GC097 Many Members Of The Family Have Anaemia (MED)
A clinical scenario in which multiple family members present with anaemia, suggesting an inherited haemoglobinopathy or red cell disorder such as thalassaemia, sickle cell disease, or hereditary spherocytosis.
This lecture by Dr. Eric Tse (Medicine) covers inherited diseases of haemoglobin — their diagnosis and treatment. It is one half of the GC 097 session (the other half, by Pathology, covers the laboratory side). The core message is simple but powerful: mutations in globin genes cause disease either by making too little globin (thalassaemia = quantitative defect) or by making structurally abnormal globin (haemoglobinopathy = qualitative defect). In Hong Kong clinical practice (and exams), thalassaemia is by far the most clinically relevant inherited haemoglobin disorder, while sickle cell disease is rare. [1]
Why this matters for your exam:
- Thalassaemia trait is the most common cause of hypochromic microcytic anaemia that is NOT iron deficiency — distinguishing these two is a favourite exam stem.
- Questions on thalassaemia classification, clinical syndromes, prenatal screening, and iron overload are recurrent.
- Understanding the structure of haemoglobin from first principles lets you reason through any question on this topic without rote memorization.
Learning Objectives (from slides):
- Understand the structure of haemoglobin and the genetic basis of inherited haemoglobin disorders.
- Classify thalassaemias and haemoglobinopathies.
- Recognise the clinical syndromes: thalassaemia major, intermedia, and trait.
- Differentiate thalassaemia trait from iron deficiency anaemia.
- Know the key haemoglobinopathies (HbS, unstable Hbs, altered O₂ affinity, methaemoglobinaemia).
- Understand the principles of family screening, prenatal diagnosis, and management.
Core Concepts from First Principles
Each haemoglobin molecule consists of 4 globin chains (2 α + 2 non-α), each containing one haem group with one iron atom in the ferrous (Fe²⁺) state. [1]
- Adult Hb A (α₂β₂) — ~97% of adult Hb
- Hb A₂ (α₂δ₂) — ~2.5%
- Hb F (α₂γ₂) — < 1% in adults, predominant in fetal life
Why does this matter? Because every inherited haemoglobin disorder ultimately traces back to a problem with one or more of these globin chains. If you know which chain is affected and how, you can predict the clinical phenotype.
Abnormal haemoglobins are caused by mutations of genes encoding the globin chains. These gene mutations may result in: (1) decreased production of globin chains (thalassaemia), or (2) globin chains with abnormal function (haemoglobinopathy). [1]
| Feature | Thalassaemia | Haemoglobinopathy |
|---|---|---|
| Nature of defect | Quantitative — reduced/absent globin chain synthesis | Qualitative — structurally abnormal globin chain |
| Mechanism | Imbalanced α/β chain ratio → precipitation of excess unpaired chains → ineffective erythropoiesis + haemolysis | Abnormal Hb function (sickling, instability, altered O₂ affinity, metHb) |
| Examples | α-thalassaemia, β-thalassaemia | HbS (sickle), HbKöln (unstable), high/low O₂ affinity Hb, metHb |
α-thalassaemia: Due to mutations involving the α globin gene (Chr 16). There are 4 α globin gene loci. α globin gene is mainly affected by deletions, but mutations may also be found. [1]
β-thalassaemia: Due to mutations involving the β globin gene (Chr 11). There are 2 β globin gene loci. β globin gene is mainly affected by mutations, but deletions may also be found. [1]
First-principles explanation:
- Chromosome 16 carries two α-globin genes per chromosome → each person has 4 copies (αα/αα). Most α-thal results from gene deletions (whole gene segments lost).
- Chromosome 11 carries one β-globin gene per chromosome → each person has 2 copies. Most β-thal results from point mutations (single nucleotide changes affecting transcription, splicing, or translation).
β⁰ mutations: no β chain produced. β⁺ mutations: β chain production much reduced. [1]
This distinction is critical because the clinical severity depends on how much residual β-chain production remains.
High Yield – Gene Locus Numbers
α-globin: 4 gene loci (2 per chromosome 16) → mainly deletions β-globin: 2 gene loci (1 per chromosome 11) → mainly point mutations These numbers directly determine the clinical classification system.
Clinical Syndromes of Thalassaemia
Clinical syndromes of thalassaemia: (1) Thalassaemia major, (2) Thalassaemia intermedia, (3) Thalassaemia trait. [1]
| Syndrome | α-Thalassaemia | β-Thalassaemia | Severity |
|---|---|---|---|
| Major | All 4 α genes deleted (--/--) | Both β genes mutated: β⁰/β⁰ or β⁰/β⁺ | Lethal / transfusion-dependent |
| Intermedia | 3 α genes deleted (--/-α) | Both β genes mutated: β⁺/β⁺ | Moderate anaemia (Hb 6–10 g/dL) |
| Trait | 1 or 2 α genes deleted (-α/αα or --/αα or -α/-α) | 1 β gene mutated (β⁰/β or β⁺/β) | Mild/no anaemia (Hb 10–13 g/dL) |
Thalassaemia Major — The Worst End of the Spectrum
α thalassaemia major: hydrops fetalis (Hb Bart's – 4γ globin). Dies in utero or after birth. May survive if active measures are taken. [1]
Why? With zero α-chains, the fetus cannot make any functional haemoglobin (HbF = α₂γ₂ needs α-chains too). The excess γ-chains form Hb Bart's (γ₄), which has an extremely high oxygen affinity and essentially does not release O₂ to tissues → severe tissue hypoxia → massive oedema (hydrops) → intrauterine death or death shortly after birth.
"Active measures" refers to intrauterine transfusion and postnatal management including stem cell transplant — but this is extremely challenging.
β thalassaemia major (Cooley's anaemia): anaemia in first year of life. Transfusion dependent for life. [1]
Why first year? At birth, HbF (α₂γ₂) predominates. The γ→β globin switch occurs over the first 6 months of life. As β-chain demand rises and production fails, anaemia declares itself. These patients cannot survive without regular red cell transfusions, leading to the inevitable complication of iron overload.
High Yield – Iron Overload in Transfusion-Dependent Thalassaemia
A 30-year-old transfusion-dependent thalassaemia patient admitted for decompensated heart failure with EF 15% and poor medication compliance → the most likely cause is haemochromatosis (iron overload cardiomyopathy). This is directly from a past paper MCQ [8]. Iron chelation compliance is life-saving. Each unit of blood contains ~200–250 mg iron with no physiological excretion mechanism.
Complications of β-thalassaemia major:
- Iron overload → cardiac (cardiomyopathy, arrhythmia), hepatic (cirrhosis), endocrine (diabetes, hypogonadism, hypothyroidism, growth failure)
- Skeletal deformities — marrow expansion due to chronic erythroid hyperplasia → "hair-on-end" skull X-ray, frontal bossing, maxillary prominence ("chipmunk facies")
- Splenomegaly → due to extramedullary haematopoiesis and haemolysis
- Pigmented gallstones → chronic haemolysis → ↑unconjugated bilirubin
- Infections — if splenectomised → encapsulated organisms [2][3]
α thalassaemia intermedia (haemoglobin H disease – 4β globin). β thalassaemia intermedia: Moderate degree of anaemia, haemoglobin 6–10 g/dL. Mild jaundice. Mild to moderate splenomegaly. [1]
HbH disease (3 α-gene deletions): The excess β-chains form HbH (β₄). HbH is unstable and precipitates as Heinz body-like inclusions, leading to haemolysis. HbH also has high O₂ affinity (like Hb Bart's, but milder), causing a functional anaemia worse than the Hb number suggests.
β-thalassaemia intermedia (β⁺/β⁺): Some β-chains are still made, so these patients are NOT transfusion-dependent but have chronic moderate anaemia, need monitoring, and may require intermittent transfusions during crises (infection, pregnancy, surgery).
Why mild jaundice? Chronic low-grade haemolysis → unconjugated hyperbilirubinaemia. Why splenomegaly? The spleen is working overtime clearing damaged RBCs + extramedullary haematopoiesis. [1][3]
α thalassaemia trait (1 or 2 α genes deleted). β thalassaemia trait (1 β gene mutated). Mild to no anaemia (Haemoglobin 10–13 g/dL). Mild to no jaundice. Usually no splenomegaly. [1]
These individuals are carriers. They are usually well and discovered incidentally via a routine CBP showing microcytosis out of proportion to the degree of anaemia. The clinical importance is genetic counselling — two carriers can have an affected child.
1. Differential diagnosis of hypochromic microcytic anaemia. 2. Differential diagnosis of mild splenomegaly. 3. Increased ferritin in some cases. 4. Family screening is needed when one member is diagnosed to have thalassaemia. 5. For at-risk couples, pre-natal diagnosis is needed when pregnancy occurs. 6. When the anaemia is more severe than what one expects from the thalassaemia, investigations for other causes of anaemia are necessary. [1][4]
Let me unpack each one:
- DDx of microcytic anaemia — thalassaemia trait is the #1 mimic of iron deficiency; you MUST differentiate them because giving iron to a thalassaemia patient can cause harm (iron overload).
- DDx of mild splenomegaly — thalassaemia intermedia/HbH cause minimal splenomegaly [3].
- Increased ferritin — ineffective erythropoiesis leads to ↑iron absorption from the gut even without transfusions (especially in thalassaemia intermedia). This is counter-intuitive: the patient is anaemic but iron-loaded.
- Family screening — autosomal recessive inheritance means siblings and parents need checking.
- Prenatal diagnosis — if both parents are carriers (especially β⁰), there is a 25% chance of thalassaemia major in each pregnancy. Chorionic villus sampling (CVS) at ~11 weeks can detect the mutation.
- "Anaemia worse than expected" — if a patient with thalassaemia trait has Hb of 7 g/dL, something else is going on (e.g., concurrent iron deficiency from GI blood loss, or coexisting B12/folate deficiency). Always investigate the discrepancy.
This table is one of the most examined comparisons in the entire haematology curriculum. [1]
| Parameter | Thalassaemia Trait | Iron Deficiency Anaemia |
|---|---|---|
| Haemoglobin | 10–13 g/dL | Any level (can be very low) |
| RBC count | Normal or ↑ | Decreased |
| MCV | ↓ but usually not < 65 fL | Any level (can be very low) |
| Serum iron | Normal | Decreased |
| TIBC | Normal | Increased |
| % Iron saturation | Normal | Decreased |
Why is RBC count high in thalassaemia trait? Because the bone marrow is producing plenty of red cells — the cells are just small (microcytic) and have less haemoglobin. The marrow's response to the mild anaemia is effective, so RBC count is preserved or even elevated. In iron deficiency, the marrow lacks raw material, so RBC count falls.
Why is MCV usually not below 65 fL in thalassaemia trait? In trait, only one gene locus is affected (or two for α-thal). The remaining normal genes produce enough globin to maintain a reasonable cell volume. MCV < 65 fL suggests either a more severe genotype or concomitant iron deficiency.
Exam Favourite – MCV and Iron Studies
A common trap: a young woman with microcytic anaemia and low ferritin → don't just diagnose iron deficiency. Check if she also has thalassaemia trait (especially in SE Asian populations). Conversely, a patient with "thalassaemia trait" and unexpectedly low Hb/very low MCV may have concurrent iron deficiency that needs treatment.
Additional distinguishing tests (from supporting context):
- Hb pattern study (HPLC/Hb electrophoresis): β-thal trait shows ↑HbA₂ ( > 3.5%) and sometimes mildly ↑HbF. This is the most useful screening test for thalassaemia in antenatal care [7].
- Serum ferritin: Normal or ↑ in thalassaemia trait; ↓ in iron deficiency (but can be confounded by infection/inflammation as ferritin is an acute phase reactant).
- TIBC: The most useful discriminator between iron deficiency and anaemia of chronic disease according to lecture material [5].
Haemoglobinopathies — Qualitative Defects
Abnormal globin structure (haemoglobinopathy) leading to abnormal haemoglobin functions: (1) Aggregation and reduced solubility, (2) Unstable structure, (3) Increased oxygen affinity, (4) Decreased oxygen affinity, (5) Methaemoglobinaemia. [1]
Haemoglobin S: Sickle cell. Occurs in people with black ancestry. Not found in the Chinese. Sickling of red blood cells when oxygen is decreased. [1]
Mechanism from first principles:
- A single point mutation (Glu→Val at position 6 of the β-globin chain) creates HbS.
- In the deoxygenated state, the valine residue creates a hydrophobic "sticky patch" that allows HbS molecules to polymerise into rigid fibres → distorts the RBC into a sickle shape.
- Sickled cells are rigid → cannot deform to pass through capillaries → vaso-occlusion → ischaemia and pain crises.
- Sickled cells are also rapidly destroyed → chronic haemolytic anaemia.
Why mention "not found in the Chinese"? This is clinically relevant in HK practice — if a Chinese patient in HK has microcytic anaemia, sickle cell disease is essentially not in the differential.
Haemoglobin Köln: Unstable haemoglobin chains that unfold and precipitate. Precipitated haemoglobin: Heinz body. Haemolytic anaemia, which may be triggered and exacerbated by infective episodes. [1]
Mechanism: The mutation destabilises the tertiary structure of the globin chain → the Hb molecule denatures and precipitates as Heinz bodies (seen on supravital staining with crystal violet/methylene blue). These inclusion-bearing RBCs are trapped in the spleen → haemolysis. Infections cause oxidative stress that accelerates denaturation → acute haemolytic crises.
Less likely to release the bound oxygen. Causes erythrocytosis. [1]
Why erythrocytosis? The Hb holds on too tightly to O₂ → tissues sense relative hypoxia → ↑EPO → ↑RBC production. The patient may have a high Hb/haematocrit but is NOT polycythaemia vera — an important differential.
SpO₂ will be decreased, with patient relatively asymptomatic. [1]
Why asymptomatic? The Hb releases O₂ more readily → tissues are actually well-oxygenated despite a low SpO₂ reading. The pulse oximeter reads low because it detects Hb desaturation, but the effective O₂ delivery is fine. This can cause alarm on monitoring — clinical awareness prevents unnecessary workup.
Mutations lead to the iron in the haeme ring being maintained at a ferric (Fe³⁺) state. Methaemoglobin is blue in colour. Methaemoglobin is increased in the presence of oxidizing agents. [1]
First principles: Normal haem iron is Fe²⁺ (ferrous), which binds O₂ reversibly. Fe³⁺ (ferric) = methaemoglobin = cannot bind O₂. Congenital metHb can result from:
- Mutations in Hb that stabilise Fe³⁺ (HbM)
- Deficiency of cytochrome b5 reductase (the enzyme that normally reduces metHb back to Hb)
Clinically: the patient appears cyanotic ("blue") but is not hypoxic in the same way as cardiopulmonary disease. SpO₂ characteristically reads ~85% and does not improve with supplemental O₂.
Acquired methaemoglobinaemia (exaggerated by oxidising agents like dapsone, nitrites, local anaesthetics) is more common than the hereditary form and is treated with IV methylene blue.
| Type | Example | Key Feature | Clinical Consequence |
|---|---|---|---|
| Aggregation/↓ solubility | HbS | Polymerisation when deoxygenated | Sickling → vaso-occlusion, haemolysis |
| Unstable | Hb Köln | Denaturation → Heinz bodies | Chronic haemolytic anaemia, ↑ with infection |
| ↑ O₂ affinity | Various | Hb won't release O₂ | Erythrocytosis (compensatory) |
| ↓ O₂ affinity | Various | Hb releases O₂ too easily | Low SpO₂ but asymptomatic |
| Methaemoglobinaemia | HbM | Fe³⁺ cannot carry O₂ | Cyanosis, ↑ with oxidising agents |
Clinical Approach
- Family history — pattern of inheritance (autosomal recessive for thalassaemia), ethnicity (SE Asian for α-thal, Mediterranean/Middle East for β-thal, African for HbS)
- Age of onset — thal major presents in first year; trait may be lifelong with no symptoms
- Drug history — oxidant drugs can precipitate crises in G6PD/unstable Hb
- Symptoms of haemolysis — jaundice, dark urine, fatigue
- Transfusion requirement — how often? How many units?
- Complications of long-term transfusion — features of iron overload (cardiac, hepatic, endocrine)
- Pallor — conjunctival, palmar crease
- Jaundice — scleral icterus → haemolysis
- Splenomegaly — mild in trait/intermedia; may be massive in poorly managed major
- Skin complexion — bronze/grey in iron overload
- Skeletal deformities — frontal bossing, maxillary prominence (marrow expansion in thal major)
| Investigation | Purpose |
|---|---|
| CBP + reticulocyte count | Assess degree/type of anaemia; reticulocytes ↑ in haemolysis |
| Blood film | Target cells (thal), sickle cells, Heinz bodies, nucleated RBCs |
| Iron studies (serum iron, TIBC, ferritin) | Distinguish thal trait from iron deficiency |
| Hb pattern study (HPLC / Hb electrophoresis) | ↑HbA₂ in β-thal trait; HbH inclusions in HbH disease; HbS in sickle cell |
| Genetic/DNA analysis | Definitive — identifies specific mutations for prenatal counselling |
| Serum bilirubin, LDH, haptoglobin | Haemolysis markers |
| Liver and cardiac MRI (T2)* | Iron loading assessment in transfusion-dependent patients |
Antenatal Screening — Past Paper Point
The most useful screening test for thalassaemia in the antenatal period is the haemoglobin pattern study (HPLC) — NOT family history, Hb level, or MCV alone [7]. MCV can suggest it, but Hb pattern study confirms β-thal trait by showing ↑HbA₂. For α-thal trait, DNA analysis may be needed as Hb pattern can be normal.
| Severity | Management |
|---|---|
| Thalassaemia trait | Reassurance, genetic counselling, avoid unnecessary iron therapy, screen partner if planning pregnancy |
| Thalassaemia intermedia | Monitor; folic acid supplementation; intermittent transfusion for crises; iron chelation if iron-loaded; splenectomy if hypersplenism |
| Thalassaemia major | Regular transfusions (target pre-transfusion Hb 9–10 g/dL); iron chelation (desferrioxamine, deferasirox, deferiprone); stem cell transplant (curative); gene therapy (emerging) |
| Haemoglobinopathies | Depends on type — sickle cell: hydroxyurea, crisis management; unstable Hb: avoid oxidants; metHb: methylene blue for acute acquired episodes |
Iron chelation agents:
| Agent | Route | Key Feature |
|---|---|---|
| Desferrioxamine (DFO) | SC/IV infusion (8–12 hrs) | Gold standard; compliance is the main issue |
| Deferasirox | Oral once daily | Convenient; monitor renal/hepatic function |
| Deferiprone | Oral TDS | Best cardiac iron removal; risk of agranulocytosis |
Integration with Related Material
Thalassaemia intermedia and HbH disease cause minimal splenomegaly (1–2 cm). This contrasts with CML/myelofibrosis (massive, > 10 cm) and portal hypertension/lymphoma (moderate). This size classification is a favourite exam question.
Thalassaemia causes falsely low HbA1c due to shortened RBC lifespan (excess haemolysis). In diabetic patients with coexisting thalassaemia, HbA1c underestimates glycaemic control. Use fructosamine or continuous glucose monitoring instead.
CKD causes normochromic normocytic anaemia (EPO deficiency), whereas thalassaemia is hypochromic microcytic. Both can coexist. If a thalassaemia patient develops CKD, the anaemia worsens out of proportion — investigate.
Past Paper–Derived Exam Intelligence
| Year | Question | Key Learning Point |
|---|---|---|
| 2020 Q30 [10] | 32F, pale, Hb 7.7, MCV 99, WBC 2.8, Plt 70 → Aplastic anaemia (pancytopenia + macrocytosis + no hepatosplenomegaly) | Thalassaemia intermedia is a distractor — it causes microcytosis, not macrocytosis; and WBC/platelets are usually normal |
| 2020 Q31 [10] | 25F, Hb 10.7, MCV 78, Plt 33 → Thalassaemia intermedia with hypersplenism | Microcytosis + low platelets = hypersplenism from splenomegaly in thal intermedia; ITP has normal MCV |
| 2021 Q28 [8] | 30M transfusion-dependent thal, EF 15%, poor compliance → Haemochromatosis | Iron overload cardiomyopathy is THE cardiac complication of thal major with poor chelation adherence |
| 2022 Q12 [7] | 20F pregnant, FHx thalassaemia, microcytic anaemia → Best screening test? Hb pattern study | Not family history, not Hb level, not MCV — Hb pattern study (HPLC) is the answer |
- Confusing thalassaemia trait with iron deficiency — look at RBC count (↑ in thal trait, ↓ in iron deficiency) and iron studies (normal in thal trait).
- Giving iron to thalassaemia patients — increases iron overload without improving anaemia.
- Forgetting that α-thal trait has NORMAL HbA₂ — unlike β-thal trait where HbA₂ is elevated. α-thal trait needs DNA analysis.
- Mistaking HbH disease for IDA — both are microcytic, but HbH has haemolysis markers and splenomegaly.
- Not recognising that β-thal major presents AFTER 6 months — because γ→β switch has not occurred at birth.
- Hb Bart's (γ₄) vs HbH (β₄) — Bart's = α-thal major (lethal hydrops); HbH = 3 α-gene deletions (intermedia, compatible with life).
Q1 (MCQ style): A 25-year-old Chinese woman has Hb 11 g/dL, MCV 72 fL, and a normal RBC count. Serum iron and TIBC are normal. What is the most likely diagnosis? → β-thalassaemia trait (mild microcytosis, normal iron studies, normal/high RBC count)
Q2 (SAQ style): Explain why Hb Bart's hydrops fetalis is lethal. → No α-chains → cannot make any functional Hb (HbF, HbA, HbA₂ all require α-chains). Excess γ-chains form Hb Bart's (γ₄) with very high O₂ affinity → cannot release O₂ to tissues → severe tissue hypoxia → hydrops and death.
Q3 (MCQ): A transfusion-dependent thalassaemia patient with poor chelation compliance presents with heart failure. What is the cause? → Iron overload (haemochromatosis) cardiomyopathy.
Q4 (SAQ): Name 3 differences between thalassaemia trait and iron deficiency anaemia. → (i) RBC count: normal/↑ in thal, ↓ in IDA. (ii) Iron studies: normal in thal, low iron/high TIBC in IDA. (iii) MCV: usually not < 65 fL in thal trait; can be very low in IDA.
Q5 (MCQ): What is the most useful screening test for thalassaemia in the antenatal period? → Haemoglobin pattern study (HPLC).
High Yield Summary
Thalassaemia = quantitative defect (decreased globin chain production). Haemoglobinopathy = qualitative defect (structurally abnormal globin).
α-thal: 4 gene loci on Chr 16, mainly deletions. 4 deleted = Hb Bart's hydrops (lethal). 3 deleted = HbH disease (intermedia). 1–2 deleted = trait (mild/no anaemia).
β-thal: 2 gene loci on Chr 11, mainly point mutations. β⁰/β⁰ or β⁰/β⁺ = major (transfusion-dependent from first year). β⁺/β⁺ = intermedia (Hb 6–10). 1 mutation = trait (Hb 10–13).
Thal trait vs IDA: RBC count ↑ in thal, ↓ in IDA. Iron studies normal in thal, abnormal in IDA. MCV usually > 65 fL in thal trait. Hb pattern study is the key confirmatory and antenatal screening test.
Haemoglobinopathies: HbS (sickling in Africans, not Chinese), unstable Hb (Heinz bodies), ↑O₂ affinity (erythrocytosis), ↓O₂ affinity (low SpO₂, asymptomatic), metHb (cyanosis, worsened by oxidants).
Management of thal major: lifelong transfusion + iron chelation ± stem cell transplant. Iron overload cardiomyopathy is the #1 cause of death in poorly chelated patients.
Family screening and prenatal diagnosis are essential for at-risk couples.
Active Recall - Inherited Haemoglobin Disorders
[1] Lecture slides: GC 097. Many members of the family have anaemia (MED).pdf [2] Senior notes: Block A - Family history of anaemia: inherited causes of anaemia; haemolytic anaemia; aplastic anaemia.pdf [3] Senior notes: Ryan Ho Haemtology.pdf (splenomegaly classification, hereditary spherocytosis sections) [4] Lecture slides: GC 097. Many members of the family have anaemia (File 1).pdf (slide 12 — thalassaemia intermedia/trait clinical points) [5] Senior notes: Block A - Pallor: diagnosis of anaemia; nutritional anaemia; anaemia of systemic diseases.pdf [6] Senior notes: Block A - Polyuria and polydipsia: glucose metabolism; diabetes mellitus; diabetic ketoacidosis.pdf (HbA1c limitations in thalassaemia) [7] Past papers: 2022 Fourth Summative MCQ.pdf (Q12 — antenatal thalassaemia screening) [8] Past papers: 2021 Fourth Summative Assessment MCQ.pdf (Q28 — transfusion-dependent thal with heart failure) [9] Senior notes: Block A – Nephrology Data Interpretation.pdf (CKD normocytic anaemia) [10] Past papers: 2020 Fourth Summative Assessment MCQ paper.pdf (Q30, Q31 — aplastic anaemia vs thalassaemia intermedia)
GC097 Many Members Of The Family Have Anaemia (file 2)
A clinical teaching scenario in which a hereditary pattern of anaemia across multiple family members prompts evaluation for inherited haemoglobin disorders such as thalassaemia or sickle cell disease, or other genetic causes like hereditary spherocytosis.
GC097 Many Members Of The Family Have Anaemia (PATH)
Hereditary anaemia is a group of inherited disorders—such as thalassemias, sickle cell disease, hereditary spherocytosis, and G6PD deficiency—in which genetic mutations affecting hemoglobin structure, red cell membrane integrity, or erythrocyte enzymes lead to chronic or episodic anaemia across multiple family members.