(3)Study group Haem practical

What is the diagnosis when the peripheral blood film shows bite cells and Heinz bodies?

G6PD deficiency.

What are bite cells?

Red blood cells that have lost part of their cytoplasm after splenic removal of Heinz bodies.

What are blister cells?

RBCs with separation of haemoglobin from the cell membrane, seen in G6PD deficiency.

Which inclusion bodies are characteristic of G6PD deficiency?

Heinz bodies.

What is one differential diagnosis of bite cells?

Warm autoimmune haemolytic anaemia.

What is the cornerstone of treatment for G6PD deficiency?

Avoidance of oxidative triggers.

What should be done immediately when oxidative haemolysis occurs in G6PD deficiency?

Stop the offending agent.

What supportive measures are given during acute haemolysis in G6PD deficiency?

Hydration and oxygen therapy.

When are blood transfusions indicated in G6PD deficiency?

Severe haemolysis.

What infection-related management is important in G6PD deficiency?

Treat underlying infections promptly.

What treatment is used for severe neonatal jaundice due to G6PD deficiency?

Exchange transfusion.

Which vitamin supplement is recommended in chronic haemolysis due to G6PD deficiency?

Folic acid.

Which antimalarial drug should be avoided in G6PD deficiency?

Primaquine.

Which sulfonamide commonly precipitates haemolysis in G6PD deficiency?

Sulfamethoxazole.

Which urinary analgesic should be avoided in G6PD deficiency?

Phenazopyridine.

Which dye used in methaemoglobinaemia is contraindicated in G6PD deficiency?

Methylene blue.

Which red cell shape is the hallmark of primary myelofibrosis?

Dacrocytes (tear-drop cells).

What is a dacrocyte?

A tear-drop shaped red blood cell.

What is the hallmark peripheral blood finding in primary myelofibrosis?

Leukoerythroblastic blood picture with dacrocytes.

What immature myeloid cells are seen in primary myelofibrosis?

Myelocytes and metamyelocytes.

Which immature erythroid cells circulate in primary myelofibrosis?

Nucleated red blood cells (normoblasts).

What does anisopoikilocytosis mean?

Variation in red cell size and shape.

What does polychromasia indicate?

Increased reticulocytes from stress erythropoiesis.

Which platelet abnormality is seen in primary myelofibrosis?

Giant abnormal platelets.

Which granulocytes may be increased in primary myelofibrosis?

Basophils and eosinophils.

What does the presence of circulating blasts suggest in primary myelofibrosis?

Late-stage disease or leukemic transformation.

What is the commonest haematological complication of primary myelofibrosis?

Progressive anaemia.

What is the commonest organ enlargement in primary myelofibrosis?

Splenomegaly.

Into which acute leukaemia can primary myelofibrosis transform?

Acute myeloid leukaemia (AML).

What is a "dry tap" during bone marrow aspiration?

Failure to aspirate marrow because of fibrosis.

Which fibres are markedly increased in primary myelofibrosis?

Reticulin and collagen fibres.

What is the diagnosis when there is marked thrombocytosis with giant platelets?

Essential thrombocythaemia (ET).

What is the first-line cytoreductive drug for essential thrombocythaemia?

Hydroxyurea.

Which drug specifically reduces platelet production in ET?

Anagrelide.

Which antiplatelet drug is commonly prescribed in ET?

Low-dose aspirin.

Which interferon is used in ET?

Interferon-alpha.

What is the hallmark CBC finding in ET?

Marked thrombocytosis.

Which platelet abnormality is characteristic of ET?

Giant platelets.

Which bone marrow cell lineage is markedly increased in ET?

Megakaryocytes.

Describe the nuclei of megakaryocytes in ET.

Hyperlobulated (staghorn-like).

What is the commonest complication of ET?

Thrombosis.

What paradoxical complication may occur despite high platelet counts in ET?

Haemorrhage.

Which mutation is most common in ET?

JAK2 V617F mutation.

Which two other mutations are associated with ET?

CALR and MPL mutations.

What platelet count is required for the diagnosis of ET?

≥450 × 10⁹/L.

Which imaging investigation assesses splenomegaly in ET?

Abdominal ultrasound.

Which blood parasite is seen inside red blood cells as trophozoites?

Plasmodium species (malaria parasite).

Which malaria species is identified in the slide?

Plasmodium falciparum.

What is the diagnosis when sickle-shaped red cells are seen on the blood film?

Sickle cell disease.

Which novel drug increases oxygen affinity of HbS?

Voxelotor.

Which monoclonal antibody reduces vaso-occlusive crises in sickle cell disease?

Crizanlizumab.

What is the brand name of Voxelotor?

Oxbryta.

What is the brand name of Crizanlizumab?

Adakveo.

Define sickle cell anaemia.

An inherited haemoglobinopathy caused by homozygous HbS mutation resulting in sickling of RBCs during deoxygenation.

Which amino acid substitution causes sickle cell disease?

Valine replaces glutamic acid at position 6 of the β-globin chain.

On which chromosome is the β-globin gene located?

Chromosome 11.

Which mutation causes sickle cell disease?

GAG → GTG point mutation.

Name the Benin haplotype of sickle cell disease.

Benin haplotype.

Name the Central African haplotype of sickle cell disease.

Bantu (Central African Republic) haplotype.

Name another major sickle cell haplotype.

Senegal haplotype.

Which sickle cell haplotype is common in India and the Arabian Peninsula?

Arab-Indian haplotype.

Which sickle cell haplotype is found in Cameroon?

Cameroon haplotype.

Which laboratory test uses sodium metabisulphite in sickle cell disease?

Sickling test.

Which investigation is the gold standard for confirming sickle cell disease?

Haemoglobin electrophoresis or HPLC.

What blood film finding suggests functional asplenia in sickle cell disease?

Howell–Jolly bodies.

Which red cell morphology is characteristic of sickle cell disease?

Sickle cells.

Which target-like red cells are commonly seen in sickle cell disease?

Target cells.

What is the commonest painful complication of sickle cell disease?

Vaso-occlusive crisis.

Which pulmonary emergency complicates sickle cell disease?

Acute chest syndrome.

Which neurological complication is common in sickle cell disease?

Stroke.

Which bone complication commonly affects the femoral head in sickle cell disease?

Avascular necrosis.

Why are patients with sickle cell disease prone to infections?

Functional asplenia.