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Coinheritance of hemoglobin D-Punjab and β(0)-thalassemia 3.4 kb deletion in a Thai girl
Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β(0)-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β(0)-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613431/ https://www.ncbi.nlm.nih.gov/pubmed/28970692 http://dx.doi.org/10.4103/ajts.AJTS_117_16 |
Sumario: | Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β(0)-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β(0)-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52.5 fL). By capillary electrophoresis (CE), HbD-Punjab was found at a migration position of 180 s with the value of 81.9% while the level of HbA(2) was 7.3%. Based on the elevated HbA(2), the molecular analysis for detection of β(0)-thalassemia mutations was performed. The 490 bp amplified fragments from β(0)-thalassemia 3.4 kb deletion was observed. Thus, the coinheritance of HbD-Punjab with β(0)-thalassemia can be found in the Thai population. The HbA(2) measured on CE is a reliable parameter for differentiating the homozygote of HbD-Punjab and compound heterozygote of HbD-Punjab and β(0)-thalassemia. |
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