Blood, 1957, Vol. 12, No. 7, pp. 593-602.
© 1957 American Society of Hematology, Inc.
Studies on Abnormal Hemoglobins
XIII. Hemoglobin S-Thalassemia Disease and Hemoglobin C-Thalassemia Disease in Siblings
KARL SINGER 1,
AARON M. JOSEPHSON 1,
LILY SINGER 1,
PAUL HELLER 1, and
HYMAN J. ZIMMERMAN 1
1 Department of Hematologic Research, Medical Research Institute, Michael
Reese Hospital and the Department of Medicine, West Side V.A. Hospital, Chicago,
Illinois.
A family study is reported in which the simultaneous presence of C-thalassemia
and S-thalassemia disease is noted. Marked interaction of the genes for the
abnormal hemoglobins and for thalassemia is evident.
The value of the accessory hemoglobins for the diagnosis of thalassemia minor
is discussed.
The Hb S + F pattern can no longer be assumed to be diagnostic of sickle cell
anemia. Evaluation of all hematologic data and the family background of the
patient may be necessary to rule out the presence of the thalassemia gene.
A discussion of the genetics of the double heterozygous states for thalassemia
and an abnormal hemoglobin is presented.
Submitted on October 24, 1956
Accepted on February 17, 1957
