Title: The experimental study of hemoglobin H disease combined with β thalassemia
Abstract: Objective To Investigate the experimental diagnosis of hemoglobin H(HbH)combined with β thalassemia. Methods Components of hemoglobin were quantitively determined by electrophoresis, shape observation of red blood cells was an assistant parameter, and PCR amplification were used for gene analysis for a and β thalassemia; mutation points were determined by DNA sequencing. Results Hemoglobin electrophoresis determined that trace HbBart's and Hb Constant Spring(HbCS) existed in propositus,but no HbH band,HbA 2 increased,PCR amplification could only found out./- SEA gene and ⅣS-Ⅱ-654 point mutation double heterozygote, DNA sequencing showed that α CS point mutation of whole a globin gene,and T was changed into C, and propositus have three point mutation on α and β globin gene. And showed hemoglobin H disease. Conclusion HbH band(β 4) sometimes could not be detected in Hemoglobin H disease combined with β thalassemia. Precisely quantitive analysis of HbA 2 and shape observation of red blood cells could help to find out this disease. our study provided new data for heterogeneity of β thalassemia in our country.
Publication Year: 2004
Publication Date: 2004-01-01
Language: en
Type: article
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