Laboratory medicine · 2026
High-performance liquid chromatography screening reveals HbS/β+-thalassemia double heterozygosity as a pediatric muscular dystrophy mimic.
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López-Medina Carlos, Portell-Rigo Isabel M, González-Iribarren Virginia, González-Oller Carlos, Sánchez-Crespo Alicia, Molina-Arrebola Maria-Angustias
Аннотация
INTRODUCTION: Compound 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.
METHODS: An 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.
RESULTS: The 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.
METHODS: An 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.
RESULTS: The 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.