Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia
Autoimmune haemolytic anaemia (AIHA) is an acquired heterogenous clinical entity with variable presentations like acute haemolysis or mild, chronic haemolysis compounded with acute exacerbation in winters or fatal uncompensated haemolysis. A step-wise approach to the diagnosis and characterisation o...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-01-01
|
| Series: | Journal of Family Medicine and Primary Care |
| Subjects: | |
| Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2024;volume=13;issue=2;spage=409;epage=416;aulast=Arora |
| _version_ | 1827309381144805376 |
|---|---|
| author | Harkiran Arora Shalini Trivedi Pooja Jain Udita Singhal Arunpreet Kaur Aditi Raina |
| author_facet | Harkiran Arora Shalini Trivedi Pooja Jain Udita Singhal Arunpreet Kaur Aditi Raina |
| author_sort | Harkiran Arora |
| collection | DOAJ |
| description | Autoimmune haemolytic anaemia (AIHA) is an acquired heterogenous clinical entity with variable presentations like acute haemolysis or mild, chronic haemolysis compounded with acute exacerbation in winters or fatal uncompensated haemolysis. A step-wise approach to the diagnosis and characterisation of AIHA should be undertaken, firstly the diagnosis of haemolysis followed by the establishment of immune nature with the aid of direct agglutination tests (DAT). Simultaneously the other causes of immune haemolysis need to be excluded too. In light of advancements in diagnostics, a wide array of investigations can be used like absolute reticulocyte count, bone marrow responsiveness index to establish the evidence of haemolysis, sensitive gel technology, enhanced DAT assays, e.g., modified DAT with low ionic strength saline solution (LISS) at 4°C, DAT assays utilizing reagents such as anti-IgA and anti-IgM and DAT by flowcytometry, to detect RBC bound autoantibodies (Abs) and monospecific DAT to establish immune causes of haemolysis and characterisation of the autoantibodies. The compensatory role of bone marrow and synchronous pathologies like clonal lymphoproliferation, dyserythropoiesis, fibrosis are important factors in the evolution of the disease and aid in the customisation of treatment modalities. The laboratory work up should aim to diagnose underlying diseases like chronic lymphoproliferative disorders, autoimmune disorders and infectious diseases. Also, tests like autoimmune lymphoproliferative syndromes (ALPS) screening panel and Next-generation sequencing (NGS) panel for RBC membrane disorders, RBC enzymopathies, and congenital dyserythropoietic aneamia have found their place. It is incumbent upon the clinicians to use the all-available diagnostic modalities for the accurate diagnosis, prognostication and customisation of the therapy. |
| first_indexed | 2024-04-24T19:39:19Z |
| format | Article |
| id | doaj.art-0205bd41faea4ec580cdfcf06c885a79 |
| institution | Directory Open Access Journal |
| issn | 2249-4863 |
| language | English |
| last_indexed | 2024-04-24T19:39:19Z |
| publishDate | 2024-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj.art-0205bd41faea4ec580cdfcf06c885a792024-03-25T11:16:14ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632024-01-0113240941610.4103/jfmpc.jfmpc_2131_22Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemiaHarkiran AroraShalini TrivediPooja JainUdita SinghalArunpreet KaurAditi RainaAutoimmune haemolytic anaemia (AIHA) is an acquired heterogenous clinical entity with variable presentations like acute haemolysis or mild, chronic haemolysis compounded with acute exacerbation in winters or fatal uncompensated haemolysis. A step-wise approach to the diagnosis and characterisation of AIHA should be undertaken, firstly the diagnosis of haemolysis followed by the establishment of immune nature with the aid of direct agglutination tests (DAT). Simultaneously the other causes of immune haemolysis need to be excluded too. In light of advancements in diagnostics, a wide array of investigations can be used like absolute reticulocyte count, bone marrow responsiveness index to establish the evidence of haemolysis, sensitive gel technology, enhanced DAT assays, e.g., modified DAT with low ionic strength saline solution (LISS) at 4°C, DAT assays utilizing reagents such as anti-IgA and anti-IgM and DAT by flowcytometry, to detect RBC bound autoantibodies (Abs) and monospecific DAT to establish immune causes of haemolysis and characterisation of the autoantibodies. The compensatory role of bone marrow and synchronous pathologies like clonal lymphoproliferation, dyserythropoiesis, fibrosis are important factors in the evolution of the disease and aid in the customisation of treatment modalities. The laboratory work up should aim to diagnose underlying diseases like chronic lymphoproliferative disorders, autoimmune disorders and infectious diseases. Also, tests like autoimmune lymphoproliferative syndromes (ALPS) screening panel and Next-generation sequencing (NGS) panel for RBC membrane disorders, RBC enzymopathies, and congenital dyserythropoietic aneamia have found their place. It is incumbent upon the clinicians to use the all-available diagnostic modalities for the accurate diagnosis, prognostication and customisation of the therapy.http://www.jfmpc.com/article.asp?issn=2249-4863;year=2024;volume=13;issue=2;spage=409;epage=416;aulast=Aroradirect antiglobulin testenhanced datwarm autoimmune haemolytic anaemia cold agglutinin syndrome |
| spellingShingle | Harkiran Arora Shalini Trivedi Pooja Jain Udita Singhal Arunpreet Kaur Aditi Raina Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia Journal of Family Medicine and Primary Care direct antiglobulin test enhanced dat warm autoimmune haemolytic anaemia cold agglutinin syndrome |
| title | Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia |
| title_full | Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia |
| title_fullStr | Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia |
| title_full_unstemmed | Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia |
| title_short | Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia |
| title_sort | collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia |
| topic | direct antiglobulin test enhanced dat warm autoimmune haemolytic anaemia cold agglutinin syndrome |
| url | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2024;volume=13;issue=2;spage=409;epage=416;aulast=Arora |
| work_keys_str_mv | AT harkiranarora collageofcasesandbriefreviewofthelaboratorydiagnosisandmoleculartestinginautoimmunehaemolyticanaemia AT shalinitrivedi collageofcasesandbriefreviewofthelaboratorydiagnosisandmoleculartestinginautoimmunehaemolyticanaemia AT poojajain collageofcasesandbriefreviewofthelaboratorydiagnosisandmoleculartestinginautoimmunehaemolyticanaemia AT uditasinghal collageofcasesandbriefreviewofthelaboratorydiagnosisandmoleculartestinginautoimmunehaemolyticanaemia AT arunpreetkaur collageofcasesandbriefreviewofthelaboratorydiagnosisandmoleculartestinginautoimmunehaemolyticanaemia AT aditiraina collageofcasesandbriefreviewofthelaboratorydiagnosisandmoleculartestinginautoimmunehaemolyticanaemia |