{'fraction_non_alphanumeric': 0.05035335689045936, 'fraction_numerical': 0.03445229681978799, 'mean_word_length': 4.901041666666667, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]

We report the case of an Italian-American girl with transfusion-dependent b-thalassemia (thal). Blood samples were obtained from the proband and the b-globin gene was screened for the most common b-thal mutations using the polymerase chain reaction (PCR) and the allele-specific amplification refractory mutation system (ARMS) as described by Old et al. (1). This test demonstrated that the proband is positive for the common IVS-I-110 (G!A) bþ-thal mutation (HBB g.202G!A). Direct nucleotide sequence analysis of the entire b-globin gene was used to identify the other mutant allele. The b-globin gene was amplified by PCR and sequenced on the ABI PRISM 310 Genetic Analyzer using internal primers and the BigDye TM Terminator Cycle Sequencing Kit (PE Applied BioSystems, Foster City, CA, USA). The 50 region of the b-globin gene was amplified using primers P1 (50-TCCTAAGCCAGTGCCAGAAG-30, positions 181 to 162 relative to mRNA Cap site) and P2 (50-TCATTCGTCTGTTTCCCATT-30, positions þ610 to þ591), and sequenced using internal primers P3 (50-AATAGACCAA