ArticleHematology, transfusion and cell therapy2026
Genetic profiles and hematological characteristics of the α-Hb variant Hb Chumphae (HBA2:c.32T>A) in association with -
Article in Hematology, transfusion and cell therapy, 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
objectiveHemoglobin (Hb) variants and thalassemia interactions create complex syndromes, complicating diagnosis. This study aimed to characterize the molecular basis, genetic profile, and potential hematological features of a rare α-hemoglobin variant.
methodsA 44-year-old Thai male presented with unspecified chronic anemia with hepatosplenomegaly. Hematological data were obtained using a standard automated cell counter. Hemoglobin analysis was performed using high-performance liquid chromatography and capillary electrophoresis. Mutational and globin haplotypes were analyzed using polymerase chain reaction and sequencing. The pathogenicity of the mutant gene was predicted, and novel diagnostic methods based on allele-specific polymerase chain reaction were developed.
resultsHematological analysis revealed the following: red blood cell count, 1.74 × 10¹²/L; hemoglobin, 3.7 g/dL; hematocrit, 17%; mean corpuscular volume, 84.7 fL; mean corpuscular hemoglobin, 21.3 pg; mean corpuscular hemoglobin concentration, 25.1 g/dL; and red cell distribution width, 40.5%. Further, Hb A
conclusionsThe presence of Hb Chumphae in combination with α
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