TRANSFUSION SCIENCE
Appropriate blood provision for sickle cell disease patients in Northern Ireland
The appropriate selection of blood for transfusion in the ongoing treatment of patients with sickle cell disease is of vital importance. Here, Hannah Caldwell examines the role of sickle solubility testing and molecular genotyping in the care of SCD patients in Northern Ireland.
Sickle cell disease (SCD) is a group of haemoglobinopathies that contain mutations in the gene encoding the beta subunit of haemoglobin. It is characterised by the presence of sickle haemoglobin. The sickle cell mutation occurs when glutamine is replaced by valine at the sixth position of the β-globin chain resulting in sickle-shaped red blood cells, progressive multi-organ failure and an increase in mortality.1,2
Complications of SCD n Patients with SCD usually have mild
to moderate anaemia (Fig 1). Severe anaemia can be due to aplastic crisis, which is normally caused by an infection with parvovirus B19.
n Acute pain crisis (sickle cell or vaso- occlusive crisis) occurs when sickle cells block the blood flow and causes sharp stabbing pain throughout the body.
n Acute chest syndrome is an extremely common cause of hospital admission in SCD patients, and occurs when RBCs sickle in the blood vessels of the lungs, which can deprive the lungs of oxygen leading to acute lung injury.
Northern Ireland population Data are limited on the number of people living in Northern Ireland (NI) with SCD. Data taken from the most recent census, in 2021, has shown that 3.4% of the population, or 65,600 people, belonged to minority ethnic groups This is around double the 2011 figure (1.8%, 32,400 people) and four times the 2001 figure (0.8%, 14,300 people). With this increase in minority ethnic
groups will come an increase in patients requiring treatment/management at Belfast Health and Social Care Trust (BHSCT) due to SCD; thus, the availability of the proposed sickle solubility testing in addition to molecular genotyping for these patients will positively impact their care.
Red cell genotyping Serological techniques for red cell phenotyping remain the gold standard technique for the majority of cases. Nevertheless, these methods still have numerous technical and clinical limitations that can be difficult to resolve. Dual population results can occur in
Fig 1. Peripheral blood smear showing the presence of sickle-shaped RBCs. 42
red cell phenotyping due to the presence of donor cells in the patient’s blood, and it is impossible to distinguish between donor and patient cells without molecular methods. Therefore, blood group molecular typing is deemed essential in the following cases: n Transfusion-dependent patients due to the persistence of transfused donor cells (eg thalassaemia, haematological malignancies).
APRIL 2024
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