Blood, 1955, Vol. 10, No. 5, pp. 405-415.
© 1955 American Society of Hematology, Inc.
Studies on Abnormal Hemoglobins
XI. Sickle Cell—Thalassemia Disease in the Negro. The Significance of the S + A + F and S + A Patterns Obtained by
Hemoglobin Analysis
KARL SINGER 1,
LILY SINGER 1, and
SEYMOUR R. GOLDBERG 1
1 Department of Hematologic Research, Medical Research Institute, Michael
Reese Hospital, Chicago, Ill.
(1) Four Negro patients with mild sickle cell-thalassemia disease (heterozygous
for the genes for S hemoglobin and for thalassemia) are described. In contrast
to reports in the literature, some of these patients are only mildly anemic, or
not anemic at all. In three, the values for MCV and MCH are decreased, but in
one, all hematologic indices are normal. All four individuals show leptocytosis
and elevated reticulocyte levels.
(2) Hemoglobin analyses, consisting of a combination of electrophoresis and
the alkali denaturation technic, demonstrate the S + A + F pattern in three,
and the S + A pattern in the fourth. These patterns are considered pathognomonic for sickle cell-thalassemia disease. They may be sharply differentiated
from the S + F pattern, encountered in classical (homozygous) sickle cell anemia,
and from the A + S pattern found in the heterozygous sickle cell trait. The
various types of hemoglobin are reported in the sequence of their quantitative
representation in the hemolysate. Hemoglobin analysis is indispensable for the
recognition of the different types of sickle cell disease.
(3) Evidence is cited that clinically almost asymptomatic sickle cell-thalassemia disease is probably not too rare in the American Negro population.
(4) The genetic aspects of the production of fetal hemoglobin are discussed.
It is postulated that the production of fetal hemoglobin is also under genetic
control. The genes for fetal hemoglobin are not alleles of the genes for normal
adult hemoglobin and are physiologically almost completely suppressed by the
latter. Pathologic genes may render this suppression incomplete.
Submitted on July 16, 1954
Accepted on September 22, 1954
