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Patients with homozygous sickle-cell disease may be homozygous for alpha-thalassemia 2 (alpha-/alpha-), may be heterozygous for alpha-thalassemia 2 (alpha-/alpha alpha), or may have a normal alpha-globin-gene complement (alpha alpha/alpha alpha). We compared the clinical and hematologic features of 44 patients who had sickle-cell disease and homozygous alpha-thalassemia 2 with those of controls with the two hematologic conditions. The patients with homozygous alpha-thalassemia 2 had significantly higher red-cell counts and levels of hemoglobin and hemoglobin A2, as well as significantly lower hemoglobin F, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, reticulocyte counts, irreversibly-sickled cell counts, and serum total bilirubin levels, than those with a normal alpha-globin-gene complement. Heterozygotes (alpha-/alpha alpha) had intermediate values. In the group with homozygous alpha-thalassemia 2, fewer patients had episodes of acute chest syndrome and chronic leg ulceration and more patients had splenomegaly, as compared with patients in other two subgroups. These data confirm previous suggestions that alpha-thalassemia inhibits in vivo sickling in homozygous sickle-cell disease and may be an important genetic determinant of its hematologic severity.

Type

Journal article

Journal

N Engl J Med

Publication Date

1982

Volume

306

Pages

1441 - 1446

Keywords

Adolescent Adult Anemia, Sickle Cell/blood/*complications/genetics Bilirubin/analysis Child Erythrocyte Count Erythrocyte Indices Female Fetal Hemoglobin/analysis Globins/genetics Hematocrit Hemoglobin A2/analysis Hemoglobins/analysis Heterozygote Homozygote Human Male Splenomegaly/complications Support, Non-U.S. Gov't Thalassemia/blood/*complications/genetics