Unraveling thalassemia intermedia: Novel insights of a hemoglobin Jax [HBA2:c.44G>C] and deletional α

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Tác giả: Kanokwan Jaiping, Pisuttinee Khantarag, Patcharee Nochod, Sitthichai Panyasai, Surada Satthakarn

Ngôn ngữ: eng

Ký hiệu phân loại: 272.3 Persecutions of Waldenses and Albigenses

Thông tin xuất bản: Brazil : Hematology, transfusion and cell therapy , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 165317

OBJECTIVE: To elucidate the molecular basis, hematological features, and electrophoretic and chromatographic mobility behavior of an unstable α METHODS: A Thai patient with unexplained chronic anemia and her daughter were investigated. Hematological data were analyzed using a standard automated cell counter. Hemoglobin was analyzed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Mutational analysis was performed using appropriate polymerase chain reaction (PCR) techniques and direct sequencing. Additionally, α-globin haplotype analysis was conducted. Simple and rapid diagnostic methods were developed. RESULTS: Hemoglobin analysis in the patient revealed anomalous peaks separated from normal hemoglobin visible using the HPLC technique. These peaks were virtually absent in the daughter. DNA analysis identified a G to C mutation at codon 14 of the α CONCLUSIONS: Hemoglobin Jax, a pathological α-globin variant, is asymptomatic in simple heterozygotes and demonstrates more pronounced clinical effects when associated with deletional α-thalassemia. This knowledge can help develop strategies to prevent hemoglobinopathies in regions of high prevalence. Accurate identification requires DNA level analysis.
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