A combination of the -α3.7 and --MEDII alleles causing hemoglobin H disease in a Brazilian patient

The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report

“…To date, few studies about the utility of MLPA in routine clinical laboratory settings have been conducted. 9 , 10 MLPA could play an important role in the diagnosis because it allows to analyze in a single experiment a wide range of mutations affecting the α‐globin cluster gene, not detected by other techniques. In areas where both alpha‐ and beta‐thalassemia are present, MLPA is recommended as first tier screening to detect the wider range of mutations in the α‐globin cluster gene.…”

“…In our laboratory, we performed sanger sequencing for single nucleotide variants (SNVs) detection and MLPA technique for copy number variants (CNVs). To date, few studies about the utility of MLPA in routine clinical laboratory settings have been conducted 9,10 . MLPA could play an important role in the diagnosis because it allows to analyze in a single experiment a wide range of mutations affecting the α‐globin cluster gene, not detected by other techniques.…”