Nonspherocytic Congenital Hemolytic Anemia

Abstract

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.

Red‐Cell Enzymes and Co‐Enzymes in Non‐Spherocytic Congenital Haemolytic Anaemias

“…Noti-Spherocytic Congenital Huemolytic Anaemia, Type I Three subjects from two families with this disorder were studied. Full clinical and haematological data of one subject have been published elsewhere (Case I , de Gruchy et al, 1960), as have results of red-cell phosphate analysis (Robinson et al, 1961). Cases z and 3 are niece and aunt; their haematological and red-cell phosphate values are summarized in Table VI.…”

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THE non-spherocytic congenital haemolytic anaemias were classified on haematological grounds by Selwyn and Dacie (1954) into two main types-Type I and Type 11. It now seems that Type I cases probably form a heterogeneous group while the Type I1 cases are probably a homogeneous group (de Gruchy, Santamaria, Parsons and Crawford, 1960). Robinson, Loder and de Gruchy (1961) presented evidence of impairment of cell metabolism in both Type I and Type I1 cases and suggested that in Type I1 cases there was an enzymatic defect in glycolysis beyond the stage of z,3-diphosphoglycerate (t,3-DPG) synthesis.

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Deficiency of Pyruvate Kinase in the Erythrocytes of a Child with Hereditary Non‐Spherocytic Hemolytic Anemia

“…Moreover, Brunetti and coworkers [5] found in their cases a decreased concentration of pentoses in the erythrocytes. Busch [7] described in one case an increased level of GSSG in the red cells and a reduction in the content of NAD and NADH, the last recently confirmed by De Gruchy and coworkers [17].…”

Studies on Glycolysis in Hereditary Non‐spherocytic Hemolytic Disease

“…In this connection it is interesting to note that also in at least some of Dacie's type I1 patients, there seems to be a deficient ATP production (18,20), the cause of which is not known.…”