Journal of Clinical Haematology

Red cell membrane in patients with haemoglobin H (Hb-H) disease and other haemoglobinopathies is rigid and thus red blood cells are fragmented during passage through narrow capillary beds, especially through the splenic sinusoids and the liver [1,2]. These fragments are frequently seen in peripheral blood films.

This manuscript reviews treatment of Sickle Cell disease over time. The application of allogeneic stem cells proved the sickle cell disease could be permanently corrected and cured but limited to those with a compatible donor.

Treatment of sickle cell disease (SCD) remains varied with only a minority of patients benefiting from stem cell transplant as a near cure. Others await the promise of more effective and less toxic treatments than hydroxyurea, especially children who are most susceptible to the morbidities and mortalities of SCD. The recent report of Hebert, Rakotoson et al. points to an evolution of in vitro diagnostics (IVD) testing of blood cells with the emerging need for cell-by-cell measurement of red blood cell (RBC) specific hemoglobin variant levels. The study further provides clinical validation as to the utility of measuring HbF content in RBCs of SCD patients, not just as a prognostic test, but likely serving as a companion diagnostic in phase 3 clinical trials of new SCD therapies. 

While TCD is an indicator of risk, not a biopsy diagnosis (such as proof of cancer), at some point in the velocity spectrum the high velocity detected by TCD reaches what many believe is an unacceptable risk of stroke.

The inherited haemoglobin disorders, including thalassemias and haemoglobinopathies, are the most common genetic diseases and the clinical laboratory is essential in the diagnosis. Haemoglobinopathies are monogenic disorders in the genes that encode globin chains that can lead to a defective globin production or a variant in the haemoglobin structure.