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.
Laboratory Diagnosis of Haemoglobin Disorders
The Big Idea: This lecture (File 2) focuses on the laboratory diagnostic approach to haemoglobin disorders — specifically thalassaemias and haemoglobinopathies — from the pathologist's perspective. It complements File 1 (clinical haematology by Prof Eric Tse) by explaining how we actually detect, quantify, and confirm these disorders in the lab. The clinical importance is threefold: (1) diagnosing anaemia correctly so patients get proper treatment, (2) detecting carriers for genetic counselling, and (3) genotyping for prenatal diagnosis. [1]
How it fits into exams: Past papers frequently test the distinction between iron deficiency anaemia (IDA) and thalassaemia trait using CBC parameters, the laboratory approach to thalassaemia screening (MCV → Hb studies), and the principles behind HPLC/electrophoresis. The 2022 MCQ specifically asked about the most useful screening test for thalassaemia in the antenatal period (answer: MCV). [2]
Learning Objectives (from the lecture):
- Understand the laboratory tests and their principles for diagnosing thalassaemia and haemoglobinopathy
- Know the summary laboratory approach (diagnostic algorithm) for both categories
- Appreciate the role of molecular studies and prenatal diagnosis
Core Concepts: Haemoglobin Structure and Composition
Haemoglobin is a tetramer of two pairs of globin chains, each carrying a haem group with iron in the ferrous (Fe²⁺) state. [1]
To understand haemoglobin disorders, you must know what normal haemoglobin looks like:
| Haemoglobin | Composition | Normal Adult % |
|---|---|---|
| Hb A | α₂β₂ | > 95% |
| Hb A₂ | α₂δ₂ | 1–3% |
| Hb F | α₂γ₂ | < 1% |
Why these proportions matter:
- In β-thalassaemia, β-chain production is reduced → the body compensates by upregulating δ and γ chain production → Hb A₂ rises (> 3.5%) and Hb F rises — this is the diagnostic hallmark you look for on HPLC
- In α-thalassaemia, α-chain production is reduced → excess β chains form β₄ tetramers (Hb H) in adults, and excess γ chains form γ₄ tetramers (Hb Bart's) in neonates — these abnormal tetramers are the diagnostic targets
- α-globin gene cluster: chromosome 16 — contains two α-globin genes per chromosome (so 4 total: αα/αα)
- β-globin gene cluster: chromosome 11 — contains one β-globin gene per chromosome (so 2 total)
- The β-cluster also contains δ, γ (Gγ, Aγ), and ε genes, which are expressed at different developmental stages
This is why α-thalassaemia has a spectrum from silent carrier (1 gene deleted) to hydrops fetalis (all 4 deleted), while β-thalassaemia ranges from trait (1 gene affected) to major (both genes affected).
Three indications: (1) Differential diagnosis of anaemia to ensure proper treatment, (2) Detection of carrier state for genetic counselling, (3) Genotyping in prenatal diagnosis. [1]
High Yield — Why Hb Studies Matter
This is not just about diagnosing sick patients. A huge part of the clinical utility is population screening — detecting carriers who are completely well but whose offspring may be at risk for thalassaemia major or Hb Bart's hydrops fetalis. This is especially important in HK where α-thal carrier rate is ~5% and β-thal carrier rate is ~3%.
α-thalassaemia: ~5% (with 3% having low MCV, ~2% having normal MCV as silent carriers), β-thalassaemia: ~3%, Hb E: ~0.3%. [1]
| Condition | Carrier Frequency in HK Chinese |
|---|---|
| α-thalassaemia (total) | ~5% |
| — with low MCV | ~3% |
| — with normal MCV | ~2% (silent carriers, 1-gene deletion) |
| β-thalassaemia | ~3% |
| Hb E | ~0.3% |
Why this matters: Given these carrier rates, when two carriers marry, there is a 1-in-4 chance of having a child with thalassaemia major (for β-thal) or hydrops fetalis (for α-thal with --SEA deletion). This underpins the rationale for antenatal screening programs in Hong Kong.
Microcytic: Iron deficiency, Thalassaemia. Normocytic: Haemolysis, Anaemia of chronic disease, Renal failure. Macrocytic: Megaloblastic anaemia, Aplastic anaemia, Myelodysplasia, Liver disease. [1]
| MCV Category | Causes |
|---|---|
| Microcytic (< 80 fL) | Iron deficiency anaemia (IDA), Thalassaemia |
| Normocytic (80–100 fL) | Haemolysis, Anaemia of chronic disease, Renal failure |
| Macrocytic (> 100 fL) | Megaloblastic anaemia (B12/folate deficiency), Aplastic anaemia, Myelodysplasia, Liver disease |
Exam Trap
Thalassaemia trait causes microcytosis but often with normal or only mildly reduced Hb. The MCV is the trigger for investigation, NOT the Hb level. Students commonly make the mistake of dismissing thalassaemia because the Hb is "not that low."
Distinguishing Thalassaemia Trait from Iron Deficiency Anaemia
This is one of the most commonly tested distinctions in HKUMed exams.
Key discriminators: In thalassaemia trait, Hb is normal or slightly low, RBC count is HIGH, MCV and MCH are low, and RDW is normal or slightly high. In IDA, Hb can be very low, RBC count is LOW, MCV and MCH are low, and RDW is very high. [1]
| Parameter | Thalassaemia Trait | Iron Deficiency |
|---|---|---|
| Hb | Normal / slightly ↓ | Can be very ↓ |
| RBC count | ↑ (HIGH) | ↓ (LOW) |
| MCV | ↓ | ↓ |
| MCH | ↓ | ↓ |
| RDW | Normal / slightly ↑ | Very ↑ (HIGH) |
High Yield — The RBC Count and RDW Are the Discriminators
In thalassaemia trait, the RBC count is characteristically elevated (or at least normal) because the bone marrow is making lots of small red cells to compensate. The RDW is normal because all the cells are uniformly small. In IDA, the RBC count is low and the RDW is high because there is a mix of normal-sized and microcytic cells (anisocytosis). [1]
This is exactly the type of data interpretation question you will see on the exam — a table of CBC values and you must pick thalassaemia trait vs IDA.
Why the RBC count differs:
- In thalassaemia trait, the erythropoietic drive is intact and bone marrow is healthy — it produces many small red cells → high RBC count
- In IDA, the raw material (iron) is missing → the marrow cannot produce enough red cells at all → low RBC count
Why the RDW differs:
- In thalassaemia trait, all red cells are uniformly small (homogeneous microcytosis) → normal RDW
- In IDA, iron becomes progressively depleted, so earlier cells may be normal size while newer cells are microcytic → mixed population → high RDW (anisocytosis)
When both are severe, the CBC parameters become indistinguishable — both can have very low Hb, low RBC, low MCV, low MCH, and very high RDW. [1]
| Parameter | Severe Thalassaemia | Severe IDA |
|---|---|---|
| Hb | Can be very ↓ | Can be very ↓ |
| RBC | ↓ | ↓ |
| MCV | ↓ | ↓ |
| MCH | ↓ | ↓ |
| RDW | Can be very ↑ | Can be very ↑ |
Key point: When both are severe, you CANNOT distinguish them by CBC alone — you need haemoglobin studies (HPLC/electrophoresis) and iron studies. The peripheral blood smear also helps, as severe thalassaemia shows target cells, nucleated RBCs, and marked anisopoikilocytosis.
IDA blood smear: pencil cells (elliptocytes), hypochromic microcytes with central pallor. β-thalassaemia trait: target cells, microcytes with relatively uniform size. Thalassaemia major: marked anisopoikilocytosis, target cells, nucleated RBCs, basophilic stippling. [1]
Laboratory Triggers for Investigation
Trigger: Low MCV ± clinical features (pallor, splenomegaly, failure to thrive). [1]
The low MCV is the entry point into the diagnostic algorithm. Clinical features are supportive but not always present (carriers are usually asymptomatic).
Triggers: Clinical features (pallor, jaundice, splenomegaly for haemolysis; plethora for erythrocytosis; cyanosis for metHb/low SaO₂) + Laboratory findings (haemolysis markers, erythrocytosis, low oxygen saturation). [1]
Why the triggers differ: Thalassaemias cause a quantitative reduction in globin chains (less of a normal chain), so the main finding is microcytosis. Haemoglobinopathies cause a qualitative abnormality (structurally abnormal chain), so the clinical features depend on what property of the Hb is altered (solubility → sickling, stability → haemolysis, O₂ affinity → polycythaemia or cyanosis).
Pathophysiology of Thalassaemia: Globin Chain Imbalance
Thalassaemia = globin chain imbalance. In α-thalassaemia, there is excess β chain. In β-thalassaemia, there is excess α chain. The unpaired chains precipitate and damage red cells. [1]
When α-globin production is reduced:
- β chains are made normally but have no α partners
- Excess β chains form β₄ tetramers = Hb H [1]
- Hb H is functionally useless (very high O₂ affinity, doesn't release O₂ to tissues) and unstable (precipitates as inclusion bodies)
- In neonates, excess γ chains form γ₄ tetramers = Hb Bart's [1]
Detection of Hb H (β₄):
Supravital staining: Hb H inclusion bodies appear as multiple pale blue-green dots ("golf-ball" appearance) in red cells. In α-thal trait, only rare cells have inclusions. In Hb H disease (α-thal intermedia), many cells show inclusions. [1]
Newer method — Detection of Hb Bart's (γ₄):
Immunochromatographic (IC) strip test for Hb Bart's (γ₄) — a rapid, point-of-care test used in neonatal screening. [1]
High Yield — Lab Methods for α-Thalassaemia
α-thalassaemia CANNOT be diagnosed by HPLC/electrophoresis in adults (because Hb H is unstable and may not show up reliably, and Hb A₂ is normal or low). You need supravital staining (for Hb H inclusions) or IC strip test (for Hb Bart's in neonates), or molecular analysis for definitive diagnosis.
In β-thalassaemia, reduced β chain production leads to increased δ and γ chain production, resulting in increased Hb A₂ (α₂δ₂) and increased Hb F (α₂γ₂). [1]
This is why:
- Hb A₂ > 3.5% is the diagnostic hallmark of β-thalassaemia trait
- Hb F is elevated in β-thalassaemia intermedia and major (can be 20–90%)
How we measure Hb A₂ and Hb F:
High Performance Liquid Chromatography (HPLC) and Capillary Electrophoresis — both separate haemoglobin fractions and quantify them precisely. [1]
Diagnostic approach: Patient Sample → MCV Screening → If low MCV → Supravital Staining/IC Strip Test for α-thal, HPLC/Capillary Electrophoresis for β-thal → Molecular analysis for exact mutation when indicated. [1]
High Yield — The Screening Test
The 2022 MCQ Q12 asked: "What is the MOST USEFUL screening test for thalassaemia in the antenatal period?" The answer is MCV — not Hb level, not family history, not Hb pattern study. MCV is the first-line screening test because it is cheap, universally available, and reliably flags both α and β-thal carriers who need further workup. [2]
Laboratory Diagnosis of Haemoglobinopathy
A haemoglobinopathy is a qualitative defect in the globin chain — a structural variant where one or more amino acids are substituted, causing a change in the protein's properties. This is distinct from thalassaemia (quantitative defect — reduced production of a normal chain), though some variants (like Hb E and Hb Constant Spring) straddle both categories.
Hb E (β26 Glu→Lys): reduced production due to creation of a new alternative splice site, normal oxygen affinity, mildly unstable. This is a "thalassaemic haemoglobinopathy" — it acts partly like a thalassaemia (reduced output) and partly like a variant (structural change). [1]
Hb Constant Spring (α₂ codon 142, Stop→Gln): markedly reduced production due to unstable mRNA. The stop codon mutation extends the α-chain by 31 amino acids, creating an elongated, unstable mRNA that is rapidly degraded. [1]
| Variant | Mutation | Key Feature |
|---|---|---|
| Hb E | β26 Glu→Lys | Alternative splice site → ↓ production; mildly unstable |
| Hb Constant Spring | α2 Stop→Gln at codon 142 | Extended α-chain → unstable mRNA → markedly ↓ production |
Clinical relevance of Hb E: Homozygous Hb E causes mild anaemia (acts like β-thal trait). But Hb E/β-thalassaemia compound heterozygotes can have severe, transfusion-dependent thalassaemia — this is very common in Southeast Asia and is a classic exam scenario.
Hb variants can have changes in: (1) Overall charge, (2) Solubility, (3) Stability, (4) Oxygen affinity. Some variants have changes in multiple properties. [1]
| Property Changed | Clinical Effect | Detection Method |
|---|---|---|
| Charge | Altered electrophoretic mobility | HPLC, Capillary Electrophoresis, Gel Electrophoresis |
| Solubility | Sickling (Hb S) | Hb S solubility test, Blood smear (sickle cells) |
| Stability | Haemolysis, Heinz bodies | Heat stability test, Isopropanol stability test, Blood smear (irregularly contracted cells, Heinz bodies) |
| O₂ Affinity | Polycythaemia (↑ affinity) or Cyanosis (↓ affinity) | P50 calculation from blood gas, O₂ saturation study |
Detection of Specific Variant Types
HPLC and Capillary Electrophoresis separate Hb variants by charge — they are the workhorse methods for detecting most common variants including Hb S, C, E, D, and others. [1]
Both methods produce chromatograms/electropherograms showing peaks at characteristic retention times/positions. An abnormal peak is flagged and its percentage quantified.
Hb S (sickle haemoglobin): β6 Glu→Val. Deoxygenated Hb S polymerizes and is insoluble. Detection: (1) Peripheral blood smear showing sickle cells, (2) Hb S solubility test (turbid = positive), (3) HPLC/Electrophoresis for confirmation and quantification. [1]
The Hb S solubility test is based on the principle that reduced (deoxygenated) Hb S is insoluble — when mixed with a reducing agent (sodium dithionite), the solution becomes turbid. Normal Hb remains in solution.
Unstable haemoglobins precipitate within the red cell, forming Heinz bodies. Detected by: (1) Blood smear showing irregularly contracted cells and Heinz bodies (with supravital stain), (2) Heat stability test (precipitation at 50°C), (3) Isopropanol stability test (precipitation in isopropanol solution). [1]
Why cells are "irregularly contracted": The precipitated Hb (Heinz bodies) is removed by the spleen, taking some membrane with it → cell shrinks unevenly → irregularly contracted cells.
High O₂ affinity Hb variants → left-shifted O₂ dissociation curve → tissue hypoxia → compensatory erythrocytosis (polycythaemia). Low O₂ affinity variants → right-shifted curve → cyanosis. Detected by P50 calculation from blood gas PO₂ and co-oximetry SO₂. [1]
P50 is the PO₂ at which Hb is 50% saturated. Normal P50 ≈ 26.6 mmHg.
- ↑ O₂ affinity: P50 < 26.6 → erythrocytosis
- ↓ O₂ affinity: P50 > 26.6 → cyanosis but adequate tissue O₂ delivery
Approach: Patient Sample → Peripheral Blood Smear → HPLC/Capillary Electrophoresis → If needed: Gel Electrophoresis, Hb Solubility Test, Hb Stability Test, O₂ Saturation Study → Molecular Analysis for confirmation. [1]
| Step | Test | What It Detects |
|---|---|---|
| 1 | Peripheral blood smear | Morphological clues: sickle cells, target cells, irregularly contracted cells, Heinz bodies |
| 2 | HPLC / Capillary Electrophoresis | Abnormal Hb peaks; quantifies Hb fractions |
| 3a | Gel Electrophoresis | Further characterization of variant charge |
| 3b | Hb Solubility test | Hb S specifically |
| 3c | Hb Stability test (heat/isopropanol) | Unstable Hb variants |
| 3d | O₂ Saturation study | High/low O₂ affinity variants |
| 4 | Molecular analysis | Definitive identification of the exact mutation |
Molecular Studies of Globin Diseases
Indications for molecular study: (1) Atypical phenotypes where lab findings don't match expectations, (2) Confirmation of the identity of an Hb variant, (3) Prenatal diagnosis. [1]
α-thalassaemia: (--SEA) deletion accounts for ~90% of cases in HK Chinese. β-thalassaemia point mutations: codons 41-42 (-CTTT) β⁰ = 46%, IVSII-654 (C→T) β⁰ = 28%, nt -28 (A→G) β⁺ = 13%, codon 17 (A→T) β⁰ = 6%. [1]
| Gene | Mutation | Type | Frequency in HK |
|---|---|---|---|
| α-thal | (--SEA) deletion | Large deletion | ~90% |
| β-thal | Codons 41-42 (-CTTT) | β⁰ | 46% |
| IVSII-654 (C→T) | β⁰ | 28% | |
| nt -28 (A→G) | β⁺ | 13% | |
| Codon 17 (A→T) | β⁰ | 6% |
High Yield — (--SEA) Deletion
The Southeast Asian deletion (--SEA) removes both α genes on one chromosome 16. A carrier (--SEA/αα) has α-thal trait (2 functional genes → low MCV, mild anaemia). If TWO carriers mate, there is a 25% chance of having a child with NO α genes (--SEA/--SEA) → Hb Bart's hydrops fetalis → incompatible with life. This is the most important reason for antenatal screening in the HK/Southeast Asian population.
β⁰ vs β⁺ thalassaemia:
- β⁰: No β-globin production at all from that allele (complete loss)
- β⁺: Reduced but not absent β-globin production
- Compound heterozygotes (β⁰/β⁺) tend to have thalassaemia intermedia; homozygous β⁰/β⁰ have thalassaemia major
Quick PCR-based methods for common mutations (gap-PCR for deletions, ARMS-PCR for point mutations). Direct nucleotide sequencing for uncommon or novel mutations. [1]
Methods: (1) Preimplantation genetic diagnosis (PGD), (2) Chorionic villous biopsy (CVS) — typically at 10-12 weeks, (3) Amniocentesis — typically at 15-18 weeks, (4) Fetal DNA in maternal plasma — non-invasive prenatal testing (NIPT). [1]
| Method | Timing | Invasiveness | Notes |
|---|---|---|---|
| PGD | Pre-implantation (IVF) | Invasive (requires IVF) | Tests embryos before transfer |
| CVS | 10–12 weeks | Invasive (1% miscarriage risk) | Earlier than amniocentesis |
| Amniocentesis | 15–18 weeks | Invasive | Later but well-established |
| Fetal DNA in maternal plasma | ≥10 weeks | Non-invasive | Pioneered at CUHK (Prof Dennis Lo); rapidly becoming standard |
HKU/Hong Kong Connection
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma was pioneered in Hong Kong. This is a potential exam talking point — the principle is that during pregnancy, small fragments of fetal DNA circulate in maternal blood, and these can be analysed for the paternal mutation without any invasive procedure.
Overall approach: Patient Sample → MCV + Smear examination → Supravital staining (for α-thal), HPLC/Capillary Electrophoresis (for β-thal and Hb variants) → Electrophoresis + Special tests (solubility, stability, O₂ affinity) for haemoglobinopathy → Molecular Analysis for exact mutation identification (special indications including prenatal diagnosis). [1]
Integration with Related Lectures
File 1 covers the clinical management of thalassaemia — transfusion-dependent thalassaemia (TDT), iron chelation, splenectomy, and haematopoietic stem cell transplantation. Key clinical points that connect:
- Thalassaemia intermedia or trait: (1) DDx of hypochromic microcytic anaemia, (2) DDx of mild splenomegaly, (3) Increased ferritin in some cases, (4) Family screening needed when one member diagnosed, (5) Prenatal diagnosis for at-risk couples, (6) If anaemia more severe than expected from thalassaemia → investigate other causes. [3]
A 30-year-old transfusion-dependent thalassaemia patient with decompensated heart failure and EF 15% with poor medication compliance → Most likely cause: Haemochromatosis (answer B). [4]
This connects iron overload from repeated transfusions → haemochromatosis → dilated cardiomyopathy. Iron chelation therapy (deferoxamine SC, deferiprone PO, deferasirox PO) is the treatment — his poor compliance explains the cardiac iron overload. [5]
32-year-old woman, pale, no jaundice/hepatosplenomegaly. Hb 7.7, MCV 99, WBC 2.8, Plt 70. Most likely diagnosis: Aplastic anaemia (answer A — pancytopenia with macrocytosis, no hepatosplenomegaly). [6]
This tests the MCV-based classification. Thalassaemia intermedia would have LOW MCV (microcytic), not macrocytic. IDA would also be microcytic. Pernicious anaemia could be macrocytic but usually doesn't cause pancytopenia (more isolated anaemia ± mild leukopenia).
Exam Intelligence
- Data interpretation: Given a CBC table → distinguish thalassaemia trait from IDA
- Best screening test: MCV is the answer for thalassaemia screening (not Hb, not FHx, not Hb pattern study)
- Lab diagnostic algorithm: Given a clinical scenario → which test next?
- Hb composition: What are normal adult Hb proportions? What changes in β-thal?
- Genetic counselling scenario: Two carriers → risk of affected child → prenatal diagnosis options
- Iron overload complication: Transfusion-dependent thalassaemia patient with heart failure → haemochromatosis
| Trap | Correct Understanding |
|---|---|
| "Hb pattern study is the screening test for thalassaemia" | MCV is the screening test; Hb pattern study (HPLC) is the confirmatory test |
| "All thalassaemia carriers have low MCV" | Silent α-thal carriers (1-gene deletion) have NORMAL MCV |
| "HPLC diagnoses α-thalassaemia" | HPLC diagnoses β-thal (raised Hb A₂). α-thal needs supravital staining or molecular analysis |
| "High RDW = thalassaemia" | High RDW suggests IDA or severe thal. Thal TRAIT has normal RDW |
| "RBC count is low in thalassaemia trait" | RBC count is HIGH in thal trait — that's the discriminator from IDA |
Q1: SAQ-style. A 28-year-old pregnant woman at booking visit has MCV 68 fL. Outline your approach to further investigation.
Markscheme: Check iron studies to exclude IDA. If iron replete → suspect thalassaemia. Perform Hb pattern study (HPLC/capillary electrophoresis) for β-thal (look for Hb A₂ > 3.5%). Perform supravital staining or IC strip test for α-thal. If positive → screen partner. If both carriers → genetic counselling and offer prenatal diagnosis (CVS at 10-12 weeks or amniocentesis or NIPT).
Q2: MCQ-style. Which is the most useful screening test for thalassaemia in the antenatal period? (A) Family history (B) Hb level (C) Hb pattern study (D) MCV → Answer: D [2]
Q3: SAQ-style. Explain why Hb A₂ is elevated in β-thalassaemia trait.
Markscheme: In β-thal trait, β-chain production is reduced. Compensatory increase in δ-chain production occurs. Since Hb A₂ = α₂δ₂, more δ chains pair with available α chains → increased Hb A₂ proportion (typically > 3.5%).
Q4: MCQ-style. A 30-year-old transfusion-dependent thalassaemia patient presents with heart failure (EF 15%) and has been poorly compliant with medication. Most likely cause? → Haemochromatosis [4]
Q5: Data interpretation. Distinguish thalassaemia trait from IDA given CBC parameters — focus on RBC count (high in thal trait, low in IDA) and RDW (normal in thal trait, high in IDA).
Q6: SAQ-style. Name two laboratory methods used to detect α-thalassaemia and explain the principle of each.
Markscheme: (1) Supravital staining — detects Hb H (β₄) inclusion bodies in red cells; principle is that the unstable β₄ tetramers precipitate and stain with brilliant cresyl blue. (2) IC strip test — detects Hb Bart's (γ₄) using immunochromatography with anti-Hb Bart's antibodies; used in neonatal screening.
High Yield Summary
Thalassaemia diagnosis: MCV screening → Supravital staining/IC strip test (α-thal) or HPLC/Capillary Electrophoresis (β-thal, showing ↑Hb A₂ > 3.5% ± ↑Hb F) → Molecular analysis for exact mutation.
Haemoglobinopathy diagnosis: Blood smear + HPLC/CE → Special tests based on the property altered (solubility test for Hb S, stability test for unstable Hb, O₂ saturation study for altered O₂ affinity) → Molecular analysis for confirmation.
Thal trait vs IDA: RBC count HIGH and RDW normal in thal trait; RBC count LOW and RDW HIGH in IDA.
HK Chinese epidemiology: α-thal 5%, β-thal 3%, Hb E 0.3%. Most common α-thal mutation = (--SEA) deletion (90%). Most common β-thal mutation = codons 41-42 (-CTTT) β⁰ (46%).
Normal adult Hb: Hb A (α₂β₂) > 95%, Hb A₂ (α₂δ₂) 1-3%, Hb F (α₂γ₂) < 1%.
Prenatal diagnosis options: PGD, CVS, amniocentesis, fetal DNA in maternal plasma (NIPT).
Active Recall - Lecture Notes
[1] Lecture slides: GC 097. Many members of the family have anaemia (File 2).pdf (all pages) [2] Past papers: 2022 Fourth Summative MCQ.pdf (Question 12) [3] Lecture slides: GC 097. Many members of the family have anaemia (File 1).pdf (p12); GC 097. Many members of the family have anaemia (MED).pdf (p12) [4] Past papers: 2021 Fourth Summative Assessment MCQ.pdf (Question 28) [5] Senior notes: Maksim Medicine Notes.pdf (p159 — Haemochromatosis section) [6] Past papers: 2020 Fourth Summative Assessment MCQ paper.pdf (Question 30)
GC097 Many Members Of The Family Have Anaemia (file 1)
A clinical scenario in which multiple family members present with anaemia, suggesting an inherited haemoglobinopathy or hereditary red blood cell disorder such as thalassaemia, sickle cell disease, or hereditary spherocytosis.
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.