Anaemia, Leukaemia, Thalassemia, G6PD

What are the three main types of anaemia?

1. Blood loss 2. Decreased production 3. Increased destruction

Common causes of anaemia due to blood loss

Gastrointestinal bleeding, haemorrhoids, ulcers, menstruation

Causes of decreased RBC production in anaemia

Iron/vitamin deficiency, bone marrow problems, chronic diseases

Causes of increased RBC destruction in anaemia (haemolysis)

Inherited (e.g. thalassemia, sickle cell), infections, drugs, snake venom

Symptoms of anaemia

Fatigue, pallor, dizziness, shortness of breath, rapid heartbeat, headache, leg cramps, insomnia

How is anaemia diagnosed?

Full blood count (↓Hb, ↓Hct, ↓MCV), low ferritin, low serum iron, high TIBC, hypochromic microcytic RBCs

Treatment for anaemia

Iron supplements (with Vitamin C), treat underlying cause, blood transfusion, iron-rich diet

What is leukaemia?

Cancer of blood-forming tissues with excessive abnormal WBCs crowding out normal cells

Causes of leukaemia

Exact cause unknown; genetic mutations + environmental triggers (radiation, benzene, chemo)

Risk factors for leukaemia

Family history, radiation, benzene exposure, previous cancer treatment, Down syndrome

Symptoms of leukaemia

Night sweats, fatigue, infections, bruising, petechiae, weight loss, bone pain, swollen lymph nodes

Diagnosis of leukaemia

Full blood count (blast cells), blood smear (smudge cells), bone marrow biopsy, flow cytometry

Treatment options for leukaemia

Chemotherapy, targeted therapy, immunotherapy, radiotherapy, stem cell transplant, watchful waiting (CLL)

Types of leukaemia by progression

Acute (fast) vs Chronic (slow)

Types of leukaemia by cell line

Myeloid (myelogenous) vs Lymphoid (lymphocytic)

What is thalassaemia?

Inherited disorder with abnormal or reduced haemoglobin production

Alpha thalassaemia types

1 gene: Silent carrier, 2 genes: Minor, 3 genes: HbH disease, 4 genes: Major (hydrops fetalis)

Beta thalassaemia types

1 gene: Minor, 2 genes: Intermedia or Major (Cooley’s anaemia)

Symptoms of thalassaemia

Bone deformities, fatigue, delayed growth, jaundice, hepatosplenomegaly, dark urine

Diagnosis of thalassaemia

Full blood count (microcytic, hypochromic), Hb electrophoresis, target cells, Heinz bodies

Blood smear findings in thalassaemia

Microcytic, hypochromic RBCs, anisocytosis, poikilocytosis, nucleated RBCs, Heinz bodies

Treatment for thalassaemia

Blood transfusions, iron chelation, folic acid, splenectomy, bone marrow transplant

What is G6PD deficiency?

X-linked disorder with deficiency of glucose-6-phosphate dehydrogenase enzyme causing RBC breakdown

Common triggers for G6PD deficiency

Fava beans, infections (hepatitis, typhoid), drugs (NSAIDs, sulfas, antimalarials), aspirin

Symptoms of G6PD deficiency

Hemolytic crisis: dark urine, jaundice, SOB, fatigue, pallor, tachycardia, dizziness

Diagnosis of G6PD deficiency

Fluorescent spot test (no glow = deficient), CBC, reticulocyte count, blood smear with Heinz bodies & bite cells

Blood smear features in G6PD deficiency

Heinz bodies, bite cells, blister cells, reticulocytosis

Treatment of G6PD deficiency

Remove triggers, treat infections, oxygen therapy, blood transfusions if needed

Who is most at risk of G6PD deficiency?

Males, African/Middle Eastern descent, family history

What is a unique feature of CLL on smear?

Smudge cells (basket cells)

What is the main diagnostic test for CLL?

Flow cytometry to identify abnormal B lymphocytes

Complications of CLL

Anaemia, thrombocytopenia, frequent infections, lymphoma, other cancers, autoimmune haemolytic anaemia

Treatment options for CLL

Watchful waiting, chemotherapy, targeted therapy, immunotherapy, stem cell transplant

Why is iron chelation used in thalassaemia?

To remove excess iron from transfusions and prevent organ failure

Name two inherited causes of haemolytic anaemia

Sickle cell anaemia, thalassaemia

What kind of RBCs are seen in iron-deficiency anaemia?

Hypochromic, microcytic

What is a classical symptom of iron deficiency?

Picophagia – craving for ice or clay

Name two diagnostic markers for iron-deficiency anaemia

Low haemoglobin, haematocrit, Low MCV, ferritin, serum iron, iron saturation, High TIBC