Blood Res.  2022 Jun;57(2):86-94. 10.5045/br.2022.2021224.

Korean clinical practice guidelines for the diagnosis of hereditary hemolytic anemia

• Chueh HW
• Hwang SM
• Shim YJ
• Lee JM
• Park HS
• Lee JH
• Nam Y
• Kim N
• Jung HL
• Choi HS
• on behalf of Korean RBC Disorder Working Party

• KMID: 2530870
• DOI: http://doi.org/10.5045/br.2022.2021224

Abstract

Although the prevalence of hereditary hemolytic anemia (HHA) is relatively low in Korea, it has been gradually increasing in recent decades due to increment in the proportions of hemoglobinopathies from immigrants of South East Asia, raising awareness of the disease among clinicians, and advances in diagnostic technology. As such, the red blood cell (RBC) Disorder Working Party (WP), previously called HHA WP, of the Korean Society of Hematology (KSH) developed the Korean Standard Operating Procedures (SOPs) for the diagnosis of HHA in 2007. These SOPs have been continuously revised and updated following advances in diagnostic technology [e.g., flow cytometric osmotic fragility test (FOFT) and eosin-5-maleimide (EMA) binding test], current methods for membrane protein or enzyme analysis [e.g., liquid chromatography-tandem mass spectrometry (LC-MS/MS), ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS), high-performance liquid chromatography (HPLC)], and molecular genetic tests using next-generation sequencing (NGS). However, the diagnosis and treatment of HHA remain challenging as they require considerable experience and understanding of the disease. Therefore, in this new Korean Clinical Practice Guidelines for the Diagnosis of HHA, on behalf of the RBC Disorder WP of KSH, updated guidelines to approach patients suspected of HHA are summarized. NGS is proposed to perform prior to membrane protein or enzyme analysis by LC-MS/MS, UPLC-MS/MS or HPLC techniques due to the availability of gene testing in more laboratories in Korea. We hope that this guideline will be helpful for clinicians in making diagnostic decisions for patients with HHA in Korea.

Keyword

Hereditary hemolytic anemia; Diagnosis; Standard operating procedures

Figure

• 

  Fig. 1 Updated standard operating procedure for the diagnosis of hereditary hemolytic anemia by the RBC Disorder Working Party of the Korean Society of Hematology [5, 6]. Abbreviations: CBC, complete blood count; EMA, eosin 5 -maleimide; HHA, hereditary hemolytic anemia; HPLC, high performance liquid chromatography; LC-MS/MS, liquid chromatography-tandem mass spectrometry; LDH, lactate dehydro-genase; OFT, osmotic fragility testing; PBS, peripheral blood smear; RBC, red blood cell; TIBC, total binding capacity; UPLC-MS/MS, ultra-performance liquid chromato-graphytandem mass spectrometry.

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