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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
In the United States, the prevalence of HE is approximately 3–5 per 10,000. HE appears to be more common in African Americans. Worldwide, HE is more common in regions with endemic malaria. In equatorial Africa, HE is present in ≥0.6% of the population. A particular form of HE, Southeast Asian ovalocytosis (SAO), is found in 30% of the population in some areas. The inheritance mode of HE is almost entirely autosomal dominant.
Screening tools for hereditary hemolytic anemia: new concepts and strategies
Published in Expert Review of Hematology, 2021
Elisa Fermo, Cristina Vercellati, Paola Bianchi
Most studies reported a sensitivity ranging between 89 and 97%, and a specificity ranging between 96 and 99% for detecting HS [37–40]. In particular, EMA-binding can differentiate HS from secondary spherocytosis, but gives positive results in other congenital RBC defects, such as in Southeast Asian ovalocytosis (SAO), HPP, cryohydrocytosis and some cases of HE and CDAII [41,42]. In order to decrease the intra-assay variation and to harmonize result presentation, fluorescence intensity, expressed as median channel fluorescence (MCF), is usually compared with those of healthy subjects collected on the same day, and results are expressed as the percentage of fluorescence reduction of the patient compared to the mean fluorescence of three to six normal controls [43], as reported in the following calculation: % fluorescence reduction = [(median patient’s MCF – median controls’ MCF)/median controls’ MCF] x100.
A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report
Published in Hematology, 2020
Soyoung Shin, Kyung-Ah Hwang, Kyuhyun Paik, Joonhong Park
Hereditary elliptocytosis (HE) is a hematologic disorder characterized by elliptically-shaped erythrocytes and a variable degree of hemolytic anemia. The clinical phenotype is usually mild with peripheral blood elliptocytes, but it can be moderately severe. In severe forms that achieve hereditary poikilocytosis, large red cell fragments are torn off, leaving erythrocytes with marked poikilocytosis. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton [1]. HE-1 is caused by heterozygous or homozygous mutation in the gene encoding erythrocyte membrane protein 4.1 (EPB41) on chromosome 1p35 [2]. HE-2 is caused by mutation in the SPTA1 gene [3]. HE-3 is caused by mutation in the SPTB gene [4]. HE-4, also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene [5]. Particularly, the complex EPB41 gene encodes a diverse family of protein 4.1R isoforms which are key components of the erythroid membrane skeleton that regulates red cell morphology and mechanical stability [6].
Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia
Published in Fetal and Pediatric Pathology, 2018
April W. Tan, Pablo Leung, Uday P. Patil
Specific diagnostic and screening tests are available for hereditary spherocytosis such as the osmotic fragility test, eosin-5-maleimide binding test (EMA), cryohemolysis test, osmotic gradient ektacytometry, acidified glycerol lysis (AGLT) or Pink test. Unfortunately, except for the osmotic fragility test, these tests are not widely available. The gold standard in the past for hereditary spherocytosis has been the osmotic fragility test. However, it is labor intensive, time-consuming and the least sensitive (68% on fresh blood, 81% on incubated blood) [16]. It also requires a substantial volume of blood, which may be difficult to obtain in a newborn patient. The EMA binding test, cryohemolysis test, ektacytometry, AGLT and Pink test are sensitive and specific [16,17], although most of them may still be positive in other rare membrane disorders such as Southeast Asian Ovalocytosis, sickle cell anemia, congenital dyserythropoietic anemia type 2 [18]. Both the EMA binding test and cryohemolysis test are quick and low cost [19,20], requiring small blood volumes, such as a capillary sample, an important consideration in neonates [21]. The EMA binding test and cryohemolysis are the recommended screening tests for hereditary spherocytosis [18].