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Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion
The thalassemias is a group of hereditary disorders with impaired production of functional hemoglobin. In this report we described a rare case of compound heterozygous mutation of South-East Asia type hereditary persistence of fetal hemoglobin (SEA-HPFH) and β -thalassemia that allowed prenatal diagnosis to be performed in a subsequent pregnancy in the family.
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Cardiology Pediatrics Orthopedics