Hereditary Erythroblastic Multinuclearity Associated with a Positive Acidified‐Serum Test: a Type of Congenital Dyserythropoietic Anaemia

Abstract

Summary. In five patients (including two sisters) an unusual anaemia was characterized by erythroblastic multinuclearity, ineffective erythropoiesis and a positive acidified‐serum test. Unlike PNH, the sugar‐water test was always negative in these patients. The lysis of their cells by acidified normal sera indicated their abnormal sensitivity to an agglutinating and complement‐binding antibody present in some normal subjects. The patients cells gave high agglutination scores with anti‐i, and were unusually susceptible to lysis by anti‐i and anti‐I. The disorder is apparently inherited as an autosomal recessive character.

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

“…CDA II is associated with well-defined cellular and ultrastructural features including binucleated or multinucleated late precursors, flat vesicles of variable length, and a double membrane beneath the cytoplasmic membrane. 3,4 The principal biochemical feature is the hypoglycosylation of several proteins, such as transferrin and band 3. 5,6 Much research has been devoted to enzymes involved in glycan synthesis.…”

Congenital dyserythropoietic anemia type II (CDA II) diagnosed in an adult patient

“…It is the most widely documented subtype of CDA, with approximately 367 cases reported in the literature, predominantly in European populations [15]. The term HEMPAS derives from observations by Crookston et al that the red blood cells from CDA II patients demonstrated susceptibility to lysis in ABO-compatible normal sera in the acidified serum lysis test (HAM's test) [16]. CDA II is an autosomal recessive disorder.…”

“…According to previously proposed classification schemes [24,25], confirmation of CDA II includes sodium dodecyl sulfate polyacrylamide gel electrophoresis for erythrocyte band 3 protein [26], acidified serum lysis testing (HAM's test) [16], electron microscopy to demonstrate the presence of a double membrane adjacent the cell membrane in mature red blood cells [27], or assessment of mutation status of the recently recognized SEC3B gene [12]. These specialized tests, however, are not available in most clinical laboratories.…”

Congenital dyserythropoietic anemia type II — a case report of two siblings in a family

“…The erythrocytes of patients with CDA type II are lysed in the acidifi ed serum lysis test(Ham's Test) but not the patient's serum. Consequently, CDA type-II is also described as hereditary multinuclearity with a positive acidifi ed serum lysis test(HEMPAS) [11]. A positive Ham's test is also seen in paroxysmal nocturnal hemoglobinuria the difference being that here it is positive even in the patient's own serum.…”