Autoimmune Hemolytic Anemia as a Complication of Congenital Anemias. A Case Series and Review of the Literature

Motta, Irene; Giannotta, Juri Alessandro; Ferraresi, Marta; Barbullushi, Kordelia; Revelli, Nicoletta; Graziadei, Giovanna; Barcellini, Wilma; Fattizzo, Bruno

doi:10.3390/jcm10153439

Cited by 9 publications

(3 citation statements)

References 39 publications

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“…It is also important to reconsider congenital forms (even in adults) after all acquired forms have been excluded and vice versa; and also to take into account the possibility of the coexistence of acquired and congenital forms in the same patient. 54 Thereafter, patient management should be individualized considering the different ages, comorbidities, and frequency of complications (gallstone, hemolytic and aplastic crises, and iron overload) ( Figure 1B ). The need of transfusions, iron chelation, splenectomy, and cholecystectomy will be tuned accordingly.…”

Section: Discussionmentioning

confidence: 99%

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects

Fattizzo¹,

Cavallaro²,

Marcello³

et al. 2022

JBM

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Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disease marked by chronic hemolytic anemia of various severity and frequent complications including gallstones, splenomegaly, iron overload, and others. Disease phenotype is highly heterogeneous and changes over time with children, adolescents and adult patients displaying different transfusion requirement and rates of complications. The diagnosis relies on the initial clinical suspicion in a patient with chronic hemolysis and exclusion of other more common congenital forms of hemolytic anemias; it is supported by the demonstration of reduced PK enzyme activity, and further confirmed by the detection of (homozygous or compound heterozygous) mutations of PKLR gene. Therapy is mainly supportive, with vitamin supplementation and transfusions (based on symptoms and patient growth rather than on fixed Hb thresholds). Splenectomy is widely performed, although it is less effective than in membrane defects and carries thrombotic and infectious risk. In the last decade, the allosteric PK enzyme activator mitapivat showed dramatic clinical benefit in clinical trials and gene therapy is also being studied to substitute the defective enzyme. In this review, we provide an insight in the current challenges of PKD diagnosis and management and discuss the future application of novel drugs and gene therapy, including a focus on quality of life.

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Section: Discussionmentioning

confidence: 99%

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects

Fattizzo¹,

Cavallaro²,

Marcello³

et al. 2022

JBM

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“…Autoantibodies have also been identified, albeit they are seldom linked with overt autoimmune hemolytic anemia. Allo-and autoantibodies are both detected in persistently transfused patient and can be a cause of few but lethal complications 14 .…”

Section: Discussionmentioning

confidence: 99%

Alloimmunization and Autoimmunization in Multi-Transfused Thalassemic Patients: A Single Center Study

Fateen¹,

Saqlain²,

Mazhar³

et al. 2022

PJMHS

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Aim: To determine frequency of alloimmunization and autoimmunization among the patient of thalassemia with history of multiple blood transfusions. Methods: This study was conducted by consecutive sampling in six months duration from September 2020 to August 2021 at the department of Hematology and blood Transfusion Medicine, of University of Child Health Sciences, The Children's Hospital Lahore. Any patient with a positive Direct antiglobulin test (DAT) was labeled as auto-immunized and a positive indirect antiglobulin test (IAT) was labeled as alloimmunized. Results: Total 90 cases were enrolled with 62% male and 38% females with a mean age 6.04 + 3.3 years (range of age: 7 months to 14 years). Antibody screening and auto-antibodies were positive in 4.4% (n= 4) cases each, and allo-antibodies in 6.7% (n=6) cases (anti-E in 2, anti-C in 2, anti-K and anti-e in 1 each). Among all these patients of beta thalassemia, spleen was enlarged in 71% cases; around half of these were <5 years old. Around 96% had first transfusion <2 years. The frequency of patients positive on DAT, IAT and on anti-body screening was significantly related to the frequency of blood transfusion Practical Implications: Autoantibodies produce a positive direct antiglobulin test (DAT), resulting in hyperhemolysis of red cells in thalassemic patients, which exacerbates the existing alloantibodies factor in children who have received several blood transfusions. The gap between transfusions will be shortened. Routinely, greater emphasis is placed on the identification of allo-antibodies, but auto-antibodies should also be evaluated so that this phenomena may be better understood and handled. This study was conducted to examine the link between a greater transfusion demand and the existence of auto or allo antibodies in Thalassemia patients. I Conclusion: We found Alloimmunization and autoimmunization together not very uncommon in transfusion dependent patients of Thalassemia. The frequency of transfusions is affected in co-existing states. Extended matching, as well as early diagnosis and control of Auto and allo-antibodies both can improve the efficacy of blood transfusion. Keywords: Autoantibodies, IAT, DAT, Coomb’s test, Thalassemia, Allo-immunization

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“…Moreover, viral and bacterial reactivations during immunosuppressive therapies are discussed, along with suggested screening and prophylactic strategies. Some particular aspects are further addressed, namely, AIHA in pediatric settings [ 5 ], in association with congenital anemias [ 6 ], in patients with liver and bowel disorders [ 7 ], and in CLL [ 8 ], with a focus on novel therapeutic agents in the latter, such as ibrutinib, idelalisib, and venetoclax, mostly in association with rituximab. The Special Issue also describes new target therapies for primary AIHA [ 1 ], either directed against antibody-producing B-lymphocytes/plasmacells (ofatumumab, alemtuzumab, and daratumumab) or phosphatidylinositol 3-kinase signaling (parsaclisib).…”

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confidence: 99%