Hemolytic Anemia and Neurological Manifestations – An Uncommon Combination

Excerpt

Congenital hemolytic anemias are currently a major cause of morbidity worldwide, and include a wide range of phenotypically and genetically heterogenous disorders. The intrinsic red cell abnormalities include three major groups, the red cell membrane defects, hemoglobinopathies and erythrocytic enzymopathies. Despite having access to widely available basic hematological investigations such as peripheral smear, reticulocyte counts, iron levels and high performance liquid chromatography, a huge number still remains undiagnosed, and require advanced workup including molecular diagnosis. Erythrocytic enzymopathies are one of them and may present with normal red cell morphology; majority presenting as hereditary non-spherocytic hemolytic anemia (HNSHA). These may be non-neurological such as Glucose-6-phosphate dehydrogenase (G6PD) deficiency (OMIM 300908) and pyruvate kinase (PK) deficiency (OMIM 266200), and neurological. The latter includes Glucose-6-phosphate isomerase (GPI) deficiency (OMIM 613470), Triose phosphate isomerase (TPI) deficiency (OMIM 615512) or phosphoglycerate kinase 1 (PGK1) deficiency (OMIM 300653) [1]. Various neurological features in these disorders include intellectual disability, hypotonia, pyramidal tract signs, dyskinesias, ataxia, peripheral neuropathy, myalgias and progressive muscle weakness. The severity and extent of hematological and neurological manifestations varies in the neurological forms. …