Hematology, transfusion and cell therapy · 2026
Genetic profiles and hematological characteristics of the α-Hb variant Hb Chumphae (HBA2:c.32T>A) in association with -SEA deletion α0-thalassemia.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Sihathip Patcharin, Srisuwan Wibhasiri, Sumphanapai Thitima, Satthakarn Surada, Ngokwongs Tabtim, Panyasai Sitthichai
Аннотация
OBJECTIVE: Hemoglobin (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.
METHODS: A 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.
RESULTS: Hematological 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 A2ABart's with abnormal peaks migrated faster than Hb A. DNA sequencing identified a missense mutation at codon 10 (GTC>GAC), causing a valine-to-aspartic acid substitution responsible for Hb Chumphae. Additionally, an α0-thalassemia (SEA deletion) was identified. Predictions and classifications of pathogenicity indicated a pathogenic effect. Polymerase chain reaction-restriction fragment length polymorphisms and allele-specific polymerase chain reaction assays successfully identified this mutation. An α-haplotypic [- - M - - - -] was possibly associated with Hb Chumphae.
CONCLUSIONS: The presence of Hb Chumphae in combination with α0-thalassemia as a compound heterozygote leads to severe anemia worse than hemoglobin H disease. The diagnosis of Hb Chumphae is challenging as high-performance liquid chromatography and capillary electrophoresis chromatograms mimic those of Hb Bart's. Accurate diagnosis requires globin genotyping.
METHODS: A 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.
RESULTS: Hematological 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 A2ABart's with abnormal peaks migrated faster than Hb A. DNA sequencing identified a missense mutation at codon 10 (GTC>GAC), causing a valine-to-aspartic acid substitution responsible for Hb Chumphae. Additionally, an α0-thalassemia (SEA deletion) was identified. Predictions and classifications of pathogenicity indicated a pathogenic effect. Polymerase chain reaction-restriction fragment length polymorphisms and allele-specific polymerase chain reaction assays successfully identified this mutation. An α-haplotypic [- - M - - - -] was possibly associated with Hb Chumphae.
CONCLUSIONS: The presence of Hb Chumphae in combination with α0-thalassemia as a compound heterozygote leads to severe anemia worse than hemoglobin H disease. The diagnosis of Hb Chumphae is challenging as high-performance liquid chromatography and capillary electrophoresis chromatograms mimic those of Hb Bart's. Accurate diagnosis requires globin genotyping.