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Hemolytic Anemia Associated with Red Cell Membrane Defects
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Rarely, newborns develop neonatal jaundice, hepatosplenomegaly, and acanthocytic hemolysis. The erythrocyte morphology was originally described as pyknocytosis, but probably falls within the spectrum of acanthocytosis. Hemolysis persists for several weeks and remits spontaneously. The etiology is unknown. Treatment is supportive.
Hematological problems in the neonate
Published in Prem Puri, Newborn Surgery, 2017
Andrea M. Malone, Owen P. Smith
Hemolytic disease of the newborn has several generally well-known causes (Rh incompatibility, ABO incompatibility, red cell enzyme, and membrane defects), all of which are discussed in more detail in individual sections of this chapter. A rare cause is infantile pyknocytosis. It can cause early neonatal jaundice with transient hemolytic anemia. It earns its name from the diagnostic red blood cell appearances (pyknocytes) on the peripheral blood smear. The cause remains unknown, but there is probably a familial susceptibility, which may promote the occurrence under certain circumstances. Whether the trigger is environmentally acquired or intrinsic remains to be determined. Its management is largely supportive consisting of phototherapy and red cell transfusion before the condition resolves spontaneously around 4–6 months of age.40
Inherited Disorders of Red Cell Membrane Proteins
Published in Ronald L. Nagel, Genetically Abnormal Red Cells, 2019
“Hereditary elliptocytosis” is a diagnosis applied to a heterogeneous group of clinical conditions which share a common red cell morphology — elliptocytes. In its most common form, hereditary elliptocytosis is an autosomal-dominant disorder characterized by mild or no anemia, minimum or no reticulocytosis, normal mean corpuscular volume, normal osmotic fragility, and peripheral smear striking in the predominance of regular-contoured, biconcave elliptocytes.57,58 Occasionally, family studies reveal that “carriers” may even have normal red cell morphology.59 Some newborns who ultimately develop classical hereditary elliptocytosis as older children have a transient hemolytic anemia associated with bizarre morphology consisting of fragmented and poikilocytic red cells, putting them into the general category of “infantile pyknocytosis”.60-62 Older individuals with hereditary elliptocytosis may also have transient episodes of intense hemolysis, especially with intercurrent infections.63 In some kindreds with classical hereditary elliptocytosis, an occasional family member will have a more severe disease with impressive chronic hemolysis. Although there is usually no obvious explanation for this clinical disparity,64 some of the individuals are clearly double heterozygotes.65 In some families, the red cell morphology has a mixture of elliptocytes and spherocytes, and the osmotic fragility is increased.66 In Melanesians, there is a variety of hereditary elliptocytosis where the elliptocytes have a stomatocytic appearance.67 These various clinical manifestations of hereditary elliptocytosis are not each associated with a specific molecular defect, as will be discussed in the following section.
Screening tools for hereditary hemolytic anemia: new concepts and strategies
Published in Expert Review of Hematology, 2021
Elisa Fermo, Cristina Vercellati, Paola Bianchi
The presence of spherocytes is not a constant finding in HS, being very few or no detectable in about 10% of patients [20]. However, detection of spherocytes and hyperdense cells (% Hyper, developed on Advia Analyzer) are positive predictors for HS in association with family history, RBC indices compatible with HS, and ≥ 6.4% Hyper [26]. In general, increased % Hyper indicates RBC dehydration; consequently, this parameter can also be altered in other hemolytic conditions, for example in infantile pyknocytosis, acquired immune spherocytosis, CDAII and DHSt [18].