Blood, 1960, Vol. 16, No. 4, pp. 1371-1397.
© 1960 American Society of Hematology, Inc.
Nonspherocytic Congenital Hemolytic Anemia
G. C. DE GRUCHY 1,
J. N. SANTAMARIA 1,
I. C. PARSONS 1, and
HAL CRAWFORD 1
1 Hematology Clinical Research Unit, St. Vincent’s Hospital, Melbourne,
Australia.
1. The clinical and hematological features of seven cases of nonspherocytic
congenital hemolytic anemia occurring in four different families are presented,
together with family studies. Four cases resemble Selwyn and Dacie’s Type
I and three cases their Type II. Cases in the literature similar to our cases
are reviewed.
2. The Type I cases showed the following features: normocytic or slightly
macrocytic anemia with mild hypochromia and some stippling; a decreased
or normal osmotic fragility of fresh blood and a decreased fragility of incubated blood; a slightly increased autohemolysis corrected by glucose and by
ATP. The family history was positive and clinical onset was usually in adult
life. Survival studies suggest that splenectomy may result in partial remission.
3. The Type II cases showed the following features: a marked uniform
macrocytosis with numerous Pappenheimer bodies (postsplenectomy); a
normal osmotic fragility of fresh blood and an increased fragility of incubated
blood; an increased autohemolysis uncorrected by glucose but corrected by
ATP. The family history was often negative and clinical onset was usually
in infancy. Splenectomy in general appeared to produce no benefit.
4. The classification and pathogenesis of these anemias is discussed. It is
pointed out that Type I is not a homogeneous group, and that our cases
simply represent one subgroup of this type. Type II appears to be a more
homogeneous group. Preliminary biochemical studies suggest the difference
in clinical types may be determined by differences in biochemical defects.
Submitted on November 27, 1959
Accepted on July 3, 1960
