Plain-language explanations of the words you'll hear from doctors. Bookmark this page for appointments.
Acute Chest Syndrome (ACS), A lung complication in sickle cell disease. Symptoms include chest pain, fever, cough, and trouble breathing. Treated urgently in hospital.
Alloimmunisation, When your body makes antibodies against transfused blood. Can make finding compatible blood harder over time.
Alpha-globin, One of the two main proteins that make up adult haemoglobin. Faulty alpha-globin genes cause alpha thalassaemia.
Anaemia, Low haemoglobin (or low red blood cell count). Causes tiredness, paleness, shortness of breath.
Antenatal, Before birth. Antenatal screening = tests done during pregnancy.
Beta-globin, The other major protein in adult haemoglobin. Faulty beta-globin genes cause beta thalassaemia.
Beta Thalassaemia Major, The most severe form of beta thalassaemia. Requires lifelong transfusions and chelation.
Beta Thalassaemia Minor, Carrier status. Usually no symptoms; matters for family planning.
Bone Marrow Transplant, A treatment that replaces faulty blood-forming cells with healthy ones from a donor. Can cure thalassaemia and sickle cell in some patients.
Carrier, Someone who has one copy of an abnormal gene and one normal copy. Usually no symptoms, but can pass the gene to children.
Chelation Therapy, Medication that removes excess iron from the body. Essential for people receiving regular transfusions.
CVS (Chorionic Villus Sampling), A prenatal test at 11-13 weeks that takes a tiny sample of placental tissue to check for genetic conditions.
Deferasirox / Deferiprone / Desferrioxamine, Three different iron-chelation medications. Each works slightly differently; your doctor will choose what's right.
Electrophoresis, A blood test that separates haemoglobin types, the standard test for thalassaemia and sickle cell.
Erythropoiesis, The process of making red blood cells. Sometimes "ineffective erythropoiesis" is mentioned, meaning the body's red cell production isn't working well.
Ferritin, A protein that stores iron. High ferritin in transfused patients indicates iron overload.
Foetal Haemoglobin (HbF), A type of haemoglobin we make as babies. Some medications (like hydroxyurea) increase HbF, helpful in sickle cell.
Gene Therapy, A newer treatment that modifies the patient's own cells to fix the underlying genetic problem. Approved internationally for some patients.
Genetic Counselling, A conversation with a specialist about inheritance, testing options, and family planning.
Haematology / Haematologist, The specialty of blood disorders / a doctor who specialises in them.
Haemoglobin (Hb), The protein in red blood cells that carries oxygen. Low haemoglobin = anaemia.
Haemoglobinopathy, Umbrella term for inherited haemoglobin disorders (thalassaemia, sickle cell).
HbA, Normal adult haemoglobin.
HbA2, A small portion of normal adult haemoglobin. Increased in beta thalassaemia carriers.
HbF, See "Foetal Haemoglobin".
HbS, Sickle haemoglobin. Causes red blood cells to become sickle-shaped.
HbSS / HbSC / HbS-β-thal, Different combinations of sickle and other haemoglobin genes. Each has different severity.
Hydroxyurea (Hydroxycarbamide), A daily medication that reduces pain crises in sickle cell.
Hydrops Fetalis, The most severe form of alpha thalassaemia. Usually fatal before birth.
Iron Overload, Too much iron in the body, usually from regular transfusions. Causes damage to heart, liver, and endocrine system if not treated.
Pain Crisis (Vaso-occlusive Crisis), Severe pain in sickle cell, caused by blocked blood flow. Can require hospitalisation.
PGD (Pre-implantation Genetic Diagnosis), IVF technique that tests embryos for genetic conditions before implantation.
Prophylaxis, Treatment to prevent something. E.g. "penicillin prophylaxis" for sickle cell children.
Sickle Cell Disease (SCD), Umbrella term for conditions caused by sickle haemoglobin (HbS).
Splenectomy, Surgical removal of the spleen. Sometimes needed for thalassaemia patients with severe complications.
Splenomegaly, Enlarged spleen. Common in untreated thalassaemia.
TCD (Transcranial Doppler), An ultrasound used to screen children with sickle cell for stroke risk. Annual from age 2-16.
Thalassaemia, Inherited disorder where the body can't make enough haemoglobin.
Transfusion, Receiving donated blood. Lifelong for Beta Major; intermittent for others.
Don't see a term you're looking for? Email us, we'll add it. tascanz@muskaancaretrust.org.nz
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