ROENTGENOGRAPHIC AND CLINICAL APPRAISAL OF SICKLE CELL BETA-THALASSEMIA DISEASE

The doubly heterozygous variant form of sickle cell hemoglobinopathy, sickle cell-beta-thalassemia disease, is defined, the genetic background is discussed, and the clinical and roentgenologic polymorphism of the disorder is described in terms of the heterogeneity of the thalassemia gene and the differing hemoglobin electrophoretic patterns encountered in patients with this hematologic disease.

The roentgenologic and clinical findings in a group of 22 adult Negroes with this variant are described. The incidence within the group of each of the major roentgenologic findings is noted, and comparison is made with findings as observed in groups of patients with sickle cell anemia, and with sickle cell-hemoglobin C disease.

The roentgen findings are assessed in terms of their diagnostic specificity, and an attempt is made to correlate their magnitude with the severity of the individual’s clinical course and hemoglobin S concentration.

Emphasis is placed on the fact that the disorder bears little resemblance to Cooley’s anemia, and that all of the roentgen and clinical signs are those commonly associated with the sickle cell hemoglobinopathies.

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