ArticleLaboratory medicine2026
High-performance liquid chromatography screening reveals HbS/β+-thalassemia double heterozygosity as a pediatric muscular dystrophy mimic.
Article in Laboratory medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionCompound hemoglobinopathies may present with variable clinical phenotypes, particularly when additional genetic modifiers coexist. Sickle cell hemoglobin (HbS)/β+-thalassemia can mimic other pediatric conditions, potentially delaying diagnosis. High-performance liquid chromatography (HPLC) is a widely accessible first-line screening tool that can facilitate identification of HbS/β+-thalassemia.
methodsAn 8-year-old boy from Mali presented with recurrent severe lower limb pain and gait impairment, initially suggesting a neuromuscular disorder. Laboratory evaluation revealed severe microcytic hypochromic anemia (hemoglobin, 6.3 g/dL) with reticulocytosis and biochemical evidence of hemolysis, despite preserved iron stores. Creatine kinase levels were normal. Peripheral smear showed anisopoikilocytosis with target cells, basophilic stippling, and rare sickled erythrocytes.
resultsThe HPLC findings demonstrated HbS predominance (64.2%) with elevated fetal hemoglobin (8.1%), increased adult hemoglobin A2 (5.4%), and residual adult hemoglobin A (22.3%), consistent with HbS/β+-thalassemia. Molecular testing confirmed heterozygous HbS and β+-thalassemia variants, homozygous 3.7-kilobase α-globin gene deletion, and a pathogenic glucose-6-phosphate dehydrogenase A‒ haplotype. Positive parvovirus B19 immunoglobulin M suggested an additional acute trigger. DISCUSSION: Routine hematologic parameters combined with HPLC screening can promptly identify complex hemoglobinopathies in clinically misleading presentations, enabling accurate diagnosis, appropriate management, and genetic counseling.
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