Haematology
Placing genetics at the core of medical decisions
Haematological genetic testing is routinely indicated to elucidate the underlying molecular aetiology of hereditary disorders affecting erythrocytes, haemostasis, and bone marrow function. It serves as a decisive diagnostic tool when standard methods like complete blood counts, blood film morphology, and functional coagulation assays yield inconclusive results. A molecular diagnosis may support disease classification, guide clinical management, facilitate genetic counselling, and enable testing of at-risk family members. The clinical spectrum of hereditary, non-malignant hematologic disorders can be broadly divided into five main diagnostic categories:
- Haemoglobin disorders: This category encompasses structural haemoglobin variants (e.g., ) and synthesis defects ( and ). Molecular genetic testing identifies causative variants, enables carrier screening, and elucidates complex combinations of variants that cannot be distinguished using first-line electrophoretic or chromatographic tests.
- Inherited red cell anemias: Includes erythrocyte membrane defects (e.g., ), enzymopathies, and haeme synthesis disorders (e.g., ). Next-generation sequencing (NGS) gene panels represent the gold-standard approach for diagnosing these heterogeneous phenotypes.
- Inherited bleeding & platelet disorders: Covers coagulation factor deficiencies ( and , rare factor deficiencies), , and inherited functional or structural platelet defects.
- Heritable thrombophilias: Comprises genetic defects that predispose to hypercoagulability and venous thromboembolism (e.g., , , and natural anticoagulant deficiencies), representing the functional opposite of bleeding disorders.
- Inherited : Involves germline mutations leading to primary haematopoietic stem cell collapse and multi-lineage cytopenias (e.g., Fanconi anaemia, Diamond-Blackfan anaemia, and dyskeratosis congenita).
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