Facile spectroscopy and atomic force microscopy for the discrimination of α and β thalassemia traits and diseases: A photodiagnosis approach

Thalassemia (Thal) is an inherited blood disorder endemic to the Mediterranean and Middle East (e.g., KSA and UAE). This disease is caused by defects in the synthesis of one or more hemoglobin chains in red blood cells (RBCs). Alpha (α) Thal is caused by a reduced or absent alpha globin segment. Similarly, beta (β) Thal is caused by a defect in the beta globin segment. We divided the diseases into four groups: α Thal trait, α Thal disease, β Thal trait, and β Thal disease. The α or β Thal traits are milder variants of these diseases and do not require treatment; but β Thal disease (and to a lesser extent, α Thal) causes hemolytic anemia, splenomegaly, and bone deformities and requires repeated lifelong blood transfusions. This paper presents results regarding the identification of Thal variants using fluorescence spectroscopy of blood biomolecules and atomic force microscopy analysis of the morphologic features of red blood cells. The combined results provide new insights into the characteristics of these diseases. Furthermore, this study shows why β Thal disease subjects are often transfusion-dependent, and α Thal disease subjects are only occasionally transfusion dependent.