AKT · Haematology/Anaemia & red celllow yield

Haemoglobinopathies (thalassaemia)

Inherited reduced/absent globin-chain synthesis (α or β) → microcytic anaemia ± ineffective erythropoiesis

Overview

Inherited disorders of reduced or absent globin-chain synthesis — alpha (α-chain) or beta (β-chain) thalassaemia. They range from a clinically silent/microcytic-trait picture to transfusion-dependent major (β-thalassaemia major — severe anaemia, extramedullary haematopoiesis, iron overload). The key practical points: thalassaemia trait is a microcytic anaemia with NORMAL ferritin (don't mistake it for iron deficiency), and transfusion-dependent disease causes iron overload needing chelation.

Recognise

Trait: mild microcytic anaemia with a NORMAL/raised ferritin and a disproportionately low MCV for the degree of anaemia (often mistaken for iron deficiency)
β-thalassaemia major: severe transfusion-dependent anaemia from infancy, failure to thrive, hepatosplenomegaly, skull bossing/'hair-on-end' skull X-ray (extramedullary haematopoiesis)
Ancestry: Mediterranean, Middle-Eastern, South/Southeast Asian, African; confirmed on haemoglobin electrophoresis/HPLC

Red flags

Transfusion-dependent disease → IRON OVERLOAD (cardiac, liver, endocrine) → needs iron chelation
Don't give iron for a microcytic anaemia with normal/high ferritin (thalassaemia trait) — it causes iron overload

Differentials & how to tell them apart

Iron-deficiency anaemiamicrocytic with LOW ferritin — thalassaemia trait has normal/high ferritin; don't give iron in trait

Sickle cell disease / HbSCelectrophoresis distinguishes; can co-inherit

Anaemia of chronic diseasenormocytic/microcytic with inflammation

Investigations

FBC (microcytic), ferritin (NORMAL/high in trait — distinguishes from iron deficiency); haemoglobin electrophoresis/HPLC (raised HbA2 in β-trait); blood film (target cells); genetic testing; antenatal/newborn screening; assess iron overload (ferritin, cardiac/liver imaging) in transfusion-dependent disease.

Management

Trait → no iron + counselling; major → transfusion + iron chelation

1Recognise thalassaemia trait as a microcytic anaemia with a NORMAL/high ferritin (confirm on electrophoresis — raised HbA2 in β-trait); provide genetic counselling. Do NOT give iron.Gate: Transfusion-dependent thalassaemia major causes IRON OVERLOAD — it needs iron chelation; giving iron for a microcytic anaemia without checking ferritin can worsen overload.
2Major → regular transfusions with iron chelation, folic acid, complication management; stem-cell transplant in selected children. Antenatal/newborn screening and counselling throughout.

Trait: no treatment, genetic counselling — recognise it (normal ferritin) so iron isn't given inappropriately; counsel re antenatal screening

Major: regular transfusion programme + IRON CHELATION (desferrioxamine/deferasirox) — transfusions cause iron overload — chelation prevents cardiac/endocrine/liver damage

Folic acid; manage complications — splenomegaly, gallstones, endocrinopathy from iron overload

Allogeneic stem-cell transplant — potentially curative in selected children

Key points

Microcytic anaemia with NORMAL/high ferritin + relevant ancestry = thalassaemia trait (raised HbA2 in β-trait) — NOT iron deficiency, so don't give iron. β-thalassaemia major = transfusion-dependent from infancy → iron overload needs CHELATION (desferrioxamine/deferasirox). 'Hair-on-end' skull, extramedullary haematopoiesis.

Monitor & prognosis

Ferritin/iron overload (cardiac/liver), transfusion needs, growth/endocrine; genetic counselling.

Trait benign; major requires lifelong transfusion/chelation; transplant curative in selected children.

Source: BSH thalassaemia; cross-ref child_health