Splenic Sequestration and Ineffective Erythropoiesis in Hemoglobin E-β-Thalassemia Disease

Abstract

Summary: A 13-year-old Thai female with hemoglobin E-β-thalassemia was evaluated for anemia and splenomegaly. Globin chain synthesis in a whole cell system revealed an absence of β^A chains and excessive α chains. The α/β^E + γ ratio was 1.26 in bone marrow and 1.90 in peripheral blood. The average γ/β^E ratio in bone marrow and peripheral blood was 0.36 compared to peripheral blood concentrations of 49% hemoglobin E and 51% hemoglobin F. Homologous red cell ⁵¹Cr half-life increased from 22.7 days to 32.8 days after splenectomy. Total circulating hemoglobin increased from 112.9 to 149.7 g. Endogenous carbon monoxide productive (V_CO) as a measure of total heme catabolism decreased from 2.00 to 1.54 μmol/hr/kg. Ineffective erythropoiesis was manifested by an increased V_CO/V_heme-c ratio of 7.52.

Speculation: Splenic sequestration may occur as a complicating factor in the anemia of hemoglobin E-β-thalassemia. The mechanism of this disorder is probably related to excessive α chain production and hemoglobin E instability.

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