Anaemia case studies Feb 2026

​Anaemia: clinical case studies

Feb 2026
L. Lemkus

Learning objectives

• These following cases illustrate different anaemia scenarios, types of anaemia and highlights practical and theoretical aspects that are considered important.

• The practical is structured in such a way that the questions should prompt you to think about these important issues.

Theory preparation that provides the background knowledge for the case studies practical:

• Lecture: Red cell physiology

• Lecture: Anaemia

• Lecture: Haemolytic anaemia

• Hofbrand, A.V., Moss, P.A. etc al. Essential Haematology, 6th Edition, Chapters 2 – 6 inclusive.

• Haematology E-Reader

Multiple Choice

Based on the case history and the full blood count, what type of anaemia is most likely present in James Hutchins?

• Normocytic normochromic anaemia

• Microcytic hypochromic anaemia

• Macrocytic anaemia

• Normocytic hypochromic anaemia

Fill in the Blank

Reticulocyte count provides an indication of the ___ response to anaemia.

Multiple Choice

What is the significance of a low reticulocyte count in the context of anaemia?

• It indicates increased red cell destruction

• It suggests a bone marrow production problem

• It means the anaemia is resolving

• It is a sign of acute blood loss

Word Cloud

What are the possible causes for anaemia with these red cell parameters?

Multiple Choice

Which is the most common cause of anaemia among the following?

• Sideroblastic anaemia

• Iron deficiency

• Thalassaemia

• Anaemia of chronic disease

Multiple Choice

Which laboratory parameter is most likely to be decreased in both iron deficiency anaemia and anaemia of chronic disease?

• Serum iron

• Transferrin

• % saturation

• Ferritin

Fill in the Blank

What laboratory test helps differentiate iron deficiency anaemia from thalassaemia and anaemia of chronic disease?

Multiple Choice

The reticulocyte count can be used to monitor response to treatment?

• True

• False

Multiple Choice

Which of the following are important steps in investigating the underlying cause of an iron deficiency anaemia?

• Establish underlying cause and treat appropriately

• Assume anaemia is the diagnosis

• Ignore patient history

• Treat only with iron supplements

Fill in the Blank

A 9 month old baby presents with pallor and splenomegaly. What initial laboratory investigations should be requested?

Multiple Choice

What is the likely diagnosis in this case?

• Sideroblastic anaemia

• Iron deficiency

• Thalassaemia

• Anaemia of chronic disease

• Lead poisoning

Open Ended

Explain why thalassaemia must be considered in the diagnosis of hypochromic microcytic anaemia in infants.

Thalassaemia must be considered

• Age of the patient (have to consider an inherited cause)

• The baby is on formula which is often supplemented with iron, therefore iron deficiency is unlikely.

• Although the indices are low, the peripheral blood morphology is not consistent with iron deficiency of this severity.

• The presence of numerous target cells suggests an abnormality of haemoglobin and thalassaemia is the most likely cause in this case.

• A family history is essential. This is a family of Greek origin so they come from a geographical area where thalassaemia is common.

• Questions regarding consanguinity are also important to ask.

Multiple Choice

What test is used to diagnose haemoglobinopathies such as thalassaemia?

• Protein electrophoresis

• Flow cytometry

• Haemoglobin electrophoresis

• Differential count

Fill in the Blank

In β thalassaemia major, there is absent or minimal synthesis of the ___ chain of haemoglobin.

Multiple Select

Which features help differentiate iron deficiency anaemia from thalassaemia major on a blood smear?

• Numerous target cells

• Pencil cells

• Nucleated red cells

• Basophilic stippling

​Why does beta thalassaemia not present at birth?

• This is because of the sequence of development of the Hb molecule. 

• In utero, fetal haemoglobin (HbF) predominates: this is a tetramer of 2α and 2γ chains. 

• After birth there is a gradual transition to adult haemoglobin (HbA) synthesis (2α2ꞵ) and this is complete by three months. 

• The beta thalassaemia syndromes are due to abnormalities in the ꞵ chain of Hb and therefore only present when HbA is the predominant Hb.

• The α chains are present in both fetal and adult Hb and therefore alpha thalassaemia syndromes will present at birth.

Multiple Choice

How would you classify this anaemia?

• microcytic hypochromic

• normocytic normochromic

• macrocytic anaemia

• macrocytic hypochromic

Multiple Choice

Given the classification of the anaemia and morphological features, what is the most likely cause?

• megaloblastic anaemia

• haemolytic anaemia

• iron deficiency

• hypothryroidism

Open Ended

Why is this patient jaundiced?

​Did you notice her neutrophil count and platelet counts were low?

This is called a pancytopenia

Pancytopenia

The underlying defect in megaloblastic anaemia is impaired DNA synthesis

This will affect the developing white cells and megakaryocytes (platelets) as well as the red cells resulting in a pancytopenia

Open Ended

What causes of a pancytopenia do you know?

Multiple Choice

How would you confirm the suspected diagnosis in this patient?

• Vitamin B12 and folate levels

• Haemolytic screen

• Iron studies

• Reitculocyte count

Multiple Choice

Agnes has confirmed vitamin B12 deficiency (megaloblastic anaemia). What is the most likely cause in her case?

• Reduced dietary intake

• Reduced absorption from gut (pernicious anaemia)

• Side effect of medication

• Primary bone marrow pathology

Open Ended

How should Agnes be treated? What laboratory test will you use to monitor her response to treatment?

​How should agnes be treated?

Give IMI vitamin B12 (such as hydroxocobalamin)

Note that lifelong supplementation is needed in pernicious anaemia, and IMI injections are required every month / 2 months depending on which drug you use

​How should her treatment be monitored?

• Patients symptoms generally feel better within 1-2 days

• Haemolysis markers – day 1 to 2

• Reticulocytosis – day 3 to 4

• Anaemia – week 1 to 2 (initial improvement) and week 4 to 8 (normalisation)

• Hypersegmented neutrophils – day 10 to 14

• Leukopaenia and/or thrombocytopaenia – week 2 to 4

Case 4

Beauty Malotsane attended the local clinic because she had noticed her eyes becoming yellow over the last few days.

• The doctor examined Beauty and furthermore noticed pallor and a tachycardia.

• The combination of jaundice (yellow) and pallor suggested a haemolytic anaemia and she performed a finger prick haemoglobin which showed a level of 5 g/dl.

Multiple Choice

Classify her anaemia.

• Microcytic hypochromic

• Macrocytic

• Normocytic normochromic

• Normocytic hypochromic

Open Ended

Which laboratory tests do we use to confirm haemolysis?

CAUSES OF A SPHEROCYTOSIS

Autoimmune haemolytic anaemia (AIHA)

• This is the most common cause of spherocytic anaemia in adults and must always be considered 

Hereditary spherocytosis

• This may present for the first time in adulthood even though it is an hereditary abnormality

Clostridium infection

• Unlikely in a well patient

Fill in the Blank

What laboratory test should you order next?

Patient
results

** It is not adequate to just make the diagnosis of a Coombs positive AIHA - the underlying condition must be looked for since the AIHA will not improve unless the underlying condition is treated.

Causes of a warm-AIHA

Autoimmune diseases:

• Systemic lupus erythematosus

• Rheumatoid arthritis

• Lymphoproliferative conditions

• Chronic lymphocytic leukaemia

Lymphoma

Drugs

Open Ended

What is the most likely diagnosis in this case?

(HbAS)

Multiple Choice

If this patient has children with a woman with sickle cell trait, what is the risk of having a child with sickle cell disease (HbSS)?

• 100%

• 0%

• 50%

• 25%

Mendelian genetics

​Dad: HbSS (sickle cell disease)
Mom: HbAS (sickle cell trait)

​	​Dad: S	​Dad: S
​Mom: A	​AS	​AS
​Mom: S	​SS	​SS

​Therefore 50% chance of sickle cell trait and 50% chance of sickle cell anaemia because dad can only give sickle gene

Multiple Choice

What is the most likely cause of IVH in this patient?

• ABO incompatibility

• PNH (paraoxysmal nocturnal haemoglobinuria)

• G6PD deficiency

• Red cell fragmentation syndrome

Multiple Choice

G6PD deficiency usually causes haemolysis in female patients

• True

• False

Males (XY):

One abnormal X → affected (haemolysis)

Commonly get haemolysis with oxidative stress (infection, drugs, fava beans, etc.)

Females (XX):

One normal + one abnormal X → usually carriers (no haemolysis)

Due to random X-inactivation (lyonisation), most still have enough normal G6PD activity to protect RBCs

Females can be clinically affected in these situations:

1. Homozygous for G6PD mutation (rare, but possible in high-prevalence populations)

2. Skewed X-inactivation → most RBCs express the deficient X

3. Compound heterozygotes (two different G6PD variants)

4. Very strong oxidative stress (severe infection, potent oxidant drugs)

G6PD deficiency is X-linked recessive

​coombs negative, spherocytes on peripheral film, child...

​*Nice to know*

Take home message

Common things occur commonly!!

Know iron deficiency and megaloblastic anaemia in depth.

The common causes and confirmatory investigations for haemolytic anaemia are essential knowledge.