GPAtlas🧭 When to suspect
Beta-thalassaemia is an autosomal recessive disorder of beta-globin chain synthesis, producing a spectrum from a silent carrier state to lifelong transfusion dependence. The two clinical pictures a GP must recognise sit at opposite ends of that spectrum.
Suspect beta-thalassaemia trait (minor) in an asymptomatic person whose MCV and MCH are strikingly low and out of proportion to a mild or absent anaemia – classically with a raised (not low) red cell count. Suspect beta-thalassaemia major in an infant of 3–6 months who develops severe anaemia, faltering growth and hepatosplenomegaly as the switch from fetal to adult haemoglobin fails. Risk is highest in people of Mediterranean, Middle Eastern, South Asian and South-East Asian family origin, and is increased by consanguinity and a family history of thalassaemia or unexplained severe anaemia.
The two core primary-care skills are to separate trait from iron deficiency (and avoid reflexively prescribing iron), and to recognise and refer the affected child early.
| Type | Genetics & severity | Recognition pattern |
|---|---|---|
| Trait (minor) | One faulty gene (heterozygous carrier); healthy | Very low MCV/MCH disproportionate to mild/absent anaemia; raised RBC; normal/raised ferritin; HbA2 > 3.5% |
| Intermedia | Variable genotype; moderate anaemia | Symptomatic anaemia but not regularly transfusion-dependent; may iron-load even without transfusion |
| Major | Two faulty genes (homozygous); severe | Transfusion-dependent from 3–6 months; faltering growth, hepatosplenomegaly; HbF high, HbA absent |
Source: BSH 2023 · NHS Sickle Cell and Thalassaemia Screening Programme
🔒 Sign up free to read the full topic
You're viewing a free preview. Create a free account to unlock the rest.
Sign up free →Sample topics are open to everyone in the Free Sample Bundle.