Hereditary Haemolytic Ovalocytosis with Defective Erythropoiesis

@article{Torlontano1979HereditaryHO,
  title={Hereditary Haemolytic Ovalocytosis with Defective Erythropoiesis},
  author={Glauco Torlontano and Giuseppe Fioritoni and Salvati Am},
  journal={British Journal of Haematology},
  year={1979},
  volume={43},
  url={https://api.semanticscholar.org/CorpusID:39176036}
}
These studies appear to define the fundamental features of a particular disorder or a variety of hereditary elliptocytosis; characterized by a genetic autosomal dominant character, moderate degree of RBC eccentricity, erythroid dysplasia with relative marrow failure and incomplete response to splenectomy.
View on Wiley
ncbi.nlm.nih.gov
5 Citations

5 Citations

Hereditary elliptocytosis: spectrin and protein 4.1R.

The majority of HE patients are asymptomatic, but some may experience hemolytic anemia, splenomegaly, and intermittent jaundice.

Molecular Defect of Spectrin in the Family of a Child with Congenital Hemolytic Poikilocytic Anemia

The study of a black family in which the proband suffered from a severe neonatal hemolytic anemia with poikilocytosis is presented, finding the first time discovery of a spectrin self-association defect in both parents allowed us to suspect double inheritance of this abnormality in the Proband.

Inherited disorders of the red cell membrane skeleton.

Clinical disorders of the red cell membrane skeleton.

Membranopatie krwinek czerwonych — patogeneza, obraz kliniczny i diagnostyka

Blona erytrocytow to zlozona, polplynna i dynamiczna struktura zbudowana ze skladnikow lipidowych i powiązanych z nimi licznych bialek o roznych funkcjach. Membranopatie, czyli wrodzone…

26 References

AUTOSOMAL DOMINANT HEMOLYTIC ANEMIA CHARACTERIZED BY OVALOCYTOSIS; A FAMILY STUDY OF SEVEN INVOLVED MEMBERS.

Hereditary Haemolytic Anaemia associated with Elliptocytosis: a Study of Three Families

This communication reports studies on three families, in each of which one member presented with a severe hereditary haemolytic anaemia associated with elliptical red cells and massive splenomegaly.

Erythrocyte Enzymatic Abnormalities in HEMPAS (Hereditary Erythroblastic Multinuclearity with a Positive Acidified‐Serum Test)

It is suggested that the enzymatic abnormalities of HEMPAS result from abnormal karyo‐ and cyto‐kinesis of the erythroid precursors.

Hereditary Elliptocytosis in Iceland

An Icelandic family with 50 elliptocytic individuals is surveyed. Pedigree studies indicate strongly that affected members of the family are descendants of a common ancestor. The hereditary pattern…

A Red Cell Membrane Protein Abnormality in Hereditary Elliptocytosis

One sibling with severe haemolysis demonstrated a grossly abnormal pattern while a less severely affected member showed an electrophoretic pattern similar to that of hereditary spherocytic red cells.

The Haemolytic Anaemias: Congenital and Acquired

This volume, which meets the high standard of scholarship and utility of its two predecessors in this edition, deals with secondary and symptomatic hemolytic anemias in three major sections.

Dyserythropoiesis, refractory anemia, and "preleukemia:" metabolic features of the erythrocytes.

Twenty-one enzymatic activities and red cell glutathione content are compared in cord blood, dyserythropoietic disorders, normal subjects, and subjects with hemolytic syndromes and reticulocytosis…

DYSERYTHROPOIESIS AND DYSERYTHROPOIETIC ANAEMIA

It is important to correlate morphological and functional aspects of dysplasia and to establish diagnostic criteria for making the diagnosis of dyserythropoietic anaemia.

Erythrokinetics: quantitative measurements of red cell production and destruction in normal subjects and patients with anemia.

It was considered important in these studies to employ a battery of tests in each subject in order to characterize ervthroid marrow activity and red cell turnover in the circulating blood and to determine the reliability and usefulness of procedures for quantitation of red cell production and destruction.

Radioiron and erythropoiesis: methods, interpretation and clinical application.

The technique is simple but time-consuming, and analysis of the data requires access to computing facilities, Nevertheless, when bone marrow erythroid activity must be assessed these radioiron methods offer a rational approach.