Haematology (high yield)

Which iron study profile distinguishes Anemia of Chronic Disease (ACD) from uncomplicated Iron Deficiency Anemia (IDA)?

Normal/ high ferritin, low TIBC, normal sTfR

Which biochemical test result specifically confirms Vitamin B12 (cobalamin) deficiency rather than folate deficiency?

MMA

Which diagnostic assay is recommended as the most sensitive and specific first-line test for Hereditary Spherocytosis (HS)?

EMA binding test by flow cytometry

An asymptomatic 29-year-old woman undergoing antenatal screening has the following FBC: Hb 114 g/L, RBC 5.85 × 10¹²/L, MCV 63 fL, MCH 19.5 pg, RDW 13.8%. Peripheral blood film shows microcytosis, target cells, and basophilic stippling. Capillary hemoglobin electrophoresis reveals HbA2 of 5.2% and HbF of 1.8%. What is the diagnosis?

Beta-thalassemia minor

A patient with deletion of three alpha-globin genes (--/-α) presents with moderate microcytic hypochromic anemia (Hb 88 g/L, MCV 66 fL) and splenomegaly. Incubation of fresh blood with 1% brilliant cresyl blue (supravital stain) demonstrates numerous red cells containing fine, evenly distributed blue-green stippling ('golf-ball' inclusions). What do these inclusions represent?

Haemoglobin H

A 65-year-old patient presents with fatigue and pallor (Hb 76 g/L). The blood film shows prominent spherocytes and polychromasia without red cell agglutination. The Direct Antiglobulin Test (DAT) is strongly positive (4+) with anti-IgG and negative with anti-C3d. Which mechanism explains this presentation?

Warm auto-immune haemolytic anaemia

Which diagnostic assay confirms Thrombotic Thrombocytopenic Purpura (TTP)?

ADAMTS13 activity

Which cytochemical and flow cytometric immunophenotype confirms B-cell Acute Lymphoblastic Leukemia (B-ALL)?

MPO negative, Sudan black B negative, TdT +, CD10, 19, 79a

Which flow cytometry immunophenotype (Matutes score 5/5) confirms Chronic Lymphocytic Leukemia (CLL)?

CD 5, 19, 23

Which molecular and immunophenotypic findings confirm Hairy Cell Leukemia (HCL)?

BRAF, TRAP +, CD11, 25, 103, 123

Which finding confirms light-chain clonality by flow cytometry or immunohistochemistry?

Kappa-lambda ratio >10:1, CD38, 56, 138

Which molecular marker confirms Polycythemia Vera (PV)?

JAK 2 mutation

Which genetic mutation is strongly associated with ring sideroblasts (erythroid precursors containing iron granules)

SF3B1

A 10-year-old child with severe mucocutaneous bleeding has a normal platelet count (240 × 10⁹/L) and normal platelet size on the blood film. Light Transmission Aggregometry (LTA) demonstrates absent platelet aggregation in response to ADP, collagen, epinephrine, and arachidonic acid, but normal primary aggregation with ristocetin. Which disorder and membrane glycoprotein defect are present?

Glanzmann Thrombasthenia

An automated FBC analyzer generates the following anomalous red cell parameters on a room-temperature EDTA sample: RBC 1.85 × 10¹²/L, Hb 112 g/L, Hct 0.22 L/L, MCV 119 fL, MCH 60.5 pg, and MCHC 509 g/L (flagged 'H' with 'Turbidity/HGB Interf' or 'RBC Agglutination'). Reviewing the blood film reveals large clumps of red blood cells. What is the correct laboratory procedure to obtain accurate FBC results? Note Hb is normal

Incubate EDTA tube at 37 degrees for 15- 30 mins

A 36-year-old traveler returning from sub-Saharan Africa presents with high spiking fevers and rigors. Thick and thin Giemsa-stained blood films (pH 7.2) demonstrate heavy parasitemia (6.5% of RBCs infected) within normal-sized erythrocytes, frequent multiple ring-form trophozoites per red cell, marginal 'appliqué' (accolé) forms, delicate double-chromatin-dot rings, and crescent/banana-shaped gametocytes. Which Plasmodium species is responsible?

Plasmodium falciparum