Description:

Thalassaemia is a common hereditary haemolytic anaemia. Mild cases of this disease may be asymptomatic, while patients with severe thalassaemias require high-dose blood transfusions and regular iron removal to maintain life or haematopoietic stem cell transplantation to be cured, imposing an enormous familial and social burden. Therefore, early, timely, and accurate screening of patients is of great importance. In recent years, with the continuous development of thalassaemia screening technologies, the accuracy of thalassaemia screening has also improved significantly. This article reviews the current research on thalassaemia screening.   Red Blood Cells (RBCs) samples from healthy volunteers, β-thalassaemia major and β-thalassaemia intermedia patients were studied by means of 57Fe Mössbauer Spectroscopy (MS). The MS spectra from the RBCs of the thalassaemia patients showed the existence of significant amounts of ferritin-like iron, and in particular in the 82% of the β-thalassaemia intermedia ones. Also, β-thalassaemia intermedia patients were found to have higher Liver Iron Concentration (LIC) when compared to the β-thalassaemia major patients, as assessed by MRI exams, even though they had on an average about half the serum ferritin levels. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterised by elastic tissue alterations and caused by mutations in a single gene, ABCC6, on chromosome 16p that includes manifestations that are predominantly cutaneous, ocular and cardiovascular. PXE-like lesions in association with beta-thalassemia have previously been reported in the literature in patients with beta-thalassaemia intermediate and major, being clinically indistinguishable from classic PXE.

The case is presented of a 10-year-old boy with beta-thalassaemia minor and characteristic lesions of PXE. It is worth noting the benefit of multimodal imaging in the diagnosis and monitoring of the lesions. The hearts, kidneys, livers, spleens and brains of 57Fe enriched wild-type and heterozygous β-thalassaemic mice at 1, 3, 6 and 9 months of age were studied by means of Mössbauer Spectroscopy at 80 K. Ferritin-like iron depositions in the heart and the brain of the thalassaemic mice were found to be slightly increased while significant amounts of Ferritin-like iron were found in the kidneys, liver and spleen. The Ferritin-like iron doublet, found in the organs, could be further separated into two sub-doublets representing the inner and surface structures of ferritin’s mineral core. Surface iron sites were found to be predominant in the hearts and brains of all mice and in the kidneys of the wild-type animals. Ferritin rich in inner iron sites was predominant in the kidneys of the thalassaemic mice, as well as in the livers and in the spleens. The inner-to-surface iron sites ratio was elevated in all thalassaemic samples indicating that besides ferritin amount, the disease can also affect ferritin’s mineral core structure. Inherited haemolytic anaemias are caused by a genetic mutation that results in an abnormality within the red cell leading to its early destruction. This abnormality can affect the cell membrane (e.g. hereditary spherocytosis), result from an absence or abnormality of a red cell enzyme (e.g. glucose-6-phosphate dehydrogenase deficiency) or affect haemoglobin, leading to a haemoglobinopathy such as sickle cell disease or thalassaemia.

With Regards
Knderson
Journal Coordinator
Global Journal of Research and Review