Synthesis of sickle and normal hemoglobins: Laboratory and clinical implications
Abnormalities of hemoglobin synthesis and structure are major causes of serious morbidity and early mortality. In the United States, most hemoglobin research is focused on developing treatments for sickle cell diseases. To date, the greatest impact on this disease is being made in newborn screening programs to prevent early morbidity and provide effective screening and counseling programs. The frequent coexistence of hemoglobinopathies and thalassemias complicates laboratory evaluation of common hemoglobin disorders, such as sickle cell trait. However, based on the number of hemoglobin types, RBC parameters, and degrees of anemia, the hemoglobin genotype can usually be accurately predicted. With new therapies for sickle cell disease aimed at modifying fetal hemoglobin concentrations, and more comprehensive newborn screening, there is a greater need for laboratories to develop methods to handle larger clinical volumes with rapid turnaround time and to provide interpretation for complex hemoglobin patterns.
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