Alpha thalassemia, an inherited blood disorder, disrupts the delicate balance of hemoglobin, the oxygen-carrying protein in red blood cells. This imbalance stems from mutations in the genes responsible for producing alpha-globin chains, one of the two components of hemoglobin. The reduced or absent synthesis of alpha-globin chains sets the stage for a spectrum of clinical manifestations, ranging from mild anemia to severe life-threatening complications.
Red Blood Cells
High Performance Liquid Chromatography (HPLC) for Identification of Hemoglobin Subtypes
HPLC has revolutionized hemoglobin subtype identification, offering a powerful tool for diagnosing and managing hemoglobinopathies. Its high sensitivity, specificity, and ability to quantify different hemoglobin variants make it an invaluable technique in clinical and research settings. As research continues, the application of HPLC in hemoglobinopathy diagnosis and management is likely to expand even further.
Glucose-6-Phosphate Dehydrogenase (G6PD) Fluorescent Spot Test
The G6PD fluorescent spot test is a rapid and reliable method for diagnosing glucose-6-phosphate dehydrogenase (G6PD) deficiency, a genetic disorder characterized by an enzyme deficiency that can lead to hemolytic anemia. This simple yet effective test relies on the enzyme’s ability to convert nicotinamide adenine dinucleotide phosphate (NADP+) to its fluorescent form, NADPH. The intensity of fluorescence observed under ultraviolet (UV) light directly correlates with G6PD activity.
Alpha-Thalassemia: An Imbalanced Problem
Alpha thalassemia, an inherited blood disorder, disrupts the delicate balance of hemoglobin, the oxygen-carrying protein in red blood cells. This imbalance stems from mutations in the genes responsible for producing alpha-globin chains, one of the two components of hemoglobin. The reduced or absent synthesis of alpha-globin chains sets the stage for a spectrum of clinical manifestations, ranging from mild anemia to severe life-threatening complications.
High Performance Liquid Chromatography (HPLC) for Identification of Hemoglobin Subtypes
HPLC has revolutionized hemoglobin subtype identification, offering a powerful tool for diagnosing and managing hemoglobinopathies. Its high sensitivity, specificity, and ability to quantify different hemoglobin variants make it an invaluable technique in clinical and research settings. As research continues, the application of HPLC in hemoglobinopathy diagnosis and management is likely to expand even further.
Glucose-6-Phosphate Dehydrogenase (G6PD) Fluorescent Spot Test
The G6PD fluorescent spot test is a rapid and reliable method for diagnosing glucose-6-phosphate dehydrogenase (G6PD) deficiency, a genetic disorder characterized by an enzyme deficiency that can lead to hemolytic anemia. This simple yet effective test relies on the enzyme’s ability to convert nicotinamide adenine dinucleotide phosphate (NADP+) to its fluorescent form, NADPH. The intensity of fluorescence observed under ultraviolet (UV) light directly correlates with G6PD activity.
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