves more than transfusions; it requires ongoing monitoring of iron levels, growth, and organ function, and, for some families, guidance on genetic risk. As a single-specialty haematology centre, this ongoing care is coordinated in one place rather than fragmented across departments.
Dr. Amarnadh Polisetty, MBBS, MD (General Medicine), DNB (Clinical Haematology), brings over 7 years of clinical haematology experience and has been part of specialist transplant teams managing more than 500 bone marrow transplant patients, relevant experience for families considering transplant evaluation for thalassemia major. Care plans are personalized to disease severity, with transfusion and chelation protocols and genetic counselling built into ongoing follow-up.
Common questions about Thalassemia
Medically reviewed by Dr. Amarnadh Polisetty, MD, DNB (Clinical Haematology)
Last reviewed on 1 July 2026
Planning a family or noticing anemia symptoms?
Whether you need carrier screening, a diagnosis, or ongoing transfusion care, consult a clinical haematologist for personalized guidance.