Thalassaemia
A 16 year old non-European is referred for review in the haematology clinic with a history of 'thalassaemia' treated abroad with blood transfusions.
What our notes say
- A 16 year old non-European is referred for review in the haematology clinic with a history of 'thalassaemia' treated abroad with blood transfusions. (Haematology paper 1 Past Papers — Past Paper Questions & Answers)
- Alpha-thalassaemia trait; risk to offspring is clinically insignificant (Haematopathology MCQs: Blood Disorders & Anemia Explained)
- Beta-thalassaemia trait; if his wife also has trait, there is a 25% chance of beta-thalassaemia major per pregnancy (Haematopathology MCQs: Blood Disorders & Anemia Explained)
- Thalassaemia and iron deficiency are microcytic; B12 deficiency and sideroblastic anaemia are typically macrocytic. ★ Low RPI = bone marrow problem, not peripheral destruction. (Hematopathology MCQs & Essays: MBChB Exam Revision Guide)
- Topics tested: pneumonia, bronchiectasis, lung disease, hypertension, heart failure, endocarditis, rheumatic fever, rheumatoid arthritis and gout, anaemias and thalassaemia, liver disease and hepatitis, renal disease and stones, malaria, leishmaniasis and sepsis. (Junior Clerkship in Internal Medicine (MBIM4100) main exam, Paper One: 31 Januar)
- Normal ferritin points elsewhere (thalassaemia, chronic disease). (Junior Clerkship in Internal Medicine (MBIM4100) main exam, Paper One: 31 Januar)
Study material on Thalassaemia
- Haematology Revision: Haematopoiesis, Anaemia & IDA Guide
- Haematopathology MCQs: Blood Disorders & Anemia Explained
- Junior Clerkship in Internal Medicine (MBIM4100) main exam, Paper One: 31 January 2024
- Haematology Exam 2025: MCQs on Anaemia, Leukaemia & Clotting
- Hematopathology MCQs & Essays: MBChB Exam Revision Guide
- Renal, Liver, Cardiac & Adrenal Function Tests for Year 3
- Approach to anaemia
- Haematology End of Year 2025 Past Paper — MKU MBML 3200 Questions & Answers
- Year 3: Haematology and Blood Transfusion Pathology
- Internal Medicine (MBIM 4100) special/supplementary exam, Paper Two: 14 August 2019
Practice questions on Thalassaemia
Beta-thalassaemia major is caused by
- Deletion of alpha-globin genes
- Mutations causing absent or reduced beta-globin chains
- Defective haem synthesis
- Abnormal globin chain folding only
Answer: B. Mutations in the beta-globin gene reduce (β+) or abolish (β0) beta-chain production, causing excess unpaired alpha chains that damage RBCs. ---
In thalassaemia major, anaemia is primarily caused by
- Iron deficiency
- Bone marrow failure
- Vitamin B12 deficiency
- Defective globin chain synthesis
Answer: D. Imbalanced globin chain production causes ineffective erythropoiesis and haemolysis of defective red cells. ---