Beta thalassaemia

Red Flags

Heart failure with iron overload (cardiac T2* <10 ms or LVEF <50%) — emergency cardiology + intensive chelation (combined deferiprone + deferoxamine)^[1]
Severe transfusion reaction (haemolytic, anaphylactic, TRALI, TACO) — stop transfusion, supportive care, reporting; investigate alloimmunisation^[1]
Pregnancy with thalassaemia — multidisciplinary preconception (cardiac and endocrine optimisation, switch deferoxamine, fetal medicine)^[1]
New endocrine deficit (hypothyroidism, diabetes, adrenal, gonadal) on chelation regimen — replacement therapy and chelation review^[1]

First-line treatment

Interventions

Regular transfusion programme (transfusion-dependent disease)^[1]
Pre-transfusion Hb target 9–10.5 g/dL (Hb 12 g/dL post-transfusion); leukoreduced, extended-antigen matched red cells; usual interval 2–4 weeks; phenotype matching from start to reduce alloimmunisation
Iron chelation when ferritin >1000 ng/mL or post-20 transfusions^[1]
Oral deferasirox first-line in most patients; subcutaneous deferoxamine for severe iron overload or pregnancy; combined deferasirox + deferiprone or deferoxamine + deferiprone for severe cardiac iron
Disease-modifying therapy^[1]
Hydroxyurea in selected non-transfusion-dependent thalassaemia raises HbF; luspatercept reduces transfusion need in adults with regular transfusion requirement
Curative — haematopoietic stem cell transplant or gene therapy^[1]
Matched sibling donor HSCT — best outcomes when transplanted before significant organ damage; matched unrelated/haploidentical donors with conditioning; gene therapy (betibeglogene autotemcel, exagamglogene autotemcel) for selected severe disease where access permits
Carrier screening and genetic counselling^[1]
All adults of reproductive age in high-prevalence regions; antenatal couple screening; prenatal diagnosis (chorionic villus sampling, amniocentesis) for at-risk couples; selective termination per local framework

First-line drug therapy

Drug	Class	Adult	Paediatric	Notes
Deferasirox^[1]	Oral iron chelator	20–40 mg/kg PO daily film-coated tablet; 14–28 mg/kg/day oral granules	Children ≥2 years 20–30 mg/kg/day	First-line in transfusion-dependent disease; monthly creatinine, LFT, urinalysis; rare hepatic, renal, gastrointestinal, ophthalmic, auditory adverse events
Deferoxamine (subcutaneous)^[1]	Parenteral iron chelator	30–50 mg/kg SC infusion over 8–12 h, 5–7 nights/week	20–40 mg/kg/day in children	Used in severe iron overload, pregnancy, deferasirox intolerance; growth delay in children; ophthalmic and auditory monitoring; injection-site reactions reduce adherence
Deferiprone^[1]	Oral iron chelator	75–100 mg/kg/day PO in 3 divided doses	Children ≥6 years per local label	Cardiac iron preferred (penetrates myocardium); weekly FBC for agranulocytosis; combined with deferasirox or deferoxamine for cardiac iron overload
Luspatercept^[1]	Erythroid maturation agent	1 mg/kg SC every 3 weeks; titrate to 1.25 mg/kg	—	Adults with transfusion-dependent thalassaemia requiring regular transfusion; reduces transfusion frequency; thrombosis risk; access varies
Hydroxyurea (selected non-transfusion-dependent)^[1]	Ribonucleotide reductase inhibitor / fetal Hb inducer	10–20 mg/kg/day PO; titrate by FBC	Same weight-based dosing	Selected non-transfusion-dependent thalassaemia and intermedia; raises HbF; teratogenicity; reversible cytopenia

Deferasirox^[1]

Oral iron chelator

Adult: 20–40 mg/kg PO daily film-coated tablet; 14–28 mg/kg/day oral granules
Paediatric: Children ≥2 years 20–30 mg/kg/day

First-line in transfusion-dependent disease; monthly creatinine, LFT, urinalysis; rare hepatic, renal, gastrointestinal, ophthalmic, auditory adverse events

Deferoxamine (subcutaneous)^[1]

Parenteral iron chelator

Adult: 30–50 mg/kg SC infusion over 8–12 h, 5–7 nights/week
Paediatric: 20–40 mg/kg/day in children

Used in severe iron overload, pregnancy, deferasirox intolerance; growth delay in children; ophthalmic and auditory monitoring; injection-site reactions reduce adherence

Deferiprone^[1]

Oral iron chelator

Adult: 75–100 mg/kg/day PO in 3 divided doses
Paediatric: Children ≥6 years per local label

Cardiac iron preferred (penetrates myocardium); weekly FBC for agranulocytosis; combined with deferasirox or deferoxamine for cardiac iron overload

Luspatercept^[1]

Erythroid maturation agent

Adult: 1 mg/kg SC every 3 weeks; titrate to 1.25 mg/kg
Paediatric: —

Adults with transfusion-dependent thalassaemia requiring regular transfusion; reduces transfusion frequency; thrombosis risk; access varies

Hydroxyurea (selected non-transfusion-dependent)^[1]

Ribonucleotide reductase inhibitor / fetal Hb inducer

Adult: 10–20 mg/kg/day PO; titrate by FBC
Paediatric: Same weight-based dosing

Selected non-transfusion-dependent thalassaemia and intermedia; raises HbF; teratogenicity; reversible cytopenia

Safety-net

Take iron chelator every day as prescribed and attend monitoring — undetected iron overload causes silent cardiac, hepatic, and endocrine damage^[1]
Plan pregnancy with your haematologist — switch deferasirox/deferiprone to deferoxamine ≥3 months pre-conception; cardiac and endocrine optimisation^[1]
Report new chest discomfort, breathlessness, palpitations, or weight gain — could signal cardiac iron overload requiring urgent intensification of chelation^[1]

Referral criteria

All confirmed thalassaemia major / intermediaHaematology service for transfusion programme, chelation, and surveillance^[1]
Severe cardiac iron overload (T2* <10 ms or HF)Cardiology and haematology with intensive chelation^[1]
Eligibility for HSCT or gene therapyTertiary haematology / BMT centre^[1]
Pregnancy with thalassaemia or carrier statusJoint haematology, obstetric, and antenatal genetics clinic^[1]

Clinical summary

Diagnosis, transfusion, iron chelation, and curative pathway for beta thalassaemia major and intermedia in adults and children.

References

1.ICMR Guidelines for Thalassemia Management (2022); Thalassaemia International Federation Standards of Care (TIF 2021); MoHFW National Haemoglobinopathy Programme (2022)