Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia

Mbayabo, Gloire; Kabuyi, Paul Lumbala; Ngole, Mamy; Lumaka, Aimé; Race, Valérie; Maisin, Diane; Gruson, Damien; Matthijs, Gert; Minga, Tite Mikobi; Devriendt, Koenraad; Geet, Chris Van; Lukusa-Tshilobo, Prosper

doi:10.1002/jcla.24593

Cited by 2 publications

(1 citation statement)

References 29 publications

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“…Therefore, many epidemiological studies have recently focused on the differences between phenotypic manifestations and genetic diagnosis. 29 30 31 Advances in molecular genetic testing have also changed the strategies for prenatal and neonatal screenings. 32 33 34 35 …”

Section: Current Status and Epidemiological Trends Of Hhamentioning

confidence: 99%

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

Chueh,

Shim,

Jung

et al. 2024

J Korean Med Sci

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Hereditary hemolytic anemia (HHA) is considered a group of rare hematological diseases in Korea, primarily because of its unique ethnic characteristics and diagnostic challenges. Recently, the prevalence of HHA has increased in Korea, reflecting the increasing number of international marriages and increased awareness of the disease. In particular, the diagnosis of red blood cell (RBC) enzymopathy experienced a resurgence, given the advances in diagnostic techniques. In 2007, the RBC Disorder Working Party of the Korean Society of Hematology developed the Korean Standard Operating Procedure for the Diagnosis of Hereditary Hemolytic Anemia, which has been continuously updated since then. The latest Korean clinical practice guidelines for diagnosing HHA recommends performing next-generation sequencing as a preliminary step before analyzing RBC membrane proteins and enzymes. Recent breakthroughs in molecular genetic testing methods, particularly next-generation sequencing, are proving critical in identifying and providing insight into cases of HHA with previously unknown diagnoses. These innovative molecular genetic testing methods have now become important tools for the management and care planning of patients with HHA. This review aims to provide a comprehensive overview of recent advances in molecular genetic testing for the diagnosis of HHA, with particular emphasis on the Korean context.

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