Spectral detection of thalassemia: a preliminary study

Abstract

BackgroundThalassemias (Thal) are forms of inherited autosomal recessive blood disorders arising out of mutations in the chromosomes 11 or 16. These disorders lead to poor oxygen delivery to blood vessels and consequent splenomegaly, bone deformities, and shorter life spans. The most common detection methods for Thal are complete blood count (CBC) followed by electrophoresis and molecular diagnosis methods, such as high-performance liquid chromatography (HPLC) and polymerase chain reaction (PCR) genotyping. These methods involve sophisticated instrumentations and are cumbersome and expensive.ResultsIn this study an innovative spectral detection method, based on the fluorescence spectra of a set of biomolecules (tyrosine, tryptophan, nicotinamide adenine dinucleotide, and flavin adenine dinucleotide and porphyrins) found in blood components is presented. An algorithm based on the spectral features of such biomolecules of blood components of 20 Thal patients (10 female and 10 male) and 18 age adjusted normal controls (4 female and 14 male) demonstrate reasonable level of classification with sensitivity and specificity values exceeding 90%.ConclusionThis new technique could be of significant value for Thal detection, diagnosis, and subsequent genetic counselling and could be adapted for use in small primary health centres.

Fluorescence spectral diagnosis of malaria – a preliminary study

“…This is because the RBC of thalassemia patients is fragile. This is manifested as the abnormally high value of R 2 and R 3 as these two parameters area measure of metabolites of hemoglobin [ 17 - 19 ]. For example, NADH is abnormally low and FAD is high for thalassemia samples, because of which R 2 and R 3 is elevated.…”

“…The methods and materials for spectral diagnosis of cancer and hemoglobinopathies have been presented in a number of papers earlier [ 11 - 19 ]. The same procedure had been adopted here too.…”

A Novel Technique of Spectral Discrimination of Variants of Sickle Cell Anemia

“…This work is an extension of similar spectral analysis of blood from patients of cancer or many other blood disorders. [ 8 – 13 ]. The biggest advantage of fluorescence is it is very sensitive, and the instrumentation could be made compact and transportable (within 5 kg).…”

Fluorescence Spectral Features of Blood Components of Pregnant Women

“…Fluorescence spectral diagnosis is a new technique to detect and diagnose diseases such as thalassaemia and sickle cell anaemia, by quantifying fluorescent biomolecules in blood plasma and erythrocytes [5][6][7] . Based on significant success, the technique is being used to explore the spectral features of blood components in healthy pregnant women in order to gain insights into the metabolic changes during pregnancy.…”

“…This fragility of RBCs is demonstrated in Figures 1 and 2, where tryptophan (an essential amino acid) level was substantially low and metabolite FAD was significantly high, leading to a sixfold lower value of R 1 in Thal patients. From the study of spectral features of Thal patients, who exhibit 50% higher level of haemolysis [5][6][7] , we could infer that pregnant women manifest 25% lower level of haemolysis. This was demonstrated by three corroborating observations: first, tryptophan level was approximately twofold higher; secondly FAD level was approximately 25% lower in the pregnant women compared to the control group (Figure 1) and thirdly, porphyrin level was 80% higher in pregnant women (Figure 4).…”