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Preimplantation Genetic Diagnosis for Single Gene Disorders
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Ana Cervero, Jose Antonio Martínez-Conejero, Lucía Sanz-Salvador, Claudia Gil-Sanchís, Maribel Sánchez-Piris, Laura Iñiguez Quiles
Hemolytic disease of the newborn, also known as erythroblastosis fetalis, isoimmunization, or blood group incompatibility, occurs when fetal red blood cells, which possess an antigen that the mother lacks, cross the placenta into the maternal circulation, where they stimulate antibody production. ABO incompatibility is the most common cause of hemolytic disease of the newborn followed by the Rhesus and Kell systems (17).
Hemolytic Disease of the Fetus and Newborn
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Pedro Argoti, Ana M. Angarita, Giancarlo Mari
Antibodies against these antigens are usually find at low titer and in conjunction with anti Rh(D) [142]. c (small): This antigen carries a 10% risk of severe hemolytic disease [2]. A large populations study showed that severe hemolytic disease of the newborn occurred in 8.5% of the fetuses with anti-C and in 1.1% of the fetuses with anti-E [2]. C (big) and E (big) are associated with mild to severe hemolytic disease of the newborn [87].
Erythroblastosis fetalis
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Avinash Patil, Brian Brocato, Rebecca A. Uhlmann, Giancarlo Mari
Red blood cell (RBC) alloimmunization, or isoimmunization, is the development of maternal antibodies to fetal RBC antigens. Hemolytic disease of the newborn/fetus is a hemolytic anemia that results from the lysis of the fetal RBCs by maternal antibodies. It is often characterized by excessive erythroblasts in the fetal bone marrow and circulation (erythroblastosis fetalis). Other features include generalized edema (hydrops fetalis) and hepatosplenomegaly. Alloimmunization and hemolytic disease of the newborn/fetus most commonly occur when maternal antibodies form against paternally derived Rhesus (D) antigens of the fetus, which is termed Rhesus (Rh) alloimmunization.
Long-term storage protocol of reagent red blood cells treated with 0.01M dithiothreitol (DTT) for pre-transfusion testing of patients receiving anti-CD38 therapy, daratumumab
Published in Hematology, 2023
Yuyuan Li, Chengyao Li, Ling Zhang, Jiao Li, Qixin Li, Haining Ouyang, Jiaona Luo, Linrui Zhu, Kui Cai
Compared with Hosokawa’s [10] study, the present study provides a more in-depth evaluation of experimental details such as incubation time and antigen intensity, and extends the shelf life of DTT-treated RBCs to 18 days, solving the ‘pain point’ that DTT-treated RBCs can be used only once. Compared to the traditional high-concentration DTT treatment protocol of Disbro [11] and Sigle [23], the present protocol does not completely destroy the activity of the K antigen. Since anti-K antibodies can cause severe hemolytic transfusion reactions and hemolytic disease of the newborn, this protocol is more advantageous in ensuring the safety of blood transfusion, especially when applied to populations with a high frequency of K antigens such as Caucasians (9%) and Arabs (25%) [22]. Besides, some studies pointed out that after 0.2M DTT treatment, the red blood cells would become sticky, and some RBCs even showed stronger pan-agglutination results in the microcolumn gel cards than before treatment [25]. But this phenomenon was not observed in the 0.01M DTT treatment of our study. This is another advantage over traditional methods.
Strategies to overcome the diagnostic challenges of autoimmune hemolytic anemias
Published in Expert Review of Hematology, 2023
Wilma Barcellini, Bruno Fattizzo
The DAT was first described in 1945 by Robin Coombs (after whom it is named), Arthur Mourant and Rob Race in Cambridge, and was done in test tubes. Since its first description, the DAT has been applied in to investigate immediate and delayed alloimmune hemolytic transfusion reactions, hemolytic disease of the newborn, and autoimmune hemolysis occurring in AIHAs [17,18]. The principle of the test relies on an anti-globulin reagent that binds to the Fc portions of the antibody bound to red cells, promoting the formation of a visible agglutination in a tube [1,17–21]. The anti-globulin reagent is indispensable to reveal IgG, IgA or complement fractions bound to the red cell since they are unable to directly agglutinate erythrocytes. At variance the anti-globulin reagent is not strictly necessary to detect IgM since they are pentamers, able to cause direct agglutination by bridging the gap between adjacent erythrocytes that normally repel each other by negative charge of sialic acid residues (Figure 1). Thus, spontaneous agglutination at 20°C is a very simple and old test, able to reveal the presence of anti-erythrocyte autoantibodies of the IgM class [1,2,17–21]. Sometimes, this agglutination may result in an alarm from the laboratory, as the coulter is unable to give proper results. Warm washes and re-testing are necessary to give a correct result, and a prompt communication between laboratory and clinicians may give important hints to guide the diagnosis [1,7].
Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia
Published in Platelets, 2022
Rebecca Carter, Anna-Kaisa Niemi
Neonatal alloimmune thrombocytopenia has an estimated incidence of 1 in 1200. It is the leading cause of severe thrombocytopenia in newborns and the leading cause of intracranial hemorrhage (ICH) in term infants. Through a mechanism similar to hemolytic disease of the newborn, NAIT results from a maternal antibody directed against a fetal platelet antigen inherited from the father. Maternal alloantibodies cross the placenta and bind fetal platelets, resulting in fetal and neonatal thrombocytopenia. Ten to 20% of affected infants will develop intracranial hemorrhage, the most severe complication of NAIT. As thrombocytopenia is frequently present prior to delivery, an estimated 80% of these intracranial hemorrhages occur prenatally. Spontaneous resolution of thrombocytopenia is typically observed in the first two weeks of life in infants with NAIT, though low platelet counts can rarely persist for months [11].