Thalassaemia glossary

• Alloimmunisation

  When the body makes antibodies against donor blood after transfusions. Careful blood matching (C, c, D, E, e, Kell) reduces the risk.

• Alpha thalassaemia

  A form of thalassaemia affecting the alpha-globin chains of haemoglobin. Severity ranges from a silent carrier state to serious illness.

• Beta thalassaemia

  A form affecting the beta-globin chains. Beta-thalassaemia major is the transfusion-dependent form.

• Bone age

  A hand and wrist X-ray showing how mature the skeleton is compared with actual age — used to predict remaining growth.

• Cardiac T2*

  An MRI reading of iron in the heart muscle, in milliseconds. Higher is better: above 20 ms is normal, below 10 ms needs urgent review.

• Carrier (trait)

  Someone with one affected haemoglobin gene. Usually healthy, but can pass the gene to their children.

• Chelation

  Medicine that binds excess iron so the body can remove it — the counterpart to transfusions.

• Deferasirox

  A once-daily oral (tablet) iron chelator. Brand names include Exjade and Jadenu.

• Deferiprone

  An oral iron chelator especially good at clearing heart iron. Needs regular blood-count checks. Brand name Ferriprox.

• Deferoxamine

  An iron chelator given as a slow infusion under the skin, usually overnight. Brand name Desferal.

• DEXA scan

  A quick, low-dose scan that measures bone density to check for thinning bones (osteoporosis).

• Endocrine

  To do with the hormone glands (thyroid, pancreas, pituitary and others), which iron overload can affect.

• Erythropoiesis

  The making of red blood cells in the bone marrow. In thalassaemia it can be “ineffective”.

• Extramedullary haematopoiesis

  Blood being made outside the bone marrow when the marrow is overworked — helped by good transfusion.

• Ferritin

  A blood test estimating stored body iron. Target usually 500–1,000 ng/mL; the trend matters more than one value.

• FerriScan (R2)

  A validated MRI method for measuring liver iron (LIC).

• Folic acid (folate)

  A vitamin that supports the making of new blood cells; often prescribed in thalassaemia.

• Gene therapy

  A treatment that corrects a person’s own blood-forming stem cells (by adding or editing genes) so no donor is needed.

• Haemoglobin (Hb)

  The protein in red blood cells that carries oxygen. Thalassaemia reduces how much healthy haemoglobin the body makes.

• Hepatocellular carcinoma (HCC)

  The main type of liver cancer. Its risk is higher with cirrhosis or high liver iron, so at-risk patients have regular liver ultrasound + AFP checks.

• HSCT (stem cell transplant)

  A bone marrow transplant — replacing faulty blood-forming cells with a donor’s healthy ones. The established cure.

• Hypogonadism

  When the body makes too little sex hormone, which can delay or interrupt puberty. Common in thalassaemia and treatable.

• Hypoparathyroidism

  Underactive parathyroid glands, which lowers blood calcium. Treated with calcium and active vitamin D.

• Hypothyroidism

  An underactive thyroid — more common in thalassaemia, usually easy to treat with a daily tablet.

• IGF-1

  A blood marker of growth-hormone activity, checked when growth is slow.

• Iron overload

  A build-up of iron from regular transfusions, which the body can’t remove on its own. Managed with chelation.

• Leucoreduction

  Filtering white cells out of donor blood before transfusion — it prevents many reactions.

• LIC

  Liver Iron Concentration — liver iron in mg per gram dry weight, usually from MRI. Target range 3–7.

• Luspatercept

  A newer injectable medicine (Reblozyl) that helps red cells mature and can reduce transfusion needs.

• Menarche

  A girl’s first menstrual period.

• MRI

  A scan using magnets (no radiation) that measures iron directly inside organs like the heart and liver.

• NTDT

  Non-Transfusion-Dependent Thalassaemia — enough haemoglobin to avoid regular transfusions, needing them only occasionally.

• Osteopenia

  Mildly reduced bone density (DEXA T-score between −1 and −2.5) — a step before osteoporosis.

• Osteoporosis

  Thinning, more fragile bones (DEXA T-score below −2.5). Common in thalassaemia but largely preventable with exercise, vitamin D, calcium and good chelation.

• OPSI

  Overwhelming Post-Splenectomy Infection — a rare but serious infection after the spleen is removed. Why fever is treated as urgent.

• Pituitary gland

  The brain’s “master gland” that controls growth and puberty. It is sensitive to iron.

• Pulmonary hypertension

  Raised pressure in the lung arteries, which can strain the heart. Screened for with an echocardiogram.

• Splenectomy

  An operation to remove the spleen. Afterwards, any fever should be treated as urgent and vaccinations kept up to date.

• Splenomegaly

  An enlarged spleen — common because the spleen works overtime filtering abnormal red cells.

• Tanner staging

  A doctor’s 1–5 rating of how far puberty has progressed, assessed at a check-up.

• TDT

  Transfusion-Dependent Thalassaemia — needing regular, lifelong transfusions to stay well.

• Transfusion

  Receiving donated red blood cells to top up your own and keep haemoglobin high enough.

• Trough (pre-transfusion Hb)

  Your lowest haemoglobin, measured just before the next transfusion. Usually kept around 90–105 g/L (9–10.5 g/dL).

• Vitamin D

  A vitamin vital for bone health, often low in thalassaemia. Kept in a healthy range with sunlight, diet and supplements.

• Zinc

  A mineral that supports growth, immunity and puberty. It can run low in thalassaemia, especially on chelation.

This is general information about thalassaemia, not medical advice. Your own care depends on your history and test results — always talk to your thalassaemia team before changing anything about your treatment.