Family case hemolytic anemia due to abnormal unstable hemoglobin with low oxygen affinity (Hb Cheverly)

Abstract

Hereditary hemolytic anemia caused by unstable hemoglobin is a rare pathology, characterized by variability of clinical manifestations. This disease is characterized by the hemolytic crises, which are frequently associated with infections or taking drugs that cause hemolysis. Age of debut depends on which of the globin chains mutation occurs. Among these diseases, hemolytic anemia associated with the presence of a structurally abnormal unstable hemoglobin with low oxygen affinity in the erythrocytes is a special group. With this type of abnormal hemoglobin, pulse oximetry demonstrates falsely low oxygen saturation of the blood, with increased oxygen delivery to the tissues. It is important to identify unstable hemoglobin in order to avoid the misinterpretation of low oxygen saturation during the pulse oximetry in emergency cases, surgeries or intensive therapy. The article presents an analysis of the family with hereditary hemolytic anemia due to unstable hemoglobin Cheverly. The main clinical and diagnostic markers of the disease are described in detail. Parents gave their permission for using personal data for clinical research and publications.