BACKGROUND: This retrospective analysis study provides the molecular genetics of α-Thalassemia Mutations and identify the genotype of HbH disease in a group of patients at a Medical Center in Jordan.
METHODS: A total of 430 subjects were studied. HbH disease was confirmed by Electrophoresis, HPLC and the demonstration of HbH inclusion bodies by supra vital staining. DNA analysis was performed using polymerase chain reaction, restriction enzyme digestion, followed by agarose gel electrophoresis and by reverse- hybridization assay to diagnose and confirm cases suspected α-thalassemia.
RESULTS: Four hundred and thirty cases were found to be α-thalassemia trait and this was confirmed by Polymerase Chain Reaction, five different α- thalassemia determinants were observed. Thirty three cases were diagnosed as HbH disease.
CONCLUSION: This study helps in the prediction of the phenotype severity by identifying the genotype of HbH patients .The results of the study can be also applied for the genetic counseling to prospective patients with HbH disease, since in severe cases the need may be arise for prenatal diagnosis in population.
Key words: Polymerase chain reaction, Heamoglobin H, polyA1 mutation, Alpha Thalassemia, Jordan. Article Language: Turkish English
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